Phenotype

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  Subject Areas on Research

  • 3-Dimensional spatially organized PEG-based hydrogels for an aortic valve co-culture model. 
  • 3D phenotyping and quantitative trait locus mapping identify core regions of the rice genome controlling root architecture. 
  • A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience. 
  • A Lennert lymphoma with a helper-T-cell phenotype. 
  • A Multivariate Computational Method to Analyze High-Content RNAi Screening Data. 
  • A PAK-like protein kinase is required for maturation of young hyphae and septation in the filamentous ascomycete Ashbya gossypii. 
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • A biometric latent curve analysis of memory decline in older men of the NAS-NRC twin registry. 
  • A candidate taste receptor gene near a sweet taste locus. 
  • A chemical mutagenesis approach to identify virulence determinants in the obligate intracellular pathogen Chlamydia trachomatis. 
  • A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 
  • A common mutation site in the beta-galactosidase gene originates in Puerto Rico. 
  • A comparison of phenotype definitions for diabetes mellitus. 
  • A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 
  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 
  • A computational analysis of nasal vestibule morphologic variabilities on nasal function. 
  • A conserved Pbx-Wnt-p63-Irf6 regulatory module controls face morphogenesis by promoting epithelial apoptosis. 
  • A copper-regulated transporter required for copper acquisition, pigmentation, and specific stages of development in Drosophila melanogaster. 
  • A cyclin B homolog in S. cerevisiae: chronic activation of the Cdc28 protein kinase by cyclin prevents exit from mitosis. 
  • A deadly game of musical chairs: survival of cells transplanted for myocardial repair. 
  • A developmental mutation (npfL1) resulting in cell death in Physarum polycephalum. 
  • A family study of chronic post-traumatic stress disorder following rape trauma. 
  • A formalin-fixed paraffin-embedded (FFPE)-based prognostic signature to predict metastasis in clinically low risk stage I/II microsatellite stable colorectal cancer. 
  • A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer. 
  • A genetic approach for studying the physiology of the type 1A (AT1A) angiotensin receptor. 
  • A genetic risk score based on direct associations with coronary heart disease improves coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC), but not in the Rotterdam and Framingham Offspring, Studies. 
  • A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting. 
  • A genome-wide comparison of the functional properties of rare and common genetic variants in humans. 
  • A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. 
  • A genome-wide visual screen reveals a role for sphingolipids and ergosterol in cell surface delivery in yeast. 
  • A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. 
  • A genomic approach to colon cancer risk stratification yields biologic insights into therapeutic opportunities. 
  • A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. 
  • A guide to analysis of mouse energy metabolism. 
  • A heterozygous IDH1R132H/WT mutation induces genome-wide alterations in DNA methylation. 
  • A high throughput screen identifies Nefopam as targeting cell proliferation in β-catenin driven neoplastic and reactive fibroproliferative disorders. 
  • A high-density genome-wide association screen of sporadic ALS in US veterans. 
  • A human immunoglobulin gene reduces the incidence of lymphomas in c-Myc-bearing transgenic mice. 
  • A large-scale functional approach to uncover human genes and pathways in Drosophila. 
  • A murine model of hyperdopaminergic state displays altered respiratory control. 
  • A mutant form of p135tyk2, an interferon-alpha inducible tyrosine kinase, suppresses the transformed phenotype of Daudi cells. 
  • A mutation in Arabidopsis that leads to constitutive expression of systemic acquired resistance. 
  • A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 
  • A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. 
  • A novel multi-tissue RNA diagnostic of healthy ageing relates to cognitive health status. 
  • A pathway-based classification of human breast cancer. 
  • A patient with duplication (7)(p22.1pter) characterized by array-CGH. 
  • A pharmacogenetic investigation of intravenous furosemide in decompensated heart failure: a meta-analysis of three clinical trials. 
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 
  • A regulatory B cell subset with a unique CD1dhiCD5+ phenotype controls T cell-dependent inflammatory responses. 
  • A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder. 
  • A rheostat model for a rapid and reversible form of imprinting-dependent evolution. 
  • A role for Pin1 in mammalian germ cell development and spermatogenesis. 
  • A simple genetic incompatibility causes hybrid male sterility in mimulus. 
  • A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 
  • A small-molecule inhibitor of isoprenylcysteine carboxyl methyltransferase with antitumor activity in cancer cells. 
  • A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 
  • A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype. 
  • A surgical model of composite cystoplasty with cultured urothelial cells: a controlled study of gross outcome and urothelial phenotype. 
  • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 
  • A system for the direct co-culture of endothelium on smooth muscle cells. 
  • A telomerase-immortalized primary human prostate cancer clonal cell line with neoplastic phenotypes. 
  • A tenascin knockout with a phenotype. 
  • A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster. 
  • A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • A unique fungal two-component system regulates stress responses, drug sensitivity, sexual development, and virulence of Cryptococcus neoformans. 
  • APOL1 Genotype and Kidney Transplantation Outcomes From Deceased African American Donors. 
  • ATM: genome stability, neuronal development, and cancer cross paths. 
  • Aberrant behaviors of young boys with fragile X syndrome. 
  • Absolute values of dendritic cell subsets in bone marrow, cord blood, and peripheral blood enumerated by a novel method. 
  • Abundant raw material for cis-regulatory evolution in humans. 
  • Acceptance of high platelet reactivity as a risk factor: now, what do we do about it? 
  • Acetylation phenotype, platelet monoamine oxidase inhibition, and the effectiveness of phenelzine in depression. 
  • Acidic stress promotes a glioma stem cell phenotype. 
  • Acquisition of epithelial-mesenchymal transition phenotype of gemcitabine-resistant pancreatic cancer cells is linked with activation of the notch signaling pathway. 
  • Activation of Notch1 synergizes with multiple pathways in promoting castration-resistant prostate cancer. 
  • Activation of Rac1 promotes hedgehog-mediated acquisition of the myofibroblastic phenotype in rat and human hepatic stellate cells. 
  • Activation of the integrated stress response during T helper cell differentiation. 
  • Active immunization using dendritic cells mixed with tumor cells inhibits the growth of primary breast cancer. 
  • Activity level, apoptosis, and development of cachexia in Apc(Min/+) mice. 
  • Adaptive mechanisms that preserve cardiac function in mice without myoglobin. 
  • Addition of the BMP4 antagonist, noggin, disrupts avian inner ear development. 
  • Adenosine deaminase deficiency in adults. 
  • Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 
  • Adolescent alcohol exposure and persistence of adolescent-typical phenotypes into adulthood: a mini-review. 
  • Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers. 
  • Advanced imaging techniques for the study of plant growth and development. 
  • Age-severity relationships in families linked to FCD2 with retroillumination photography. 
  • Airway-specific inducible transgene expression using aerosolized doxycycline. 
  • Allele-specific gene expression in a wild nonhuman primate population. 
  • Allelic variations in gene expression. 
  • Alpha-1-antitrypsin globules in hepatocytes of elderly persons with liver disease. 
  • Alterations in HLA-DP and HLA-DQ antigen frequency in patients with dermatitis herpetiformis. 
  • Alterations in microRNA expression in stress-induced cellular senescence. 
  • Alterations in slow-twitch muscle phenotype in transgenic mice overexpressing the Ca2+ buffering protein parvalbumin. 
  • Altered Maturation Status and Possible Immune Exhaustion of CD8 T Lymphocytes in the Peripheral Blood of Patients Presenting With Acute Coronary Syndromes. 
  • Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. 
  • Altered expression of ganglioside phenotypes of human gliomas in vivo and in vitro. 
  • Altered expression of transforming growth factor-alpha in hereditary rat renal cell carcinoma. 
  • Altered expression of transforming growth factor-alpha: an early event in renal cell carcinoma development. 
  • Altered immune responses in apolipoprotein E-deficient mice. 
  • Altered lung gene expression in CCSP-null mice suggests immunoregulatory roles for Clara cells. 
  • Altered phenotypic gene expression of 10T1/2 mesenchymal cells in nonuniformly stretched PEGDA hydrogels. 
  • Altered pulmonary response to hyperoxia in Clara cell secretory protein deficient mice. 
  • Altered telomeres in tumors with ATRX and DAXX mutations. 
  • Alternative fuels for cancer cells. 
  • Alternative splicing in disease and therapy. 
  • Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. 
  • Alternative translation of osteopontin generates intracellular and secreted isoforms that mediate distinct biological activities in dendritic cells. 
  • Alveolar macrophages from overweight/obese subjects with asthma demonstrate a proinflammatory phenotype. 
  • Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936. 
  • Amelioration strategies fail to prevent tobacco smoke effects on neurodifferentiation: Nicotinic receptor blockade, antioxidants, methyl donors. 
  • American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. 
  • Amplification and high-level expression of heat shock protein 90 marks aggressive phenotypes of human epidermal growth factor receptor 2 negative breast cancer. 
  • Amplified B lymphocyte CD40 signaling drives regulatory B10 cell expansion in mice. 
  • An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 
  • An HLA class II region restriction fragment length polymorphism (RFLP) in patients with dermatitis herpetiformis: association with HLA-DP phenotype. 
  • An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character. 
  • An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. 
  • An analysis of the presence of Fc receptors on bone marrow lymphoblasts in acute lymphoblastic leukemia. A Pediatric Oncology Group study. 
  • An anxiety-like phenotype in mice selectively bred for aggression. 
  • An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. 
  • An essential role for Prox1 in the induction of the lymphatic endothelial cell phenotype. 
  • An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans. 
  • An integration of complementary strategies for gene-expression analysis to reveal novel therapeutic opportunities for breast cancer. 
  • An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. 
  • Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. 
  • Analysis of alcohol-related phenotypes in F2 progeny derived from FH/Wjd and ACI/N rat strains reveals independent measures and sex differences. 
  • Analysis of expression of CD2, CD3, and T cell antigen receptor molecules during early human fetal thymic development. 
  • Anchorage-independent cell growth signature identifies tumors with metastatic potential. 
  • Anemia in the elderly: clinical impact and practical diagnosis. 
  • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 
  • Angiopoietin-1 promotes atherosclerosis by increasing the proportion of circulating Gr1+ monocytes. 
  • Animal models of heart failure: a scientific statement from the American Heart Association. 
  • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 
  • Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. 
  • Anorexia nervosa and autism spectrum disorders: guided investigation of social cognitive endophenotypes. 
  • Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group. 
  • Antifungal drug resistance evoked via RNAi-dependent epimutations. 
  • Antithrombotic therapy in acute coronary syndrome: how far up the coagulation cascade will we go? 
  • Antitumor activity of temozolomide combined with irinotecan is partly independent of O6-methylguanine-DNA methyltransferase and mismatch repair phenotypes in xenograft models. 
  • ApoB-48 and apoB-100 differentially influence the expression of type-III hyperlipoproteinemia in APOE*2 mice. 
  • Apolipoprotein E-epsilon 2 and Alzheimer's disease: genotype influences pathologic phenotype. 
  • Apolipoprotein E-epsilon 4 frequency in geriatric depression. 
  • Applications of high-throughput RNA interference screens to problems in cell and developmental biology. 
  • Arabidopsis SNI1 and RAD51D regulate both gene transcription and DNA recombination during the defense response. 
  • Are mutations in the cystic fibrosis gene important in chronic pancreatitis? 
  • Are the Americas 'sick with racism' or is it a problem at the poles? A reply to Christina A. Sue 
  • Asian age-related macular degeneration phenotyping study: rationale, design and protocol of a prospective cohort study. 
  • Assays for monitoring cellular immune responses to active immunotherapy of cancer. 
  • Assessing electronic health record phenotypes against gold-standard diagnostic criteria for diabetes mellitus. 
  • Assessment of genetic relatedness of vaginal isolates of Candida albicans from different geographical origins. 
  • Association Between Use of the 21-Gene Recurrence Score Assay and Receipt of Chemotherapy Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005-2009. 
  • Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. 
  • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 
  • Association of methotrexate, rheumatoid arthritis and lymphoma: report of 2 cases and literature review. 
  • Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. 
  • Association test for X-linked QTL in family-based designs. 
  • Associations between HLA-DRB1*0102, HLA-B*5801, and hepatotoxicity during initiation of nevirapine-containing regimens in South Africa. 
  • Associations between the genotypes of Staphylococcus aureus bloodstream isolates and clinical characteristics and outcomes of bacteremic patients. 
  • Associations, populations, and the truth: recommendations for genetic association studies in Arthritis & Rheumatism. 
  • Assortative mating and differential fertility by phenotype and genotype across the 20th century. 
  • Atherogenic low density lipoprotein phenotype in long-term survivors of childhood acute lymphoblastic leukemia. 
  • Autism and the serotonin transporter: the long and short of it. 
  • Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. 
  • Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 
  • Axin2 regulates chondrocyte maturation and axial skeletal development. 
  • B10 cell regulation of health and disease. 
  • BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. 
  • BDE99 (2,2',4,4',5-pentabromodiphenyl ether) suppresses differentiation into neurotransmitter phenotypes in PC12 cells. 
  • BMP antagonism by Noggin is required in presumptive notochord cells for mammalian foregut morphogenesis. 
  • BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 
  • Balance of Irgm protein activities determines IFN-gamma-induced host defense. 
  • Bayesian learning from marginal data in bionetwork models. 
  • Bayesian probit regression model for the diagnosis of pulmonary fibrosis: proof-of-principle. 
  • Bcl-xL is an oncogenic driver in colorectal cancer. 
  • Behavior genetics and postgenomics. 
  • Behavioral comparisons in autistic individuals from multiplex and singleton families. 
  • Behavioral manipulation of the diabetic phenotype in ob/ob mice. 
  • Beta-arrestin 2 regulates zebrafish development through the hedgehog signaling pathway. 
  • Beyond Mendel: an evolving view of human genetic disease transmission. 
  • Biochemical Underpinnings of Immune Cell Metabolic Phenotypes. 
  • Biochemical correlates of temozolomide sensitivity in pediatric solid tumor xenograft models. 
  • Biogenetic mechanisms predisposing to complex phenotypes in parents may function differently in their children. 
  • Biogenetic mechanisms predisposing to complex phenotypes in parents may function differently in their children. 
  • Biological, clinical and population relevance of 95 loci for blood lipids. 
  • Biology of gliomas: potential clinical implications of glioma cellular heterogeneity. 
  • Biomarkers associated with clinical phenotypes of hand osteoarthritis in a large multigenerational family: the CARRIAGE family study. 
  • Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes. 
  • Biphenotypic sarcoma with characteristics of both a Ewing sarcoma and a desmoplastic small round cell tumor. 
  • Blood group antigens on complement receptor/regulatory proteins. 
  • Bmp4 is required for the generation of primordial germ cells in the mouse embryo. 
  • Boechera, a model system for ecological genomics. 
  • Bone histomorphometric and biomechanical abnormalities in mice homozygous for deletion of the dopamine transporter gene. 
  • Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. 
  • Branhamella catarrhalis activates human B lymphocytes following interactions with surface IgD and class I major histocompatibility complex antigens. 
  • Brief Report: HLA-DRB1, DQA1, and DQB1 in Juvenile-Onset Systemic Sclerosis. 
  • Brominated and organophosphate flame retardants target different neurodevelopmental stages, characterized with embryonic neural stem cells and neuronotypic PC12 cells. 
  • C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice. 
  • CD154 blockade, sirolimus, and donor-specific transfusion prevents renal allograft rejection in cynomolgus monkeys despite homeostatic T-cell activation. 
  • CD22 ligand binding regulates normal and malignant B lymphocyte survival in vivo. 
  • CD7+, CD4-, CD8- acute leukemia: a syndrome of malignant pluripotent lymphohematopoietic cells. 
  • CD8+ T-cell alveolitis in familial pulmonary alveolar microlithiasis. 
  • CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. 
  • CNS location of uterine-related neurons revealed by trans-synaptic tracing with pseudorabies virus and their relation to estrogen receptor-immunoreactive neurons. 
  • COMT gene locus: new functional variants. 
  • COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 
  • CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation. 
  • Caenorhabditis elegans beta-G spectrin is dispensable for establishment of epithelial polarity, but essential for muscular and neuronal function. 
  • Caenorhabditis elegans-based screen identifies Salmonella virulence factors required for conserved host-pathogen interactions. 
  • Calcium phosphate-bearing matrices induce osteogenic differentiation of stem cells through adenosine signaling. 
  • Cancer and longevity--is there a trade-off? A study of cooccurrence in Danish twin pairs born 1900-1918. 
  • Cancer as "rejuvenescence". 
  • Candidate counterparts of Sézary cells and adult T-cell lymphoma-leukaemia cells in normal peripheral blood: an ultrastructural study with the immunogold method and monoclonal antibodies. 
  • Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 
  • Cardiac function in mice overexpressing the beta-adrenergic receptor kinase or a beta ARK inhibitor. 
  • Cardiac micro-computed tomography for morphological and functional phenotyping of muscle LIM protein null mice. 
  • Cardiac repolarization: current knowledge, critical gaps, and new approaches to drug development and patient management. 
  • Cardiac-specific overexpression of angiotensin II AT2 receptor causes attenuated response to AT1 receptor-mediated pressor and chronotropic effects. 
  • Cardiovascular phenotype in HFpEF patients with or without diabetes: a RELAX trial ancillary study. 
  • Cardiovascular phenotyping of the mouse heart using a 4D radial acquisition and liposomal Gd-DTPA-BMA. 
  • Cell surface differentiation antigens of the malignant T cell in Sezary syndrome and mycosis fungoides. 
  • Cellular and molecular analysis of plasmodium development in Physarum. 
  • Cellular anti-GP120 cytolytic reactivities in HIV-1 seropositive individuals. 
  • Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. 
  • Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease. 
  • Changes in the molecular phenotype of nucleus pulposus cells with intervertebral disc aging. 
  • Changing Paradigms in the Treatment of Severe Asthma: The Role of Biologic Therapies. 
  • Characteristics of alloreactive rat T cell lines established from low and high rejecting orthotopic liver transplants. 
  • Characterization and Functional Phenotyping of Renal Immune Cells via Flow Cytometry. 
  • Characterization and immunotherapeutic potential of gammadelta T-cells in patients with glioblastoma. 
  • Characterization of a cDNA for the unexpressed form of cytochrome P-450g from the (-g) rat and differentiation of its mRNA from that of the (+g) phenotype using specific oligoprobes. 
  • Characterization of a gene trap insertion into a novel gene, cordon-bleu, expressed in axial structures of the gastrulating mouse embryo. 
  • Characterization of alcohol-induced filamentous growth in Saccharomyces cerevisiae. 
  • Characterization of cytotoxic cells generated from in vitro cultures of murine bone marrow cells. 
  • Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. 
  • Characterization of functional and phenotypic changes in anti-Gag vaccine-induced T cell responses and their role in protection after HIV-1 infection. 
  • Characterization of human thymic epithelial cell surface antigens: phenotypic similarity of thymic epithelial cells to epidermal keratinocytes. 
  • Characterization of the recalcitrant CYP1 phenotype found in Atlantic killifish (Fundulus heteroclitus) inhabiting a Superfund site on the Elizabeth River, VA. 
  • Characterizing phenotypes and outcomes of drug-associated liver injury using electronic medical record data 
  • Characterizing the phenotype of advanced pelvic organ prolapse. 
  • Chemotherapy characteristics are important predictors of primary prophylactic CSF administration in older patients with breast cancer. 
  • Children are not just little adults: recent advances in understanding of diffuse intrinsic pontine glioma biology. 
  • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 
  • Chondrocytic differentiation of human adipose-derived adult stem cells in elastin-like polypeptide. 
  • Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. 
  • Cigarette smoke modulates vascular smooth muscle phenotype: implications for carotid and cerebrovascular disease. 
  • Ciliopathies. 
  • Classification and genetic characterization of pattern-forming Bacilli. 
  • Classifying the evolutionary and ecological features of neoplasms. 
  • Clinical MRSA isolates from skin and soft tissue infections show increased in vitro production of phenol soluble modulins. 
  • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 
  • Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 
  • Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. 
  • Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. 
  • Clinical implications of chronic heart failure phenotypes defined by cluster analysis. 
  • Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. 
  • Clinical phenotypes associated with circulating tumor cell enumeration in metastatic castration-resistant prostate cancer. 
  • Clinical phenotypes of castration-resistant prostate cancer. 
  • Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods. 
  • Clinical trials in hospitalized heart failure patients: targeting interventions to optimal phenotypic subpopulations. 
  • Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 
  • Clinicopathologic and cytogenic features of CD34 (My 10)-positive acute nonlymphocytic leukemia. 
  • Clinicopathologic aspects of E rosette negative T cell acute lymphocytic leukemia: a Pediatric Oncology Group study. 
  • Cloned mice have an obese phenotype not transmitted to their offspring. 
  • Cloning and analysis of microRNAs encoded by the primate gamma-herpesvirus rhesus monkey rhadinovirus. 
  • Cloning of mitogen- and antigen-reactive B lymphocytes on filter paper disks: phenotypic and genotypic analysis of B cell colonies. 
  • Co-occurrence of ADHD and low IQ has genetic origins. 
  • Coat color genetics of Peromyscus: V. California blonde, a new recessive mutation in the deer mouse. 
  • Coated platelets and severe haemophilia A bleeding phenotype: Is there a connection? 
  • Colonial morphology of staphylococci on Memphis agar: phase variation of slime production, resistance to beta-lactam antibiotics, and virulence. 
  • Colour pattern modification by coldshock in Lepidoptera. 
  • Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. 
  • Common genetic variation and the control of HIV-1 in humans. 
  • Common human ANK2 variant confers in vivo arrhythmia phenotypes. 
  • Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. 
  • Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 
  • Community pharmacists' experience with pharmacogenetic testing. 
  • Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. 
  • Comparison of diagnostic and relapse flow cytometry phenotypes in childhood acute lymphoblastic leukemia: implications for residual disease detection: a report from the children's oncology group. 
  • Comparison of endothelial cell phenotypic markers of late-outgrowth endothelial progenitor cells isolated from patients with coronary artery disease and healthy volunteers. 
  • Comparison of use of phenotypic and genotypic characteristics for identification of species of the anamorph genus Candida and related teleomorph yeast species. 
  • Complex genetic interactions in a quantitative trait locus. 
  • Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. 
  • Complex trait divergence contributes to environmental niche differentiation in ecological speciation of Boechera stricta. 
  • Complex-trait analysis in plants. 
  • Computational modeling of cardiac fibroblasts and fibrosis. 
  • Computing a Synthetic Chronic Psychosocial Stress Measurement in Multiple Datasets and its Application in the Replication of G × E Interactions of the EBF1 Gene. 
  • Concentrations of highly sensitive cardiac troponin-I predict poor cardiovascular outcomes and adverse remodeling in chronic heart failure. 
  • Concurrent exposure to heat shock and H7 synergizes to trigger breast cancer cell apoptosis while sparing normal cells. 
  • Conditional stabilization of beta-catenin expands the pool of lung stem cells. 
  • Conflicting processes in the evolution of body size and development time. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Conotruncal myocardium arises from a secondary heart field. 
  • Conservation and diversification of SCARECROW in maize. 
  • Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. 
  • Constraint and developmental dissociation of phenotypic integration in a genetically accommodated trait. 
  • Context-dependent regulation of Wnt signaling through the primary cilium. 
  • Control of fibroblast senescence and activation of programmed cell death. 
  • Control of mesenchymal stem cell phenotype and differentiation depending on cell adhesion mechanism. 
  • Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycin. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. 
  • CpG island methylator phenotype is associated with response to adjuvant irinotecan-based therapy for stage III colon cancer. 
  • Cross-talk between Notch and Hedgehog regulates hepatic stellate cell fate in mice. 
  • Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. 
  • Cryptococcus neoformans hyperfilamentous strain is hypervirulent in a murine model of cryptococcal meningoencephalitis. 
  • Cryptococcus neoformans mating and virulence are regulated by the G-protein alpha subunit GPA1 and cAMP. 
  • Cryptococcus neoformans mitochondrial superoxide dismutase: an essential link between antioxidant function and high-temperature growth. 
  • Cutting Edge: c-Maf Is Required for Regulatory T Cells To Adopt RORγt+ and Follicular Phenotypes. 
  • Cyclic AMP modulates the functional plasticity of immature dendritic cells by inhibiting Src-like kinases through protein kinase A-mediated signaling. 
  • Cyclic AMP-dependent protein kinase catalytic subunits have divergent roles in virulence factor production in two varieties of the fungal pathogen Cryptococcus neoformans. 
  • Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. 
  • Cystine addiction of triple-negative breast cancer associated with EMT augmented death signaling. 
  • Cytocidal amino acid starvation of Saccharomyces cerevisiae and Candida albicans acetolactate synthase (ilv2{Delta}) mutants is influenced by the carbon source and rapamycin. 
  • Cytokinesis proteins Tum and Pav have a nuclear role in Wnt regulation. 
  • Cytotoxicity reactions of chimpanzee antisera with human lymphocyte donors phenotyped or genotyped for HL-A. 
  • D, weak D (Du), and partial D: the molecular story unfolds. 
  • DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 
  • DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. 
  • DNA methyltransferase levels and altered CpG methylation in the total genome and in the GSTP1 gene in human glioma cells transfected with sense and antisense DNA methyltransferase cDNA. 
  • DNA regulatory sequences of the rat tyrosine hydroxylase gene direct correct catecholaminergic cell-type specificity of a human growth hormone reporter in the CNS of transgenic mice causing a dwarf phenotype. 
  • DNA repair phenotype and cancer susceptibility--a mini review. 
  • DNase I sensitivity QTLs are a major determinant of human expression variation. 
  • DTNBP1 haplotype influences baseline assessment scores of schizophrenic in-patients. 
  • Danazol-induced augmentation of serum alpha 1-antitrypsin levels in individuals with marked deficiency of this antiprotease. 
  • Data and animal management software for large-scale phenotype screening. 
  • Data sharing in the undiagnosed diseases network. 
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 
  • De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). 
  • Deceased donor multidrug resistance protein 1 and caveolin 1 gene variants may influence allograft survival in kidney transplantation. 
  • Deciphering the molecular machinery of stem cells: a look at the neoblast gene expression profile. 
  • Decrease in high on-treatment platelet reactivity (HPR) prevalence on switching from clopidogrel to prasugrel: insights from the switching anti-platelet (SWAP) study. 
  • Dedifferentiated parosteal osteosarcoma with giant cell tumor component. 
  • Defective beta-adrenergic receptor signaling precedes the development of dilated cardiomyopathy in transgenic mice with calsequestrin overexpression. 
  • Defective signaling in a subpopulation of CD4(+) T cells in the absence of Ca(2+)/calmodulin-dependent protein kinase IV. 
  • Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. 
  • Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 
  • Deficiencies in mitochondrial dynamics sensitize Caenorhabditis elegans to arsenite and other mitochondrial toxicants by reducing mitochondrial adaptability. 
  • Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives. 
  • Defining the in vivo phenotype of artemisinin-resistant falciparum malaria: a modelling approach. 
  • Definition of a functional single nucleotide polymorphism in the cell migration inhibitory gene MIIP that affects the risk of breast cancer. 
  • Definitions of the phenotypic manifestations of sickle cell disease. 
  • Degradation of the tumor suppressor PML by Pin1 contributes to the cancer phenotype of breast cancer MDA-MB-231 cells. 
  • Deletion of the protein kinase A/protein kinase G target SMTNL1 promotes an exercise-adapted phenotype in vascular smooth muscle. 
  • Demonstration of phenotypic abnormalities of thymic epithelium in thymoma including two cases with abundant Langerhans cells. 
  • Dendritic cells cultured in anti-CD40 antibody-immobilized plates elicit a highly efficient peptide-specific T-cell response. 
  • Depressive-like behavior and high alcohol drinking co-occur in the FH/WJD rat but appear to be under independent genetic control. 
  • Derivation and characterization of a simian immunodeficiency virus SIVmac239 variant with tropism for CXCR4. 
  • Dermatitis herpetiformis in two American blacks: HLA type and clinical characteristics. 
  • Design and Implementation of the International Genetics and Translational Research in Transplantation Network. 
  • Detailed analysis of cytomegalovirus (CMV)-specific T cells expanded for adoptive immunotherapy of CMV infection following allogeneic stem cell transplantation for malignant disease. 
  • Detecting differential growth of microbial populations with Gaussian process regression. 
  • Detection of HIV-1 neutralizing antibodies in a human CD4⁺/CXCR4⁺/CCR5⁺ T-lymphoblastoid cell assay system. 
  • Determinants of poliovirus neurovirulence. 
  • Development and distribution of a human B cell subpopulation identified by the HB-4 monoclonal antibody. 
  • Development and evaluation of a genetic risk score for obesity. 
  • Development and evolution of adaptive polyphenisms. 
  • Development of a contemporary globally diverse HIV viral panel by the EQAPOL program. 
  • Development of an ovarian cancer screening decision model that incorporates disease heterogeneity: implications for potential mortality reduction. 
  • Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. 
  • Developmental causes of allometry: new models and implications for phenotypic plasticity and evolution. 
  • Developmental constraints in a wild primate. 
  • Developmental mechanisms of threshold evolution in a polyphenic beetle. 
  • Developmental mediation of genetic variation in response to the Fast Track prevention program. 
  • Developmental neurotoxicants target neurodifferentiation into the serotonin phenotype: Chlorpyrifos, diazinon, dieldrin and divalent nickel. 
  • Diabetic kidney disease in FVB/NJ Akita mice: temporal pattern of kidney injury and urinary nephrin excretion. 
  • Diagnosis and management of common bile duct stones in patients with sickle hemoglobinopathies. 
  • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. 
  • Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. 
  • Differences in Phenotypes and Liver Transplantation Outcomes by Age Group in Patients with Primary Sclerosing Cholangitis. 
  • Different presynaptic roles of synapsins at excitatory and inhibitory synapses. 
  • Differential Immune Microenvironments and Response to Immune Checkpoint Blockade among Molecular Subtypes of Murine Medulloblastoma. 
  • Differential collagen I gene expression in fetal fibroblasts. 
  • Differential expression of p63 isoforms in female reproductive organs. 
  • Differential expression of receptor tyrosine kinases and Shc in fetal and adult rat fibroblasts: toward defining scarless versus scarring fibroblast phenotypes. 
  • Differential gene expression patterns in HER2/neu-positive and -negative breast cancer cell lines and tissues. 
  • Differential osteopontin expression in phenotypically distinct subclones of murine breast cancer cells mediates metastatic behavior. 
  • Differential regulation of the dopamine D1, D2 and D3 receptor gene expression and changes in the phenotype of the striatal neurons in mice lacking the dopamine transporter. 
  • Differentiation characteristics of newly established medulloblastoma cell lines (D384 Med, D425 Med, and D458 Med) and their transplantable xenografts. 
  • Differentiation of human T lymphocytes: II. Phenotypic difference in skin and blood malignant T-cells in cutaneous T-cell lymphoma. 
  • Differentiation of mouse induced pluripotent stem cells (iPSCs) into nucleus pulposus-like cells in vitro. 
  • Diploids in the Cryptococcus neoformans serotype A population homozygous for the alpha mating type originate via unisexual mating. 
  • Direct allelic variation scanning of the yeast genome. 
  • Directionality of wingless protein transport influences epidermal patterning in the Drosophila embryo. 
  • Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. 
  • Dislocating medial triceps and ulnar neuropathy in three generations of one family. 
  • Disruption of Gpr45 causes reduced hypothalamic POMC expression and obesity. 
  • Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon. 
  • Disruption of a ciliary B9 protein complex causes Meckel syndrome. 
  • Disruption of a nonribosomal peptide synthetase in Aspergillus fumigatus eliminates gliotoxin production. 
  • Disruption of endosperm development is a major cause of hybrid seed inviability between Mimulus guttatus and Mimulus nudatus. 
  • Disruption of the Ang II type 1 receptor promotes longevity in mice. 
  • Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. 
  • Disruption of the mouse oestrogen receptor gene: resulting phenotypes and experimental findings. 
  • Dissecting the architecture of a quantitative trait locus in yeast. 
  • Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 
  • Dissociation of frontotemporal dementia-related deficits and neuroinflammation in progranulin haploinsufficient mice. 
  • Distinct gene expression phenotypes of cells lacking Rb and Rb family members. 
  • Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. 
  • Divergent phenotypes in Gaucher disease implicate the role of modifiers. 
  • Do convergent developmental mechanisms underlie convergent phenotypes? 
  • Does age impact the obese asthma phenotype? Longitudinal asthma control, airway function, and airflow perception among mild persistent asthmatics. 
  • Does evolutionary theory need a rethink? 
  • Does obesity produce a distinct asthma phenotype? 
  • Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 
  • Dominant-negative mutants of Grb2 induced reversal of the transformed phenotypes caused by the point mutation-activated rat HER-2/Neu. 
  • Donor specific bone marrow cells suppress lymphocyte reactivity to donor antigens and differentially modulate TH1 and TH2 cytokine gene expression in the responder cell population. 
  • Donor-specific bone marrow cells suppress lymphocyte reactivity to donor antigens and differentially modulate TH1 and TH2 cytokine gene expression in the responder cell population. 
  • Dopamine genes and ADHD. 
  • Dopamine-independent locomotor actions of amphetamines in a novel acute mouse model of Parkinson disease. 
  • Drosophila betaHeavy-spectrin is essential for development and contributes to specific cell fates in the eye. 
  • Drosophila crinkled, mutations of which disrupt morphogenesis and cause lethality, encodes fly myosin VIIA. 
  • Drosophila follicle cell amplicons as models for metazoan DNA replication: a cyclinE mutant exhibits increased replication fork elongation. 
  • Drosophila, genetic screens, and cardiac function. 
  • Dual islet transplantation modeling of the instant blood-mediated inflammatory reaction. 
  • Dual tropism of HIV-1 envelopes derived from renal tubular epithelial cells of patients with HIV-associated nephropathy. 
  • Early ethanol consumption predicts relapse-like behavior in adolescent male rats. 
  • Early negative affect predicts anxiety, not autism, in preschool boys with fragile X syndrome. 
  • Ectopic expression of DLK1 protein in skeletal muscle of padumnal heterozygotes causes the callipyge phenotype. 
  • Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. 
  • Effect of citrus juice and SLCO2B1 genotype on the pharmacokinetics of montelukast. 
  • Effect of highly active antiretroviral therapy and thymic transplantation on immunoreconstitution in HIV infection. 
  • Effect of modulating macrophage phenotype on peripheral nerve repair. 
  • Effects of 5'-fluoro-2-deoxyuridine on mitochondrial biology in Caenorhabditis elegans. 
  • Effects of a gut pathobiont in a gnotobiotic mouse model of childhood undernutrition. 
  • Effects of covariates: a summary of Group 5 contributions. 
  • Effects of neuronal PIK3C3/Vps34 deletion on autophagy and beyond. 
  • Elaboration of tubules with active hedgehog drives parenchymal fibrogenesis in gestational alloimmune liver disease. 
  • Electronic health records based phenotyping in next-generation clinical trials: a perspective from the NIH Health Care Systems Collaboratory. 
  • Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. 
  • Elevated IgE and atopy in patients treated for early-onset ADA-SCID. 
  • Elevated PTH induces endothelial-to-chondrogenic transition in aortic endothelial cells. 
  • Elevated expression of a subset of interferon inducible genes in primary bone marrow cells expressing p185 Bcr-Abl versus p210 Bcr-Abl by DNA microarray analysis. 
  • Elucidation of the calcineurin-Crz1 stress response transcriptional network in the human fungal pathogen Cryptococcus neoformans. 
  • Endoglin Mediates Vascular Maturation by Promoting Vascular Smooth Muscle Cell Migration and Spreading. 
  • Energy metabolism in uncoupling protein 3 gene knockout mice. 
  • Engraftment of human synovium into severe combined immune deficient mice. Migration of human peripheral blood T cells to engrafted human synovium and to mouse lymph nodes. 
  • Enhanced myocardial function in transgenic mice overexpressing the beta 2-adrenergic receptor. 
  • Enhanced myocardial relaxation in vivo in transgenic mice overexpressing the beta2-adrenergic receptor is associated with reduced phospholamban protein. 
  • Enrichment of endogenous fractalkine and anti-inflammatory cells via aptamer-functionalized hydrogels. 
  • Envelope V3 amino acid sequence predicts HIV-1 phenotype (co-receptor usage and tropism for macrophages). 
  • Epidemiologic and genetic aspects of spina bifida and other neural tube defects. 
  • Epigenome-wide association of PTSD from heterogeneous cohorts with a common multi-site analysis pipeline. 
  • Epistasis and balanced polymorphism influencing complex trait variation. 
  • Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. 
  • Epithelial-thymocyte interactions in human thymus. 
  • Erythrocyte Webb-type glycophorin C variant lacks N-glycosylation due to an asparagine to serine substitution. 
  • Erythrocyte invasion profiles are associated with a common invasion ligand polymorphism in Senegalese isolates of Plasmodium falciparum. 
  • Essential roles of S-nitrosothiols in vascular homeostasis and endotoxic shock. 
  • Estrogen receptor gene disruption: molecular characterization and experimental and clinical phenotypes. 
  • European Collaborative Project on Affective Disorders: interactions between genetic and psychosocial vulnerability factors. 
  • Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis. 
  • Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer. 
  • Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. 
  • Evidence for cellular heterogeneity in primary cultures of human orbital fibroblasts. 
  • Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 
  • Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) 
  • Evidence for multiple loci from a genome scan of autism kindreds. 
  • Evidence for phenotypic plasticity in aggressive triple-negative breast cancer: human biology is recapitulated by a novel model system. 
  • Evidence for susceptibility of intrathymic T-cell precursors and their progeny carrying T-cell antigen receptor phenotypes TCR alpha beta + and TCR gamma delta + to human immunodeficiency virus infection: a mechanism for CD4+ (T4) lymphocyte depletion. 
  • Evidence of a genetic link between endometriosis and ovarian cancer. 
  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. 
  • Evolution of a polyphenism by genetic accommodation. 
  • Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 
  • Evolutionary characters, phenotypes and ontologies: curating data from the systematic biology literature. 
  • Evolutionary genetics in wild primates: combining genetic approaches with field studies of natural populations. 
  • Evolutionary genetics of plant adaptation. 
  • Examination of Potential Modifiers of the Association of APOL1 Alleles with CKD Progression. 
  • Examination of type IV pilus expression and pilus-associated phenotypes in Kingella kingae clinical isolates. 
  • Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. 
  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 
  • Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 
  • Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 
  • Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. 
  • Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. 
  • Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. 
  • Expanding the phenotype of multifocal lymphangioendotheliomatosis with thrombocytopenia. 
  • Experimental models of human carcinogenesis. 
  • Explicating heterogeneity of complex traits has strong potential for improving GWAS efficiency. 
  • Exploration of a hypothesized independent association of a common 9p21.3 gene variant and ischemic stroke in patients with and without angiographic coronary artery disease. 
  • Exposure to a youthful circulaton rejuvenates bone repair through modulation of β-catenin. 
  • Expression and inducibility of aryl hydrocarbon receptor pathway genes in wild-caught killifish (Fundulus heteroclitus) with different contaminant-exposure histories. 
  • Expression of differentiation antigens by hybrids of human lymphoblastoid cells. 
  • Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. 
  • Expression of human complement factor H prevents age-related macular degeneration-like retina damage and kidney abnormalities in aged Cfh knockout mice. 
  • Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. 
  • Expression of multidrug resistance gene mdr1 mRNA in a subset of normal bone marrow cells. 
  • Expression of the noncatalytic domain of the NIMA kinase causes a G2 arrest in Aspergillus nidulans. 
  • Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. 
  • Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans. 
  • Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection. 
  • Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes. 
  • FAS Death Receptor: A Breast Cancer Subtype-Specific Radiation Response Biomarker and Potential Therapeutic Target. 
  • FGF12 is a candidate Brugada syndrome locus. 
  • FKF1 F-box protein mediates cyclic degradation of a repressor of CONSTANS in Arabidopsis. 
  • Facial pain with localized and widespread manifestations: separate pathways of vulnerability. 
  • Factor analysis in the Genetics of Asthma International Network family study identifies five major quantitative asthma phenotypes. 
  • Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R. 
  • Factors affecting individual foraging specialization and temporal diet stability across the range of a large "generalist" apex predator. 
  • Factors affecting reproducibility between genome-scale siRNA-based screens. 
  • Familial correlation of retinal vascular caliber in Singapore Chinese. 
  • Familial occurrence of pigment dispersion syndrome. 
  • Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 
  • Familial unilateral Brown syndrome. 
  • Families promote emotional and behavioural resilience to bullying: evidence of an environmental effect. 
  • Fasting hyperinsulinemia in human immunodeficiency virus-infected men: relationship to body composition, gonadal function, and protease inhibitor use. 
  • Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. 
  • Fatty acid synthesis is essential for survival of Cryptococcus neoformans and a potential fungicidal target. 
  • Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. 
  • Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP). 
  • Features for patients. See how they grow. 
  • Finding our way through phenotypes. 
  • Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fine structure mapping and phenotypic analysis of five temperature-sensitive mutations in the second largest subunit of vaccinia virus DNA-dependent RNA polymerase. 
  • First qualification study of serum biomarkers as indicators of total body burden of osteoarthritis. 
  • Five anthocyanin polymorphisms are associated with an R2R3-MYB cluster in Mimulus guttatus (Phrymaceae). 
  • Flightin is essential for thick filament assembly and sarcomere stability in Drosophila flight muscles. 
  • Flying at the head of the pack: Wnt biology in Drosophila. 
  • Four polymorphisms in cytochrome P450 1A1 (CYP1A1) gene and breast cancer risk: a meta-analysis. 
  • Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. 
  • Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28. 
  • Fragments of ATM which have dominant-negative or complementing activity. 
  • From genotype to phenotype: systems biology meets natural variation. 
  • From lab to field, new approaches to phenotyping root system architecture. 
  • Function of nuclear factor kappaB in pancreatic cancer metastasis. 
  • Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 
  • Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis. 
  • Functional evolution of an anthocyanin pathway enzyme during a flower color transition. 
  • Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. 
  • Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 
  • Functions of E2A-HEB heterodimers in T-cell development revealed by a dominant negative mutation of HEB. 
  • Fungal homoserine kinase (thr1Delta) mutants are attenuated in virulence and die rapidly upon threonine starvation and serum incubation. 
  • Fungal mating: Candida albicans flips a switch to get in the mood. 
  • Future directions in painful knee osteoarthritis: harnessing complexity in a heterogeneous population. 
  • Fuzzy set analyses of genetic determinants of health and disability status. 
  • G protein signaling and vein graft intimal hyperplasia: reduction of intimal hyperplasia in vein grafts by a Gbetagamma inhibitor suggests a major role of G protein signaling in lesion development. 
  • G protein-coupled receptor kinase 3 (GRK3) gene disruption leads to loss of odorant receptor desensitization. 
  • G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis. 
  • GATA3 risk alleles are associated with ancestral components in Hispanic children with ALL. 
  • GERD phenotypes from pH-impedance monitoring predict symptomatic outcomes on prospective evaluation. 
  • GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. 
  • Gene deletion screen for cardiomyopathy in adult Drosophila identifies a new notch ligand. 
  • Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dioxygenases control glucosinolate biosynthesis in Arabidopsis. 
  • Gene expression phenotypes of atherosclerosis. 
  • Gene expression phenotypic models that predict the activity of oncogenic pathways. 
  • Gene expression profiles of multiple breast cancer phenotypes and response to neoadjuvant chemotherapy. 
  • Gene expression profiles of tumor biology provide a novel approach to prognosis and may guide the selection of therapeutic targets in multiple myeloma. 
  • Gene expression profiling for prediction of clinical characteristics of breast cancer. 
  • Gene loss and parallel evolution contribute to species difference in flower color. 
  • Gene loss, adaptive evolution and the co-evolution of plumage coloration genes with opsins in birds. 
  • Gene targeting of a CFTR allele in HT29 human epithelial cells. 
  • Gene-environment interplay and psychopathology: multiple varieties but real effects. 
  • Generation and phenotypic analysis of mice lacking all urea transporters. 
  • Generation of phytate-free seeds in Arabidopsis through disruption of inositol polyphosphate kinases. 
  • Generation of ramoplanin-resistant Staphylococcus aureus. 
  • Genes and networks regulating root anatomy and architecture. 
  • Genes, behavior, and behavior genetics. 
  • Genetic Screen Reveals Link between the Maternal Effect Sterile Gene mes-1 and Pseudomonas aeruginosa-induced Neurodegeneration in Caenorhabditis elegans. 
  • Genetic analysis for common complex disease. 
  • Genetic analysis of sinonasal adenocarcinoma phenotypes: distinct alterations of histogenetic significance. 
  • Genetic and phenotypic changes accompanying the emergence of epizootic subtype IC Venezuelan equine encephalitis viruses from an enzootic subtype ID progenitor. 
  • Genetic approaches to molecular motors. 
  • Genetic approaches to studying norepinephrine function: knockout of the mouse norepinephrine transporter gene. 
  • Genetic architecture of human pain perception. 
  • Genetic architecture of reciprocal CNVs. 
  • Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype. 
  • Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. 
  • Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoring. 
  • Genetic basis of adaptive evolution of a polyphenism by genetic accommodation. 
  • Genetic contribution to rate of change in functional abilities among Danish twins aged 75 years or more. 
  • Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. 
  • Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. 
  • Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. 
  • Genetic divergence causes parallel evolution of flower color in Chilean Mimulus. 
  • Genetic elucidation of human hyperosmia to isovaleric acid. 
  • Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 
  • Genetic evidence reveals temporal change in hybridization patterns in a wild baboon population. 
  • Genetic generalized epilepsies. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. 
  • Genetic identity, biological phenotype, and evolutionary pathways of transmitted/founder viruses in acute and early HIV-1 infection. 
  • Genetic interactions among regulators of septin organization. 
  • Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. 
  • Genetic modifiers and oligogenic inheritance. 
  • Genetic modifiers of the Kv beta2-null phenotype in mice. 
  • Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. 
  • Genetic networks of liver metabolism revealed by integration of metabolic and transcriptional profiling. 
  • Genetic or pharmacological activation of the Drosophila PGC-1α ortholog spargel rescues the disease phenotypes of genetic models of Parkinson's disease. 
  • Genetic recombination of poliovirus in a cell-free system. 
  • Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 
  • Genetic susceptibility to lung cancer: the role of DNA damage and repair. 
  • Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study. 
  • Genetic variants of the LIN28B gene predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. 
  • Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk. 
  • Genetic variation in IL28B: impact on drug development for chronic hepatitis C infection. 
  • Genetically and epidemiologically related "non-syncytium-inducing" isolates of HIV-1 display heterogeneous growth patterns in macrophages. 
  • Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses. 
  • Genetics of pediatric epilepsy. 
  • Genetics of superior growth traits in trees are being mapped but will the faster-growing risk-takers make it in the wild? 
  • Genome structure of a Saccharomyces cerevisiae strain widely used in bioethanol production. 
  • Genome-Wide Assessment of Outer Membrane Vesicle Production in Escherichia coli. 
  • Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians. 
  • Genome-scale analysis of anti-metabolite directed strain engineering. 
  • Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. 
  • Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. 
  • Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. 
  • Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 
  • Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. 
  • Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. 
  • Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. 
  • Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. 
  • Genome-wide direct target analysis reveals a role for SHORT-ROOT in root vascular patterning through cytokinin homeostasis. 
  • Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. 
  • Genomewide ancestry and divergence patterns from low-coverage sequencing data reveal a complex history of admixture in wild baboons. 
  • Genomic approaches for understanding the genetics of complex disease. 
  • Genomic modeling of atherosclerosis in peripheral arterial disease and its variant phenotype in patients with diabetes. 
  • Genomics of human health and aging. 
  • Genomics of varicose veins and chronic venous insufficiency. 
  • Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 
  • Genotype-phenotype correlation in MYH9-related thrombocytopenia. 
  • Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease. 
  • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 
  • Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis. 
  • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Getting biological about the genetics of diabetes. 
  • GiA Roots: software for the high throughput analysis of plant root system architecture. 
  • Gipr is essential for adrenocortical steroidogenesis; however, corticosterone deficiency does not mediate the favorable metabolic phenotype of Gipr(-/-) mice. 
  • Glial and neuronal tau pathology in tauopathies: characterization of disease-specific phenotypes and tau pathology progression. 
  • Glutamatergic neuronal differentiation of mouse embryonic stem cells after transient expression of neurogenin 1 and treatment with BDNF and GDNF: in vitro and in vivo studies. 
  • Glutamine synthetase is a genetic determinant of cell type-specific glutamine independence in breast epithelia. 
  • Glutathione S-transferase P1 Ile105Val polymorphism and breast cancer risk: convergence and divergence of the two recent meta-analyses. 
  • Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 
  • Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 
  • Glycogen synthase kinase-3 is an endogenous inhibitor of Snail transcription: implications for the epithelial-mesenchymal transition. 
  • Glycosyl phosphatidylinositol-linked blood group antigens and paroxysmal nocturnal hemoglobinuria. 
  • Growth-Phase-Specific Modulation of Cell Morphology and Gene Expression by an Archaeal Histone Protein. 
  • GxE interactions between FOXO genotypes and drinking tea are significantly associated with prevention of cognitive decline in advanced age in China. 
  • HIV-1 Nef induces dedifferentiation of podocytes in vivo: a characteristic feature of HIVAN. 
  • HL-A antigenic loss in malignant transformation. 
  • HLA and Cogan's syndrome. 
  • HLA polymorphisms in African Americans with idiopathic inflammatory myopathy: allelic profiles distinguish patients with different clinical phenotypes and myositis autoantibodies. 
  • HLA-A and -B allele expression and ability to develop anti-Gag cross-clade responses in subtype C HIV-1-infected Ethiopians. 
  • HLA-B7 associated tuberculin hyporesponsiveness in BCG treated melanoma patients. 
  • HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. 
  • HNF-3 beta as a regulator of floor plate development. 
  • Hand grip strength: a phenotype suitable for identifying genetic variants affecting mid- and late-life physical functioning. 
  • Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 
  • Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. 
  • Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. 
  • Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. 
  • Hapten-specific T cell responses to 4-hydroxy-3-nitrophenyl acetyl. VIII. Suppressor cell pathways in cutaneous sensitivity responses. 
  • Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory. 
  • Health-related phenotypes and longevity in danish twins. 
  • Heart Failure Clinical Trials in East and Southeast Asia: Understanding the Importance and Defining the Next Steps. 
  • Heat-shock transcription factor (HSF)-1 pathway required for Caenorhabditis elegans immunity. 
  • Hedgehog signaling in cholangiocytes. 
  • Hel-N1/Hel-N2 proteins are bound to poly(A)+ mRNA in granular RNP structures and are implicated in neuronal differentiation. 
  • Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 
  • Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 
  • Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 
  • Hemoglobins of Boa constrictor amarali. 
  • Hepatic enrichment and activation of myeloid dendritic cells during chronic hepatitis C virus infection. 
  • Hepatic histological findings in suspected drug-induced liver injury: systematic evaluation and clinical associations. 
  • Hepatic β-arrestin 2 is essential for maintaining euglycemia. 
  • Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 
  • Heritability and reliability of automatically segmented human hippocampal formation subregions. 
  • Heritability of salt sensitivity in black Americans. 
  • Heterogeneity of Genotypic and phenotypic characteristics of fifteen permanent cell lines derived from human gliomas. 
  • Heterogeneity of antigen expression in advanced epithelial ovarian cancer. 
  • Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. 
  • Heterogeneous association between engrailed-2 and autism in the CPEA network. 
  • Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 
  • Heterogeneous vancomycin-intermediate susceptibility phenotype in bloodstream methicillin-resistant Staphylococcus aureus isolates from an international cohort of patients with infective endocarditis: prevalence, genotype, and clinical significance. 
  • Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. 
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 
  • High incidence of T-cell tumors in E2A-null mice and E2A/Id1 double-knockout mice. 
  • High prevalence of low HDL-c in the Philippines compared to the US: population differences in associations with diet and BMI. 
  • High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder. 
  • High-Resolution Mapping of Homologous Recombination Events in rad3 Hyper-Recombination Mutants in Yeast. 
  • High-throughput imaging and analysis of root system architecture in Brachypodium distachyon under differential nutrient availability. 
  • High-throughput isolation and mapping of C. elegans mutants susceptible to pathogen infection. 
  • High-throughput morphologic phenotyping of the mouse brain with magnetic resonance histology. 
  • High-throughput phenotyping of multicellular organisms: finding the link between genotype and phenotype. 
  • Highly complex neutralization determinants on a monophyletic lineage of newly transmitted subtype C HIV-1 Env clones from India. 
  • HipBA-promoter structures reveal the basis of heritable multidrug tolerance. 
  • Histiocytes in familial and infection-induced/idiopathic hemophagocytic syndromes may exhibit phenotypic differences. 
  • Histocompatibility testing and mixed lymphocyte culture responses in chimpanzee families. 
  • Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1. 
  • Hmo1p, a high mobility group 1/2 homolog, genetically and physically interacts with the yeast FKBP12 prolyl isomerase. 
  • Homoserine toxicity in Saccharomyces cerevisiae and Candida albicans homoserine kinase (thr1Delta) mutants. 
  • Host determinants of HIV-1 control in African Americans. 
  • Hosts of avian brood parasites have evolved egg signatures with elevated information content. 
  • How eco-evolutionary principles can guide tree breeding and tree biotechnology for enhanced productivity. 
  • How frailty models can be used for evaluating longevity limits: taking advantage of an interdisciplinary approach. 
  • How genes influence life span: the biodemography of human survival. 
  • How long can humans live? Lower bound for biological limit of human longevity calculated from Danish twin data using correlated frailty model. 
  • Hoxb5b acts downstream of retinoic acid signaling in the forelimb field to restrict heart field potential in zebrafish. 
  • Human T cells specifically activated against autologous malignant melanoma. 
  • Human T-B lymphoblast hybrids express HLA-DR specificities not expressed by either parent. 
  • Human arteries engineered in vitro. 
  • Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. 
  • Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation. 
  • Human erythrocyte acetylcholinesterase bears the Yta blood group antigen and is reduced or absent in the Yt(a-b-) phenotype. 
  • Human erythrocyte antigens. III. Characterization of a panel of murine monoclonal antibodies that react with human erythrocyte and erythroid precursor membranes. 
  • Human erythrocyte antigens. Regulation of expression of a novel erythrocyte surface antigen by the inhibitor Lutheran In(Lu) gene. 
  • Human histocompatibility antigen mutants immunoselected in vitro. Biochemical analysis of a mutant which synthesizes an altered HLA-A2 heavy chain. 
  • Human interleukin-2 and lymphoproliferative (T-helper cell) responses to soluble HLA class I antigens in vitro: I. Specificity for polymorphic domains. 
  • Human leukemia cell lines with comparable receptor binding characteristics but different phenotypic responses to phorbol diesters. 
  • Human melanoma-mediated inhibition of autologous CD4+ helper tumor-infiltrating lymphocyte growth in vitro. 
  • Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 
  • Human postnatal CD4- CD8- CD3- thymic T cell precursors differentiate in vitro into T cell receptor delta-bearing cells. 
  • Human red cell antigens. IV. The abnormal sialoglycoprotein of Gerbich-negative red cells. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Human spleen contains phenotypic subsets of macrophages and dendritic cells that occupy discrete microanatomic locations. 
  • Human thymic epithelial cells function as accessory cells for autologous mature thymocyte activation. 
  • Hybrid male sterility in Mimulus (Phrymaceae) is associated with a geographically restricted mitochondrial rearrangement. 
  • Hyper-Ia antigen expression on B cells from B6-lpr/lpr mice correlates with manifestations of the autoimmune state. 
  • Hyperreactive platelet phenotypes: relationship to altered serotonin transporter number, transport kinetics and intrinsic response to adrenergic co-stimulation. 
  • Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia. 
  • IL-13 in asthma and allergic disease: asthma phenotypes and targeted therapies. 
  • IL-4-STAT6 signal transduction-dependent induction of the clinical phase of Sjögren's syndrome-like disease of the nonobese diabetic mouse. 
  • INP51, a yeast inositol polyphosphate 5-phosphatase required for phosphatidylinositol 4,5-bisphosphate homeostasis and whose absence confers a cold-resistant phenotype. 
  • Identification and characterization of a highly conserved calcineurin binding protein, CBP1/calcipressin, in Cryptococcus neoformans. 
  • Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 
  • Identification of a mutant DNA polymerase delta in Saccharomyces cerevisiae with an antimutator phenotype for frameshift mutations. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 
  • Identification of cis-suppression of human disease mutations by comparative genomics. 
  • Identification of genetic defect of an epilepsy: strategies for therapeutic advances. 
  • Identification of quantitative trait loci and a candidate locus for freezing tolerance in controlled and outdoor environments in the overwintering crucifer Boechera stricta. 
  • Identification of the Kna/Knb polymorphism and a method for Knops genotyping. 
  • Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. 
  • Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii. 
  • Identification of yeast mutants with altered telomere structure. 
  • Identification, cloning, and expression of the Escherichia coli pyrazinamidase and nicotinamidase gene, pncA. 
  • Identifying molecular phenotype of nucleus pulposus cells in human intervertebral disc with aging and degeneration. 
  • Identifying therapeutic targets by combining transcriptional data with ordinal clinical measurements. 
  • Imaging and analysis platform for automatic phenotyping and trait ranking of plant root systems. 
  • Imaging genetics and the neurobiological basis of individual differences in vulnerability to addiction. 
  • Immigration and hybridization patterns of yellow and anubis baboons in and around Amboseli, Kenya. 
  • Immunoglobulin GM and KM allotypes in systemic lupus erythematosus. 
  • Immunologic and clinicopathologic features of common acute lymphoblastic leukemia antigen-positive childhood T-cell leukemia. A Pediatric Oncology Group Study. 
  • Immunologic targeting of FOXP3 in inflammatory breast cancer cells. 
  • Immunophenotypic characterization of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). 
  • Immunoregulatory T cells in cancer immunotherapy. 
  • Immunotherapy of patients with advanced cancer using tumor-infiltrating lymphocytes and recombinant interleukin-2: a pilot study. 
  • Impact of Age and Sex on Response to Asthma Therapy. 
  • Impact of CLAD Phenotype on Survival After Lung Retransplantation: A Multicenter Study. 
  • Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. 
  • Impact of forced vital capacity loss on survival after the onset of chronic lung allograft dysfunction. 
  • Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 
  • Impact of measurement error on testing genetic association with quantitative traits. 
  • Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls. 
  • Impact of the genetic background of transgenic mice upon the formation and timing of choroid plexus papillomas. 
  • Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density. 
  • Impaired vasodilation by red blood cells in sickle cell disease. 
  • Imprint regulatory elements as epigenetic biosensors of exposure in epidemiological studies. 
  • Improved inference of mutation rates: II. Generalization of the Luria-Delbrück distribution for realistic cell-cycle time distributions. 
  • Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. 
  • In situ and systemic cellular immunity associated with orthotopic rat liver allograft acceptance or rejection. 
  • In situ studies of the primary immune response to (4-hydroxy-3-nitrophenyl)acetyl. I. The architecture and dynamics of responding cell populations. 
  • In situ studies of the primary immune response to (4-hydroxy-3-nitrophenyl)acetyl. III. The kinetics of V region mutation and selection in germinal center B cells. 
  • In vitro resistance to thrombin-induced platelet microbicidal protein among clinical bacteremic isolates of Staphylococcus aureus correlates with an endovascular infectious source. 
  • In vivo interaction between NPR1 and transcription factor TGA2 leads to salicylic acid-mediated gene activation in Arabidopsis. 
  • In-vivo impaired T helper 1 cell development in submandibular lymph nodes due to IL-12 deficiency following antigen injection into the anterior chamber of the eye. 
  • Inactivation of Icmt inhibits transformation by oncogenic K-Ras and B-Raf. 
  • Inactivation of the tumour suppressor, PTEN, in smooth muscle promotes a pro-inflammatory phenotype and enhances neointima formation. 
  • Incomplete Y chromosomes promote magnification in male and female Drosophila. 
  • Increased expression of S100A6 is associated with decreased metastasis and inhibition of cell migration and anchorage independent growth in human osteosarcoma. 
  • Increased insulin sensitivity in mice lacking collectrin, a downstream target of HNF-1alpha. 
  • Increased rates of genomic deletions generated by mutations in the yeast gene encoding DNA polymerase delta or by decreases in the cellular levels of DNA polymerase delta. 
  • Increased replication of non-syncytium-inducing HIV type 1 isolates in monocyte-derived macrophages is linked to advanced disease in infected children. 
  • Increasing evidence for syndromic phenotypes associated with RPGR mutations. 
  • Independent contrasts succeed where ancestor reconstruction fails in a known bacteriophage phylogeny. 
  • Ineffective esophageal motility phenotypes following fundoplication in gastroesophageal reflux disease. 
  • Inefficient reprogramming of fibroblasts into cardiomyocytes using Gata4, Mef2c, and Tbx5. 
  • Inference of tumor evolution during chemotherapy by computational modeling and in situ analysis of genetic and phenotypic cellular diversity. 
  • Infiltrating cell phenotypes and patterns associated with hepatic allograft rejection or acceptance. 
  • Inflammatory Th1 and Th17 in the Intestine Are Each Driven by Functionally Specialized Dendritic Cells with Distinct Requirements for MyD88. 
  • Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. 
  • Inflammatory genes and psychological factors predict induced shoulder pain phenotype. 
  • Influence of genetic background on albuminuria and kidney injury in Ins2(+/C96Y) (Akita) mice. 
  • Inhibitors of histone deacetylases promote hematopoietic stem cell self-renewal. 
  • Initial Trends in the Use of the 21-Gene Recurrence Score Assay for Patients With Breast Cancer in the Medicare Population, 2005-2009. 
  • Initiation of replication at a mammalian chromosomal origin. 
  • Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer. 
  • Integrative Physiology: At the Crossroads of Nutrition, Microbiota, Animal Physiology, and Human Health. 
  • Integrin alpha 6 regulates glioblastoma stem cells. 
  • Inter-chromosomal level of genome organization and longevity-related phenotypes in humans. 
  • Interaction Between the FOXO1A-209 Genotype and Tea Drinking Is Significantly Associated with Reduced Mortality at Advanced Ages. 
  • Interactions between genotype and depressive symptoms on obesity. 
  • Interactions of TLC1 (which encodes the RNA subunit of telomerase), TEL1, and MEC1 in regulating telomere length in the yeast Saccharomyces cerevisiae. 
  • Interfrontal angle for characterization of trigonocephaly: part 1: development and validation of a tool for diagnosis of metopic synostosis. 
  • Intermittent pressure overload triggers hypertrophy-independent cardiac dysfunction and vascular rarefaction. 
  • Interplay between septin organization, cell cycle and cell shape in yeast. 
  • Intervertebral disc cells exhibit differences in gene expression in alginate and monolayer culture. 
  • Intestinal tumorigenesis is suppressed in mice lacking the metalloproteinase matrilysin. 
  • Intracardiac transplantation of a mixed population of bone marrow cells improves both regional systolic contractility and diastolic relaxation. 
  • Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 
  • Intrauterine position effects on sexually dimorphic asymmetries of Mongolian gerbils: testosterone, eye opening, and paw preference. 
  • Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels. 
  • Investigation of the basis of virulence in serotype A strains of Cryptococcus neoformans from apparently immunocompetent individuals. 
  • Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? 
  • Is there a 'regressive phenotype' of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA Study. 
  • Isolation and characterization of effector-loop mutants of CDC42 in yeast. 
  • Isolation and characterization of human casein kinase I epsilon (CKI), a novel member of the CKI gene family. 
  • Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. 
  • It infects me, it infects me not: phenotypic switching in the fungal pathogen Cryptococcus neoformans. 
  • JNK1 is required to preserve cardiac function in the early response to pressure overload. 
  • Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. 
  • Joint effect of multiple common SNPs predicts melanoma susceptibility. 
  • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 
  • Kalirin promotes neointimal hyperplasia by activating Rac in smooth muscle cells. 
  • Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes. 
  • Kidney and eye diseases: common risk factors, etiological mechanisms, and pathways. 
  • Knock-in mutation of the distal four tyrosines of linker for activation of T cells blocks murine T cell development. 
  • L-selectin can mediate leukocyte rolling in untreated mesenteric venules in vivo independent of E- or P-selectin. 
  • Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease. 
  • Lack of evidence for the dichotomy of TH1 and TH2 predominance in HIV-infected individuals. 
  • Lack of viral escape and defective in vivo activation of human immunodeficiency virus type 1-specific cytotoxic T lymphocytes in rapidly progressive infection. 
  • Lansoprazole Is Associated with Worsening Asthma Control in Children with the CYP2C19 Poor Metabolizer Phenotype. 
  • Laparoscopic cholecystectomy in young patients with sickle hemoglobinopathies. 
  • Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. 
  • Late-onset ornithine transcarbamylase deficiency in male patients. 
  • Leaf shape evolution has a similar genetic architecture in three edaphic specialists within the Mimulus guttatus species complex. 
  • Leaf-level gas-exchange uniformity and photosynthetic capacity among loblolly pine (Pinus taeda L.) genotypes of contrasting inherent genetic variation. 
  • Learning and evolution: a quantitative genetics approach. 
  • Learning phenotype densities conditional on many interacting predictors. 
  • Leptin promotes the myofibroblastic phenotype in hepatic stellate cells by activating the hedgehog pathway. 
  • Letter to the editor: Standardization of genetic association studies, pros and cons, reaffirmed. 
  • Leukemias and lymphomas of thymic differentiation. 
  • Leukocyte phenotypic changes in an in vitro model of ABO hemolytic transfusion reaction. 
  • Leveraging population information in family-based rare variant association analyses of quantitative traits. 
  • Lic4, a nuclear phosphoprotein that cooperates with calcineurin to regulate cation homeostasis in Saccharomyces cerevisiae. 
  • Life after the screen: making sense of many P-values. 
  • Ligament-derived matrix stimulates a ligamentous phenotype in human adipose-derived stem cells. 
  • Ligand-binding residues integrate affinity and efficacy in the NMDA receptor. 
  • Ligand-induced overexpression of a constitutively active beta2-adrenergic receptor: pharmacological creation of a phenotype in transgenic mice. 
  • Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. 
  • Linear population allocation by bistable switches in response to transient stimulation. 
  • Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Lipopolysaccharide bilayer structure: effect of chemotype, core mutations, divalent cations, and temperature. 
  • Liver injury from nonsteroidal anti-inflammatory drugs in the United States. 
  • Local knockdown of genes in the brain using small interfering RNA: a phenotypic comparison with knockout animals. 
  • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. 
  • Longitudinal assessment of immune response and viral characteristics in HIV-infected patients with prolonged CD4(+)/viral load discordance. 
  • Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. 
  • Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations. 
  • Loss of hPot1 function leads to telomere instability and a cut-like phenotype. 
  • Loss-of-function genetic tools for animal models: cross-species and cross-platform differences. 
  • Low levels of DNA polymerase alpha induce mitotic and meiotic instability in the ribosomal DNA gene cluster of Saccharomyces cerevisiae. 
  • Lutheran antigens, CD44-related antigens, and Lutheran regulatory genes. 
  • Lymphocyte subsets in healthy children during the first 5 years of life. 
  • Lyphocyte migration in L-selectin-deficient mice. Altered subset migration and aging of the immune system. 
  • MHC-restricted recognition of autologous melanoma by tumor-specific cytotoxic T cells. Evidence for restriction by a dominant HLA-A allele. 
  • MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 
  • Macrophage form, function, and phenotype in mycobacterial infection: lessons from tuberculosis and other diseases. 
  • Magnetic resonance histology for morphologic phenotyping. 
  • Major review: Molecular genetics of primary open-angle glaucoma. 
  • Major-gene resistance to the rust pathogen Coleosporium ipomoeae is common in natural populations of Ipomoea purpurea. 
  • Malignant transformation of the human endometrium is associated with overexpression of lactoferrin messenger RNA and protein. 
  • Mammalian genes induce partially reprogrammed pluripotent stem cells in non-mammalian vertebrate and invertebrate species. 
  • Management of Severe Asthma before Referral to the Severe Asthma Specialist. 
  • Manual asymmetry and handedness. 
  • Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study. 
  • Mapping of antibody specificities to VH gene families. 
  • Mapping phenotypic landscapes using DNA micro-arrays. 
  • Marital assortment and phenotypic convergence: longitudinal evidence. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Mechanism of apoptosis and determination of cellular fate in chromium(VI)-exposed populations of telomerase-immortalized human fibroblasts. 
  • Mechanisms of the proteinuria induced by Rho GTPases. 
  • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 
  • Medulloblastoma cell-substrate interaction in vitro. 
  • Mekk3 is essential for early embryonic cardiovascular development. 
  • Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer. 
  • Mesenchymal Stromal Cells Deficient in Autophagy Proteins Are Susceptible to Oxidative Injury and Mitochondrial Dysfunction. 
  • Mesenchymal Tumors Can Derive from Ng2/Cspg4-Expressing Pericytes with β-Catenin Modulating the Neoplastic Phenotype. 
  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. 
  • Metabolic Catastrophe in Mice Lacking Transferrin Receptor in Muscle. 
  • Metabolic dysfunction in lymphocytes promotes postoperative morbidity. 
  • Metabolic reprogramming of macrophages: glucose transporter 1 (GLUT1)-mediated glucose metabolism drives a proinflammatory phenotype. 
  • Metabolomic Signatures for Drug Response Phenotypes: Pharmacometabolomics Enables Precision Medicine. 
  • Metabolomic signatures of drug response phenotypes for ketamine and esketamine in subjects with refractory major depressive disorder: new mechanistic insights for rapid acting antidepressants. 
  • Metabolomics: a global biochemical approach to drug response and disease. 
  • Methylation subtypes and large-scale epigenetic alterations in gastric cancer. 
  • Mice lacking Bmp6 function. 
  • MicroRNAs and Cardiac Regeneration. 
  • Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 
  • Microevolution of Serial Clinical Isolates of Cryptococcus neoformans var. grubii and C. gattii. 
  • Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2. 
  • Minimizing the risk of reporting false positives in large-scale RNAi screens. 
  • Minor quantitative trait loci underlie floral traits associated with mating system divergence in Mimulus. 
  • Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics. 
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. 
  • Mobilization of dendritic cells from patients with breast cancer into peripheral blood stem cell leukapheresis samples using Flt-3-Ligand and G-CSF or GM-CSF. 
  • Modification of COMT-dependent pain sensitivity by psychological stress and sex. 
  • Modifier genes and heart failure. 
  • Modulation of alloreactivity in transplant recipients by phenotypic manipulation of donor endothelium. 
  • Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. 
  • Modulation of the BP response to diet by genes in the renin-angiotensin system and the adrenergic nervous system. 
  • Molecular Features Underlying Neurodegeneration Identified through In Vitro Modeling of Genetically Diverse Parkinson's Disease Patients. 
  • Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 
  • Molecular and functional properties of lung SP cells. 
  • Molecular and genetic approaches for the analysis of C. elegans neuronal development. 
  • Molecular and phenotypic characterization of a new mouse insertional mutation that causes a defect in the distal vertebrae of the spine. 
  • Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 
  • Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). 
  • Molecular basis of a novel adaptation to hypoxic-hypercapnia in a strictly fossorial mole. 
  • Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes. 
  • Molecular biology: microRNA is here to stay. 
  • Molecular defects underlying the Kell null phenotype. 
  • Molecular evidence for arterial repair in atherosclerosis. 
  • Molecular impact of selective NFKB1 and NFKB2 signaling on DLBCL phenotype. 
  • Molecular mapping of the Cromer blood group Cra and Tca epitopes of decay accelerating factor: toward the use of recombinant antigens in immunohematology. 
  • Molecular phenotype of airway side population cells. 
  • Molecular phenotype of simian virus 40 large T antigen-induced primitive neuroectodermal tumors in four different lines of transgenic mice. 
  • Molecular phenotypes of notochordal cells purified from immature nucleus pulposus. 
  • Monolayer absorption of human cytotoxic T cells: evidence for clonality. 
  • Monosynaptic premotor circuit tracing reveals neural substrates for oro-motor coordination. 
  • Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. 
  • Morphologic phenotyping with MR microscopy: the visible mouse. 
  • Most of the yeast genomic sequences are not essential for cell growth and division. 
  • Mouse models of diabetic nephropathy. 
  • Mouse small eye results from mutations in a paired-like homeobox-containing gene. 
  • MuRF2 regulates PPARγ1 activity to protect against diabetic cardiomyopathy and enhance weight gain induced by a high fat diet. 
  • Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. 
  • Multiple gene segments control the temperature sensitivity and attenuation phenotypes of ca B/Ann Arbor/1/66. 
  • Multiple genetic variants explain measurable variance in type 2 diabetes-related traits in Pakistanis. 
  • Multiple phenotypic changes in mice after knockout of the B3gnt5 gene, encoding Lc3 synthase--a key enzyme in lacto-neolacto ganglioside synthesis. 
  • Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. 
  • Multistage designs in the genomic era: providing balance in complex disease studies. 
  • Multistrain genetic comparisons reveal CCR5 as a receptor involved in airway hyperresponsiveness. 
  • Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. 
  • Murine regulatory T cells contain hyperproliferative and death-prone subsets with differential ICOS expression. 
  • Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. 
  • Mutation accumulation may be a minor force in shaping life history traits. 
  • Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 
  • Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 
  • Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutational alteration of the breakage/resealing subunit of bacteriophage T4 DNA topoisomerase confers resistance to antitumor agent m-AMSA. 
  • Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio. 
  • Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients. 
  • Mutational definition of functional domains within the Rev homolog encoded by human endogenous retrovirus K. 
  • Mutational inactivation of herpes simplex virus 1 microRNAs identifies viral mRNA targets and reveals phenotypic effects in culture. 
  • Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 
  • Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 
  • Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 
  • Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". 
  • Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • Mutations in Saccharomyces cerevisiae which confer resistance to several amino acid analogs. 
  • Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 
  • Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 
  • Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 
  • Mutations that Separate the Functions of the Proofreading Subunit of the Escherichia coli Replicase. 
  • Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase. 
  • Myeloid Krüppel-like factor 4 deficiency augments atherogenesis in ApoE-/- mice--brief report. 
  • Myo1c is an unconventional myosin required for zebrafish glomerular development. 
  • Myosin I contributes to the generation of resting cortical tension. 
  • Nager acrofacial dysostosis. 
  • Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. 
  • Natural killing target antigens as inducers of interferon: studies with an immunoselected, natural killing-resistant human T lymphoblastoid cell line. 
  • Natural variation for drought-response traits in the Mimulus guttatus species complex. 
  • Natural variation in CDC28 underlies morphological phenotypes in an environmental yeast isolate. 
  • Natural variation in MAM within and between populations of Arabidopsis lyrata determines glucosinolate phenotype. 
  • Natural variation, differentiation, and genetic trade-offs of ecophysiological traits in response to water limitation in Brachypodium distachyon and its descendent allotetraploid B. hybridum (Poaceae). 
  • Naturally occurring amino acid polymorphisms in human immunodeficiency virus type 1 (HIV-1) Gag p7(NC) and the C-cleavage site impact Gag-Pol processing by HIV-1 protease. 
  • Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. 
  • Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. 
  • Nephrocystin-3 is required for ciliary function in zebrafish embryos. 
  • Nerve activity-dependent modulation of calcineurin signaling in adult fast and slow skeletal muscle fibers. 
  • Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons. 
  • Nestling growth and song repertoire size in great reed warblers: evidence for song learning as an indicator mechanism in mate choice. 
  • Network-assisted genetic dissection of pathogenicity and drug resistance in the opportunistic human pathogenic fungus Cryptococcus neoformans. 
  • Neural crest and cardiovascular development: a 20-year perspective. 
  • Neuroanatomical phenotypes in the reeler mouse. 
  • Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: implications for a model of abnormal development of social brain circuitry in autism. 
  • Neurocognitive development of young children with sickle cell disease through three years of age. 
  • Neurogenic differentiation of murine and human adipose-derived stromal cells. 
  • Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684. 
  • New light on an age-old issue. 
  • New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality. 
  • New tools for studying integration and modularity. 
  • Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. 
  • Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 
  • NlpI-mediated modulation of outer membrane vesicle production through peptidoglycan dynamics in Escherichia coli. 
  • No association of 9p21 with arterial elasticity and retinal microvascular findings. 
  • No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. 
  • Nomenclature relating to restriction of modified DNA in Escherichia coli. 
  • Non invasive high resolution in vivo imaging of alpha-naphthylisothiocyanate (ANIT) induced hepatobiliary toxicity in STII medaka. 
  • Non invasive high resolution in vivo imaging of alpha-naphthylisothiocyanate (ANIT) induced hepatobiliary toxicity in STII medaka. 
  • Non-equivalent roles of Drosophila Frizzled and Dfrizzled2 in embryonic wingless signal transduction. 
  • Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits. 
  • Non-replicating mucosal and systemic vaccines: quantitative and qualitative differences in the Ag-specific CD8(+) T cell population in different tissues. 
  • Noncanonical role of transferrin receptor 1 is essential for intestinal homeostasis. 
  • Nonlinear developmental processes as sources of dominance. 
  • Nonmuscle myosin II is required for cell proliferation, cell sheet adhesion and wing hair morphology during wing morphogenesis. 
  • Normal human bone marrow precursors that express terminal deoxynucleotidyl transferase include T-cell precursors and possible lymphoid stem cells. 
  • Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation. 
  • Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association. 
  • Nox4 NADPH oxidase contributes to smooth muscle cell phenotypes associated with unstable atherosclerotic plaques. 
  • Nucleotide excision repair as a marker for susceptibility to tobacco-related cancers: a review of molecular epidemiological studies. 
  • Numb regulates somatic cell lineage commitment during early gonadogenesis in mice. 
  • OA phenotypes, rather than disease stage, drive structural progression--identification of structural progressors from 2 phase III randomized clinical studies with symptomatic knee OA. 
  • OCD-Like behaviors caused by a neuropotentiating transgene targeted to cortical and limbic D1+ neurons. 
  • OMIP-006: phenotypic subset analysis of human T regulatory cells via polychromatic flow cytometry. 
  • OX40+ Regulatory T Cells in Cutaneous Squamous Cell Carcinoma Suppress Effector T-Cell Responses and Associate with Metastatic Potential. 
  • Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. 
  • Ocular mucosal CD11b+ and CD103+ mouse dendritic cells under normal conditions and in allergic immune responses. 
  • Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 
  • Oligoclonal CD8 lymphocytes from persons with asymptomatic human immunodeficiency virus (HIV) type 1 infection inhibit HIV-1 replication. 
  • On the association between genes and complex traits. 
  • On the evolutionary costs of self-incompatibility: incomplete reproductive compensation due to pollen limitation. 
  • On the role of deoxyribonucleic acid polymerase in determining mutation rates. Characterization of the defect in the T4 deoxyribonucleic acid polymerase caused by the ts L88 mutation. 
  • One tissue, two fates: molecular genetic events that underlie testis versus ovary development. 
  • Ontogeny of the human thymus during fetal development. 
  • Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. 
  • Opposite phenotypes of cancer and aging arise from alternative regulation of common signaling pathways. 
  • Optimal selectin-mediated rolling of leukocytes during inflammation in vivo requires intercellular adhesion molecule-1 expression. 
  • Orbital fibroblast heterogeneity may determine the clinical presentation of thyroid-associated ophthalmopathy. 
  • Osteoarthritis--a case for personalized health care? 
  • Ovarian cancer tumor infiltrating T-regulatory (T(reg)) cells are associated with a metastatic phenotype. 
  • Overeating phenotypes in overweight and obese children. 
  • Overview of melanoma vaccines and promising approaches. 
  • Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major quantitative trait nucleotide. 
  • P-wave indices and atrial fibrillation: cross-cohort assessments from the Framingham Heart Study (FHS) and Atherosclerosis Risk in Communities (ARIC) study. 
  • P311 induces a TGF-beta1-independent, nonfibrogenic myofibroblast phenotype. 
  • PBmice: an integrated database system of piggyBac (PB) insertional mutations and their characterizations in mice. 
  • PPARβ/δ selectively regulates phenotypic features of age-related macular degeneration. 
  • PRDX6 attenuates oxidative stress- and TGFbeta-induced abnormalities of human trabecular meshwork cells. 
  • Pain drawings and sickle cell disease pain. 
  • Painful Temporomandibular Disorder: Decade of Discovery from OPPERA Studies. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors. 
  • Pathologic and molecular features correlate with long-term outcome after adjuvant therapy of resected primary GI stromal tumor: the ACOSOG Z9001 trial. 
  • Patient-Reported Outcomes and Fibromyalgia. 
  • Patterning cells in highly deformable microstructures: effect of plastic deformation of substrate on cellular phenotype and gene expression. 
  • Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 
  • Perceived age as clinically useful biomarker of ageing: cohort study. 
  • Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy. 
  • Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration. 
  • Peroxisome proliferator-activated receptor-gamma coactivator-1alpha overexpression increases lipid oxidation in myocytes from extremely obese individuals. 
  • Peroxynitrite triggers a phenotypic transformation in spinal cord astrocytes that induces motor neuron apoptosis. 
  • Persistent bacteremia due to methicillin-resistant Staphylococcus aureus infection is associated with agr dysfunction and low-level in vitro resistance to thrombin-induced platelet microbicidal protein. 
  • Persistent nuclear factor-kappa B activation in Ucp2-/- mice leads to enhanced nitric oxide and inflammatory cytokine production. 
  • Personalized targeted therapy for esophageal squamous cell carcinoma. 
  • Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. 
  • Pharmacotherapy of severe asthma. 
  • Phase 2 studies of sunitinib and AG013736 in patients with cytokine-refractory renal cell carcinoma. 
  • PhenDisco: phenotype discovery system for the database of genotypes and phenotypes. 
  • PhenX RISING: real world implementation and sharing of PhenX measures. 
  • Phenex: ontological annotation of phenotypic diversity. 
  • Phenomics and the interpretation of personal genomes. 
  • Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes. 
  • Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. 
  • Phenotype and patterns of inflammatory cell infiltration associated with rejection or acceptance of rat liver allografts. 
  • Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. 
  • Phenotype of Spirometric Impairment in an Aging Population. 
  • Phenotype of normal spirometry in an aging population. 
  • Phenotype standardization for statin-induced myotoxicity. 
  • Phenotype, Genotype, and Drug Resistance in Subtype C HIV-1 Infection. 
  • Phenotypic Characterization of MIP-CreERT1Lphi Mice With Transgene-Driven Islet Expression of Human Growth Hormone. 
  • Phenotypic analysis of 303 multiplex families with common epilepsies. 
  • Phenotypic analysis of four human medulloblastoma cell lines and transplantable xenografts. 
  • Phenotypic and cell cycle properties of human oligodendrocytes in vitro. 
  • Phenotypic and functional consequences of herpesvirus saimiri infection of human CD8+ cytotoxic T lymphocytes. 
  • Phenotypic and functional differences between human saphenous vein (HSVEC) and umbilical vein (HUVEC) endothelial cells. 
  • Phenotypic and genotypic analysis of a human medulloblastoma cell line and transplantable xenograft (D341 Med) demonstrating amplification of c-myc. 
  • Phenotypic and genotypic characterization of Mycobacterium africanum isolates from West Africa. 
  • Phenotypic characterization and ontogeny of components of the human thymic microenvironment. 
  • Phenotypic characterization and ontogeny of mesodermal-derived and endocrine epithelial components of the human thymic microenvironment. 
  • Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. 
  • Phenotypic characterization of cutaneous T-cell lymphoma. Use of monoclonal antibodies to compare with other malignant T cells. 
  • Phenotypic characterization of gamma interferon-induced human monocyte polykaryons. 
  • Phenotypic characterization of human bone marrow granulocyte-macrophage forming progenitor cells. 
  • Phenotypic characterization of human cytolytic T lymphocytes in mixed lymphocyte culture. 
  • Phenotypic characterization of skin-infiltrating T cells in cutaneous T-cell lymphoma: comparison with benign cutaneous T-cell infiltrates. 
  • Phenotypic characterization of transgenic Japanese medaka (Oryzias latipes) that express a red fluorescent protein in hepatocytes. 
  • Phenotypic consequences of lung-specific inducible expression of FGF-3. 
  • Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. 
  • Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 
  • Phenotypic heterogeneity in families with age-related macular degeneration. 
  • Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. 
  • Phenotypic mapping of metabolic profiles using self-organizing maps of high-dimensional mass spectrometry data. 
  • Phenotypic plasticity and adaptive evolution contribute to advancing flowering phenology in response to climate change. 
  • Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease. 
  • Phenotypic regulation of the sphingosine 1-phosphate receptor miles apart by G protein-coupled receptor kinase 2. 
  • Phenotypic signatures arising from unbalanced bacterial growth. 
  • Phenotypic similarities and differences between CALLA-positive acute lymphoblastic leukemia cells and normal marrow CALLA-positive B cell precursors. 
  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 
  • Phenotypic subpopulations of macrophages and dendritic cells in human spleen. 
  • Phenotypic variation in the response to the human immunodeficiency virus among derivatives of the CEM T and WIL-2 B cell lines. 
  • Phenotyping clinical disorders: lessons learned from pelvic organ prolapse. 
  • Phosphodiesterase 4 Inhibitors Attenuate the Asthma Phenotype Produced by β2-Adrenoceptor Agonists in Phenylethanolamine N-Methyltransferase-Knockout Mice. 
  • Phospholipid membrane composition affects EGF receptor and Notch signaling through effects on endocytosis during Drosophila development. 
  • Photocrosslinkable laminin-functionalized polyethylene glycol hydrogel for intervertebral disc regeneration. 
  • Phylogenetic analyses of eurotiomycetous endophytes reveal their close affinities to Chaetothyriales, Eurotiales, and a new order - Phaeomoniellales. 
  • Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. 
  • Pitchfork regulates primary cilia disassembly and left-right asymmetry. 
  • Pitfalls in newborn hemoglobinopathy screening: failure to detect beta(+)-thalassemia. 
  • Plasmodium falciparum field isolates from areas of repeated emergence of drug resistant malaria show no evidence of hypermutator phenotype. 
  • Plasticity of renal erythropoietin-producing cells governs fibrosis. 
  • Pleiotropic plasma membrane ATPase mutations of Saccharomyces cerevisiae. 
  • Pleiotropic quantitative trait loci contribute to population divergence in traits associated with life-history variation in Mimulus guttatus. 
  • Podocyte-specific knockout of cyclooxygenase 2 exacerbates diabetic kidney disease. 
  • Point mutations alter the mechanical stability of immunoglobulin modules. 
  • Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study. 
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 
  • Polymorphic mimicry in Papilio dardanus: mosaic dominance, big effects, and origins. 
  • Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease. 
  • Polymorphisms in NAT2 and GSTP1 are associated with survival in oral and oropharyngeal cancer. 
  • Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction. 
  • Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer. 
  • Population perspectives on functional genomic variation in yeast. 
  • Positive selection on MMP3 regulation has shaped heart disease risk. 
  • Posttranslational regulation of TCR Valpha allelic exclusion during T cell differentiation. 
  • Pre-clinical cognitive phenotypes for Alzheimer disease: a latent profile approach. 
  • Preconditioning Vaccine Sites for mRNA-Transfected Dendritic Cell Therapy and Antitumor Efficacy. 
  • Predicting the clinical status of human breast cancer by using gene expression profiles. 
  • Predicting the response to simultaneous selection: genetic architecture and physiological constraints. 
  • Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. 
  • Preneoplastic lesions induced by myc and src oncogenes in a heterotopic rat colon. 
  • Prevalent mutator genotype identified in fungal pathogen Candida glabrata promotes multi-drug resistance. 
  • Prevention of the polycystic ovarian phenotype and characterization of ovulatory capacity in the estrogen receptor-alpha knockout mouse. 
  • Primary immunodeficiency diseases due to defects in lymphocytes. 
  • Primary immunodeficiency mutation databases. 
  • Pro- and antiatherogenic effects of a dominant-negative P465L mutation of peroxisome proliferator-activated receptor-γ in apolipoprotein E-Null mice. 
  • Prolactin receptor signaling is essential for perinatal brown adipocyte function: a role for insulin-like growth factor-2. 
  • Proliferation of Double-Strand Break-Resistant Polyploid Cells Requires Drosophila FANCD2. 
  • Prostate cancer originating in basal cells progresses to adenocarcinoma propagated by luminal-like cells. 
  • Protein Quantitative Trait Loci Analysis Identifies Genetic Variation in the Innate Immune Regulator TOLLIP in Post-Lung Transplant Primary Graft Dysfunction Risk. 
  • Pulmonary function, bronchial reactivity, and epithelial permeability are response phenotypes to ozone and develop differentially in healthy humans. 
  • Pulmonary phenotype of CCSP/UG deficient mice: a consequence of CCSP deficiency or altered Clara cell function? 
  • Purification and partial characterization of a human hematopoietic precursor population. 
  • QTL Mapping in Three Rice Populations Uncovers Major Genomic Regions Associated with African Rice Gall Midge Resistance. 
  • QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. 
  • Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale. 
  • Quantitative determinants of aerobic glycolysis identify flux through the enzyme GAPDH as a limiting step. 
  • Quantitative mouse brain phenotyping based on single and multispectral MR protocols. 
  • Quantitative switch in integrin expression accompanies differentiation of F9 cells treated with retinoic acid. 
  • Quantitative trait locus mapping reveals regions of the maize genome controlling root system architecture. 
  • Quiescent phenotype of tumor-specific CD8+ T cells following immunization. 
  • RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 
  • RB regulates transcription of the p21/WAF1/CIP1 gene. 
  • RNA stability regulates differential expression of the metastasis protein, osteopontin, in hepatocellular cancer. 
  • Rac1 GTPase-deficient mouse lens exhibits defects in shape, suture formation, fiber cell migration and survival. 
  • RacGap50C negatively regulates wingless pathway activity during Drosophila embryonic development. 
  • Race is associated with differences in airway inflammation in patients with asthma. 
  • RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism. 
  • Ranbp2 haploinsufficiency mediates distinct cellular and biochemical phenotypes in brain and retinal dopaminergic and glia cells elicited by the Parkinsonian neurotoxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). 
  • Range size heritability and diversification patterns in the liverwort genus Radula. 
  • Rapid dissection of a complex phenotype through genomic-scale mapping of fitness altering genes. 
  • Rapid evolution of a polyphenic threshold. 
  • Rapid mapping of insertional mutations to probe cell wall regulation in Cryptococcus neoformans. 
  • Rare and low-frequency coding variants alter human adult height. 
  • Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. 
  • Rationale and design of the Duke Electrophysiology Genetic and Genomic Studies (EPGEN) biorepository. 
  • Recent advances in immunohematology. 
  • Recent advances in juvenile idiopathic inflammatory myopathies. 
  • Receptor-specific in vivo desensitization by the G protein-coupled receptor kinase-5 in transgenic mice. 
  • Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. 
  • Recombinant human endostatin could eliminate the pro-angiogenesis priority of SP cells sorted from non-small cell lung cancer cells. 
  • Reconstructing genome evolution in historic samples of the Irish potato famine pathogen. 
  • Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis. 
  • Redefining heart failure: the utility of genomics. 
  • Redox properties of human hemoglobin in complex with fractionated dimeric and polymeric human haptoglobin. 
  • Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors for angiotensin II. 
  • Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast. 
  • Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants. 
  • Regarding "The Munich vulnerability study on affective disorders: premorbid polysomnographic profile of affected high-risk probands". 
  • Regulation of CDK7-carboxyl-terminal domain kinase activity by the tumor suppressor p16(INK4A) contributes to cell cycle regulation. 
  • Regulation of genome stability by TEL1 and MEC1, yeast homologs of the mammalian ATM and ATR genes. 
  • Regulation of hetDNA Length during Mitotic Double-Strand Break Repair in Yeast. 
  • Regulation of the immune response. II. Concomitant idiotope-specific enhancement and suppression can result in a phenotypically normal response. 
  • Regulators of pseudohyphal differentiation in Saccharomyces cerevisiae identified through multicopy suppressor analysis in ammonium permease mutant strains. 
  • Rejection of kidney allografts by MHC class I-deficient mice. 
  • Relating Retinal Morphology and Function in Aging and Early to Intermediate Age-related Macular Degeneration Subjects. 
  • Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 
  • Reliability of mutagen sensitivity assay: an inter-laboratory comparison. 
  • Reliable genotypic tropism tests for the major HIV-1 subtypes. 
  • Renal allograft-infiltrating lymphocytes. A prospective analysis of in vitro growth characteristics and clinical relevance. 
  • Repeat polymorphisms within gene regions: phenotypic and evolutionary implications. 
  • Repeated phenotypic changes highlight molecular targets of convergent evolution. 
  • Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997. 
  • Repression of the human papillomavirus E6 gene initiates p53-dependent, telomerase-independent senescence and apoptosis in HeLa cervical carcinoma cells. 
  • Resident cellular components of the human lung: current knowledge and goals for research on cell phenotyping and function. 
  • Resource base influences genome-wide DNA methylation levels in wild baboons (Papio cynocephalus). 
  • Response of variant hereditary angioedema phenotypes to danazol therapy. Genetic implications. 
  • Restricted isotype, distinct variable gene usage, and high rate of gp120 specificity of HIV-1 envelope-specific B cells in colostrum compared with those in blood of HIV-1-infected, lactating African women. 
  • Retinal neovascular markers in retinopathy of prematurity: aetiological implications. 
  • Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. 
  • Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 
  • Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. 
  • Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line. 
  • Revisiting the association between reading achievement and antisocial behavior: new evidence of an environmental explanation from a twin study. 
  • Rheumatoid arthritis and sterile corneal ulceration. Analysis of tissue immune effector cells and ocular epithelial antigens using monoclonal antibodies. 
  • Ring chromosome 17: phenotype variation by deletion size. 
  • Robust analysis of secondary phenotypes in case-control genetic association studies. 
  • Role of platelet surface PF4 antigenic complexes in heparin-induced thrombocytopenia pathogenesis: diagnostic and therapeutic implications. 
  • Roles of wingless in patterning the larval epidermis of Drosophila. 
  • SCALEs: multiscale analysis of library enrichment. 
  • SCAR, a WASP-related protein, isolated as a suppressor of receptor defects in late Dictyostelium development. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • SETD2 histone modifier loss in aggressive GI stromal tumours. 
  • SH1 domain autophosphorylation of P210 BCR/ABL is required for transformation but not growth factor independence. 
  • SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 
  • SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. 
  • Saccharomyces cerevisiae virulence phenotype as determined with CD-1 mice is associated with the ability to grow at 42 degrees C and form pseudohyphae. 
  • Screening for pain phenotypes: analysis of three congenic mouse strains on a battery of nine nociceptive assays. 
  • Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 
  • Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. 
  • Seed after-ripening and dormancy determine adult life history independently of germination timing. 
  • Segment polarity gene interactions modulate epidermal patterning in Drosophila embryos. 
  • Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. 
  • Seizure disorders in mutant mice: relevance to human epilepsies. 
  • Selection and analysis of spontaneous reciprocal mitotic cross-overs in Saccharomyces cerevisiae. 
  • Selection for human immunodeficiency virus type 1 recombinants in a patient with rapid progression to AIDS. 
  • Selective regulation of expression of protein kinase C (PKC) isoenzymes in multidrug-resistant MCF-7 cells. Functional significance of enhanced expression of PKC alpha. 
  • Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs. 
  • Senescent human fibroblasts resist programmed cell death, and failure to suppress bcl2 is involved. 
  • Senescent phenotypes and telomere lengths of peripheral blood T-cells mobilized by acute exercise in humans. 
  • Sequence requirements for Rev multimerization in vivo. 
  • Sequential delivery of maturation stimuli increases human dendritic cell IL-12 production and enhances tumor antigen-specific immunogenicity. 
  • Serological and biochemical characterization of monoclonal antibodies against red cell markers related to expression of Lutheran blood group antigens. 
  • Serotonin transporter gene moderates childhood maltreatment's effects on persistent but not single-episode depression: replications and implications for resolving inconsistent results. 
  • Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q. 
  • Severe combined immunodeficiency (SCID) with natural killer (NK) cell predominance. 
  • Severe combined immunodeficiency with natural killer-cell predominance: abrogation of graft-versus-host disease and immunologic reconstitution with HLA-identical bone marrow cells. 
  • Severe lung fibrosis requires an invasive fibroblast phenotype regulated by hyaluronan and CD44. 
  • Sib-pair linkage analysis in late onset Alzheimer's disease. 
  • Sibling phenotype concordance in classical infantile Pompe disease. 
  • Similarities and differences in early retinal phenotypes in hypertension and diabetes. 
  • Single epitope mucosal vaccine delivered via immuno-stimulating complexes induces low level of immunity against simian-HIV. 
  • Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials. 
  • Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. 
  • Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities. 
  • Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. 
  • Smoking in infertile women with polycystic ovary syndrome: baseline validation of self-report and effects on phenotype. 
  • Smoothened signaling in vertebrates is facilitated by a G protein-coupled receptor kinase. 
  • Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA. 
  • Soluble macrophage biomarkers indicate inflammatory phenotypes in patients with knee osteoarthritis. 
  • Sonic hedgehog from pharyngeal arch 1 epithelium is necessary for early mandibular arch cell survival and later cartilage condensation differentiation. 
  • Spatial and temporal regulation of biosynthesis of the plant immune signal salicylic acid. 
  • Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 
  • Split tolerance in peripheral B cell subsets in mice expressing a low level of Igkappa-reactive ligand. 
  • Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal. 
  • Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 
  • Stall encodes an ADAMTS metalloprotease and interacts genetically with Delta in Drosophila ovarian follicle formation. 
  • Stathmin-deficient mice develop an age-dependent axonopathy of the central and peripheral nervous systems. 
  • Statistical considerations for analysis of microarray experiments. 
  • Statistical genetics of an annual plant, Impatiens capensis. I. Genetic basis of quantitative variation. 
  • Statistical genetics of an annual plant, Impatiens capensis. II. Natural selection. 
  • Strategies for dissecting genetic-environmental interactions in neurodegenerative disorders. 
  • Strategy for investigating interactions between measured genes and measured environments. 
  • Strength and anthropometric measures in identical and fraternal twins: no evidence of masculinization of females with male co-twins. 
  • Stromal cell independent B cell development in vitro: generation and recovery of autoreactive clones. 
  • Structure of the Z Ring-associated Protein, ZapD, Bound to the C-terminal Domain of the Tubulin-like Protein, FtsZ, Suggests Mechanism of Z Ring Stabilization through FtsZ Cross-linking. 
  • Subacute limb ischemia induces skeletal muscle injury in genetically susceptible mice independent of vascular density. 
  • Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 
  • Suppression of trkB expression by antisense oligonucleotides alters a neuronal phenotype in the rod pathway of the developing rat retina. 
  • Surfactant protein D attenuates sub-epithelial fibrosis in allergic airways disease through TGF-β. 
  • Survey criteria for fibromyalgia independently predict increased postoperative opioid consumption after lower-extremity joint arthroplasty: a prospective, observational cohort study. 
  • Synergism and Antagonism of Proximate Mechanisms Enable and Constrain the Response to Simultaneous Selection on Body Size and Development Time: An Empirical Test Using Experimental Evolution. 
  • Synergistic derepression of gibberellin signaling by removing RGA and GAI function in Arabidopsis thaliana. 
  • Synthetic lethal analysis of Caenorhabditis elegans posterior embryonic patterning genes identifies conserved genetic interactions. 
  • Systematic Molecular Phenotyping: A Path Toward Precision Emergency Medicine? 
  • Systems Biology of Phenotypic Robustness and Plasticity. 
  • T cells and T-cell subsets in a large population of patients with primary immunodeficiency. 
  • T helper 2-dominant antilymphoma immune response is associated with fatal outcome. 
  • T helper cells in murine germinal centers are antigen-specific emigrants that downregulate Thy-1. 
  • TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 
  • TOMM40 and APOE: Requirements for replication studies of association with age of disease onset and enrichment of a clinical trial. 
  • Taking a developmental perspective on systems biology. 
  • Taking cardiovascular genetic association studies to the next level. 
  • Target recognition by the archenteron during sea urchin gastrulation. 
  • Targeted ANP32E mutant mice do not demonstrate obvious movement defects. 
  • Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction. 
  • Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. 
  • Targeted disruption of the estrogen receptor-alpha gene in female mice: characterization of ovarian responses and phenotype in the adult. 
  • Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 
  • Targeting N-cadherin enhances antitumor activity of cytotoxic therapies in melanoma treatment. 
  • Tat-functionalized near-infrared emissive polymersomes for dendritic cell labeling. 
  • Tau Protein Mediates APP Intracellular Domain (AICD)-Induced Alzheimer's-Like Pathological Features in Mice. 
  • Tau is essential to beta -amyloid-induced neurotoxicity. 
  • Telomerase, cell immortality, and cancer. 
  • Tenascin-C knockout mouse has no detectable tenascin-C protein. 
  • Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls. 
  • Testing hypotheses for the functions of APC family proteins using null and truncation alleles in Drosophila. 
  • The 100-genomes strains, an S. cerevisiae resource that illuminates its natural phenotypic and genotypic variation and emergence as an opportunistic pathogen. 
  • The 5' non-coding region of the BCR/ABL oncogene augments its ability to stimulate the growth of immature lymphoid cells. 
  • The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. 
  • The Actin-Binding Protein Drebrin Inhibits Neointimal Hyperplasia. 
  • The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth. 
  • The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. 
  • The C2 domain protein Cts1 functions in the calcineurin signaling circuit during high-temperature stress responses in Cryptococcus neoformans. 
  • The Chado Natural Diversity module: a new generic database schema for large-scale phenotyping and genotyping data. 
  • The Cryptococcus neoformans catalase gene family and its role in antioxidant defense. 
  • The Danish Twin Registry in the new millennium. 
  • The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal. 
  • The ErbB2ΔEx16 splice variant is a major oncogenic driver in breast cancer that promotes a pro-metastatic tumor microenvironment. 
  • The Ess1 prolyl isomerase is linked to chromatin remodeling complexes and the general transcription machinery. 
  • The Fawn-Hooded (FH/Wjd) rat: a genetic animal model of comorbid depression and alcoholism. 
  • The Genetic Basis of Hydrocephalus. 
  • The Genetics of Generalized Osteoarthritis (GOGO) study: study design and evaluation of osteoarthritis phenotypes. 
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. 
  • The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 
  • The MAPP research network: design, patient characterization and operations. 
  • The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. 
  • The PICALM protein plays a key role in iron homeostasis and cell proliferation. 
  • The Role of Pancreatic Preproglucagon in Glucose Homeostasis in Mice. 
  • The Systemic Juvenile Idiopathic Arthritis Cohort of the Childhood Arthritis and Rheumatology Research Alliance Registry: 2010-2013. 
  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. 
  • The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample. 
  • The adaptive radiation of lichen-forming Teloschistaceae is associated with sunscreening pigments and a bark-to-rock substrate shift. 
  • The alternative oxidase of plant mitochondria is involved in the acclimation of shoot growth at low temperature. A study of Arabidopsis AOX1a transgenic plants. 
  • The biology of malignant gliomas--a comprehensive survey. 
  • The broader autism phenotype in simplex and multiplex families. 
  • The carboxypeptidase E knockout mouse exhibits endocrinological and behavioral deficits. 
  • The case for strategic international alliances to harness nutritional genomics for public and personal health. 
  • The ciliopathies: a transitional model into systems biology of human genetic disease. 
  • The ciliopathies: an emerging class of human genetic disorders. 
  • The claret locus in Drosophila encodes products required for eyecolor and for meiotic chromosome segregation. 
  • The coenrichment of stem cells, prothymocytes, and stromal elements with ecotropic retrovirus-producing cells from the bone marrow of leukemia-prone AKR mice. 
  • The combined functions of proapoptotic Bcl-2 family members bak and bax are essential for normal development of multiple tissues. 
  • The current clinical value of the DCIS Score. 
  • The development and evolution of exaggerated morphologies in insects. 
  • The differential diagnosis between pleural sarcomatoid mesothelioma and spindle cell/pleomorphic (sarcomatoid) carcinomas of the lung: evidence-based guidelines from the International Mesothelioma Panel and the MESOPATH National Reference Center. 
  • The dopamine D4 receptor and the hyperactivity phenotype: a developmental-epidemiological study. 
  • The dopamine transporter: a crucial component regulating dopamine transmission. 
  • The effect of CYP2C19 gene polymorphisms on the pharmacokinetics and pharmacodynamics of prasugrel 5-mg, prasugrel 10-mg and clopidogrel 75-mg in patients with coronary artery disease. 
  • The effect of alpha-v integrin inhibition on the malignant characteristics of medulloblastoma. 
  • The effect of elinogrel on high platelet reactivity during dual antiplatelet therapy and the relation to CYP2C19*2 genotype: first experience in patients. 
  • The effect of enzymatically degradable poly(ethylene glycol) hydrogels on smooth muscle cell phenotype. 
  • The emerging phenotype of late-onset Pompe disease: A systematic literature review. 
  • The emerging phenotype of long-term survivors with infantile Pompe disease. 
  • The extent and genetic basis of phenotypic divergence in life history traits in Mimulus guttatus. 
  • The fruitless gene is required for the proper formation of axonal tracts in the embryonic central nervous system of Drosophila. 
  • The future of cardiovascular clinical research: informatics, clinical investigators, and community engagement. 
  • The gene expression profiles of medulloblastoma cell lines resistant to preactivated cyclophosphamide. 
  • The genetics of dementia in late life. 
  • The genome of the basidiomycetous yeast and human pathogen Cryptococcus neoformans. 
  • The genomic analysis of erythrocyte microRNA expression in sickle cell diseases. 
  • The homeodomain protein PAL-1 specifies a lineage-specific regulatory network in the C. elegans embryo. 
  • The hypoxic microenvironment maintains glioblastoma stem cells and promotes reprogramming towards a cancer stem cell phenotype. 
  • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 
  • The impact of HIV-1 infection on phenotypic and functional parameters of cellular immunity in chimpanzees. 
  • The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. 
  • The influence of CYP2C19 polymorphisms on the pharmacokinetics, pharmacodynamics, and clinical effectiveness of P2Y(12) inhibitors. 
  • The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart. 
  • The many substrates and functions of ATM. 
  • The matrix protein Fibulin-5 is at the interface of tissue stiffness and inflammation in fibrosis. 
  • The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation. 
  • The more things change, the more they stay the same? When is trait variability important for stability of ecosystem function in a changing environment. 
  • The myth of genetic enhancement. 
  • The nature of robustness in development. 
  • The near-naked hairless (Hr(N)) mutation disrupts hair formation but is not due to a mutation in the Hairless coding region. 
  • The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 
  • The pharmacogenetics of antiplatelet agents: towards personalized therapy? 
  • The phenotypic and genetic signatures of common musculoskeletal pain conditions. 
  • The potential to predict the course of childhood asthma. 
  • The prevalence of age-related macular degeneration in Asians: a systematic review and meta-analysis. 
  • The primary antibody repertoire: the somatic genotype and paratopic phenotype of B-cell populations. 
  • The pulling, pushing and fusing of lens fibers: a role for Rho GTPases. 
  • The quick and the dead: microbial demography at the yeast thermal limit. 
  • The regulatory light chain of nonmuscle myosin is encoded by spaghetti-squash, a gene required for cytokinesis in Drosophila. 
  • The relation between CYP2C19 genotype and phenotype in stented patients on maintenance dual antiplatelet therapy. 
  • The relationship between restrictive and repetitive behaviors in individuals with autism and obsessive compulsive symptoms in parents. 
  • The relationship between retinal arteriolar and venular calibers is genetically mediated, and each is associated with risk of cardiovascular disease. 
  • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 
  • The role of HOM-C genes in segmental transformations: reexamination of the Drosophila Sex combs reduced embryonic phenotype. 
  • The role of Osteopontin in tumor metastasis. 
  • The role of developmental plasticity in evolutionary innovation. 
  • The roles of the bacteriophage T4 r genes in lysis inhibition and fine-structure genetics: a new perspective. 
  • The scarlet eye colour gene of the tephritid fruit fly: Bactrocera tryoni and the nature of two eye colour mutations. 
  • The segment polarity phenotype of Drosophila involves differential tendencies toward transformation and cell death. 
  • The study of nevi in British twins: study design and description of the data set. 
  • The surface envelope protein gene region of equine infectious anemia virus is not an important determinant of tropism in vitro. 
  • The tRNA-Tyr gene family of Saccharomyces cerevisiae: agents of phenotypic variation and position effects on mutation frequency. 
  • The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice. Differential impact on pulmonary and immunologic abnormalities. 
  • The von Hippel-Lindau tumor suppressor gene inhibits hepatocyte growth factor/scatter factor-induced invasion and branching morphogenesis in renal carcinoma cells. 
  • The winged helix gene, Mf3, is required for normal development of the diencephalon and midbrain, postnatal growth and the milk-ejection reflex. 
  • The winged helix transcription factor Foxc1a is essential for somitogenesis in zebrafish. 
  • The worry about clopidogrel "nonresponsiveness": identification and treatment in the post-percutaneous coronary intervention patient. 
  • Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 
  • This paper is the winner of an SFB Award in the Hospital Intern, Residency category: Peptide biomaterials raising adaptive immune responses in wound healing contexts. 
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 
  • Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. 
  • Threonine biosynthetic genes are essential in Cryptococcus neoformans. 
  • Thymic epithelial defects and predisposition to autoimmune disease in BB rats. 
  • Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 
  • Thymoma: lymphoid and epithelial components mirror the phenotype of normal thymus. 
  • Timing of plant immune responses by a central circadian regulator. 
  • Tissue-engineered cardiac patch for advanced functional maturation of human ESC-derived cardiomyocytes. 
  • Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. 
  • Toward Synthesizing Our Knowledge of Morphology: Using Ontologies and Machine Reasoning to Extract Presence/Absence Evolutionary Phenotypes across Studies. 
  • Toward molecular understanding of polar overdominance at the ovine callipyge locus. 
  • Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 
  • Trait-to-gene: a computational method for predicting the function of uncharacterized genes. 
  • Transcription factor Nrf2 hyperactivation in early-phase renal ischemia-reperfusion injury prevents tubular damage progression. 
  • Transcriptional profile of the Arabidopsis root quiescent center. 
  • Transcriptomic biomarkers for the accurate diagnosis of myocarditis. 
  • Transformation of alkylating regimen of thiotepa into tepa determines the disease progression through GSTP1 gene polymorphism for metastatic breast cancer patients receiving thiotepa containing salvage chemotherapy. 
  • Transmembrane sema4E guides branchiomotor axons to their targets in zebrafish. 
  • Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. 
  • Trial Design and Objectives for Castration-Resistant Prostate Cancer: Updated Recommendations From the Prostate Cancer Clinical Trials Working Group 3. 
  • Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice. 
  • True paternal care in a multi-male primate society. 
  • Twin studies of psychopathology: why do the concordance rates vary? 
  • Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins. 
  • Two cyclophilin A homologs with shared and distinct functions important for growth and virulence of Cryptococcus neoformans. 
  • Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Two new loci, PLEIADE and HYADE, implicate organ-specific regulation of cytokinesis in Arabidopsis. 
  • Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. 
  • Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: a multicenter association study. 
  • Understanding rice adaptation to varying agro-ecosystems: trait interactions and quantitative trait loci. 
  • Understanding the phenotypic structure of adult retrospective ADHD symptoms during childhood in the United States. 
  • Understanding the tumor microenvironment and radioresistance by combining functional imaging with global gene expression. 
  • Unifying genetic canalization, genetic constraint, and genotype-by-environment interaction: QTL by genomic background by environment interaction of flowering time in Boechera stricta. 
  • Unisexual and heterosexual meiotic reproduction generate aneuploidy and phenotypic diversity de novo in the yeast Cryptococcus neoformans. 
  • Unisexual reproduction drives meiotic recombination and phenotypic and karyotypic plasticity in Cryptococcus neoformans. 
  • Unmasking a role for sex chromosomes in gene silencing. 
  • Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 
  • Use of laser scanning cytometry to study tumor microenvironment. 
  • Using the phenoscape knowledgebase to relate genetic perturbations to phenotypic evolution. 
  • Utility of thiopurine methyltransferase genotyping and phenotyping, and measurement of azathioprine metabolites in the management of patients with autoimmune hepatitis. 
  • VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy? 
  • Vaccination with T cell-defined antigens. 
  • Validation and Refinement of Chronic Lung Allograft Dysfunction Phenotypes in Bilateral and Single Lung Recipients. 
  • Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants. 
  • Validation of the association between a branched chain amino acid metabolite profile and extremes of coronary artery disease in patients referred for cardiac catheterization. 
  • Variable phenotypic expression of mutations in genes of the immune system. 
  • Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review. 
  • Vascularized composite allotransplantation: a closer look at the banff working classification. 
  • Vasomotor instability in neonates with chromosome 22q11 deletion syndrome. 
  • Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. 
  • Viral quasi-species evolution during hepatitis Be antigen seroconversion. 
  • Virulence determinants in the obligate intracellular pathogen Chlamydia trachomatis revealed by forward genetic approaches. 
  • Viruses and microRNAs: RISCy interactions with serious consequences. 
  • Vision of correction for classic homocystinuria. 
  • Vmat2 heterozygous mutant mice display a depressive-like phenotype. 
  • WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. 
  • What can knockout mice contribute to an understanding of hypertension? 
  • When sensing is gambling: An experimental system reveals how plasticity can generate tunable bet-hedging strategies. 
  • Which evolutionary processes influence natural genetic variation for phenotypic traits? 
  • Whole blood gene expression profiles distinguish clinical phenotypes of venous thromboembolism. 
  • Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome. 
  • Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. 
  • Whole genome sequencing identifies circulating Beijing-lineage Mycobacterium tuberculosis strains in Guatemala and an associated urban outbreak. 
  • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. 
  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 
  • Whole-exome sequencing of a pedigree segregating asthma. 
  • Wnt2 coordinates the commitment of mesoderm to hematopoietic, endothelial, and cardiac lineages in embryoid bodies. 
  • Working memory impairment in probands with schizoaffective disorder and first degree relatives of schizophrenia probands extend beyond deficits predicted by generalized neuropsychological impairment. 
  • X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. 
  • Yantar, a conserved arginine-rich protein is involved in Drosophila hemocyte development. 
  • ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. 
  • Zebrafish assays of ciliopathies. 
  • Zidovudine resistance, syncytium-inducing phenotype, and HIV disease progression in a case-control study. The VA Cooperative Study Group. 
  • beta cell-specific CD4+ T cell clonotypes in peripheral blood and the pancreatic islets are distinct. 
  • beta-Catenin is not necessary for maintenance or repair of the bronchiolar epithelium. 
  • crinkled reveals a new role for Wingless signaling in Drosophila denticle formation. 
  • dictyBase--a Dictyostelium bioinformatics resource update. 
  • microRNA miR-144 modulates oxidative stress tolerance and associates with anemia severity in sickle cell disease. 
  • myotilin Mutation found in second pedigree with LGMD1A. 
  • optix drives the repeated convergent evolution of butterfly wing pattern mimicry. 
• 

  Keywords of People

  • Abbruzzese, James, D. C. I. Professor of Medical Oncology, Medicine, Medical Oncology
  • Alberts, Susan C., Robert F. Durden Professor of Biology, Duke Science & Society
  • Allori, Alexander C, Assistant Professor of Surgery, Surgery, Plastic, Maxillofacial, and Oral Surgery
  • Badea, Cristian Tudorel, Associate Professor in Radiology, Radiology
  • Bejsovec, Amy, Associate Professor of Biology, Biology
  • Bennett, Vann, George B. Geller Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Bowes Rickman, Catherine, Associate Professor of Ophthalmology, Cell Biology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Case, Laura Elizabeth, Assistant Professor of Orthopaedic Surgery, Orthopaedics, Physical Therapy
  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
  • Dunson, David B., Arts and Sciences Professor of Statistical Science, Electrical and Computer Engineering
  • Erickson, Harold Paul, James B. Duke Professor of Cell Biology, Biomedical Engineering
  • Ferrari, Guido, Associate Professor of Surgery, Molecular Genetics and Microbiology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Hilton, Matthew James, Associate Professor in Orthopaedic Surgery, Cell Biology
  • Hogan, Brigid L. M., George Barth Geller Professor, Cell Biology
  • Johnson, G. Allan, Charles E. Putman University Professor of Radiology, Physics
  • Jowell, Paul Simon, Professor of Medicine, Medicine, Gastroenterology
  • Krangel, Michael S., Mary Bernheim Professor of Immunology, Immunology
  • Li, Yi-Ju, Associate Professor of Biostatistics and Bioinformatics, Biostatistics & Bioinformatics
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Milano, Carmelo Alessio, Professor of Surgery, Surgery, Cardiovascular and Thoracic Surgery
  • Moorman, Patricia Gripka, Professor in Community and Family Medicine, Duke Cancer Institute
  • Muir, Kelly Walton, Associate Professor of Ophthalmology, Ophthalmology, Glaucoma
  • Murdoch, David Martin, Associate Professor of Medicine, Medicine, Pulmonary, Allergy, and Critical Care Medicine
  • Premont, Richard Thomas, Associate Professor in Medicine, Medicine, Gastroenterology
  • Roth, V. Louise, Professor in the Department of Biology, Evolutionary Anthropology
  • Shinohara, Mari L., Associate Professor of Immunology, Immunology
  • Starmer, Charles Franklin, Professor Emeritus of Computer Science, Computer Science
  • Steinbach, William J., Professor of Pediatrics, Molecular Genetics and Microbiology
  • Weinhold, Kent James, Joseph W. and Dorothy W. Beard Professor of Experimental Surgery, in the School of Medicine, Immunology
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology