Homozygote

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  Subject Areas on Research

  • 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. 
  • 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 
  • A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma. 
  • A common variant on chromosome 9p21 affects the risk of myocardial infarction. 
  • A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. 
  • A decrease in the dose of the lgl tumor suppressor increases life span of Drosophila in stress and is related to the maternal effect. 
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. 
  • A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein. 
  • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 
  • A nonsense mutation in IKBKB causes combined immunodeficiency. 
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 
  • A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. 
  • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 
  • A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder. 
  • A role for the CD38 rs3796863 polymorphism in alcohol and monetary reward: evidence from CD38 knockout mice and alcohol self-administration, [11C]-raclopride binding, and functional MRI in humans. 
  • A second generation human haplotype map of over 3.1 million SNPs. 
  • A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 
  • ABI2-deficient mice exhibit defective cell migration, aberrant dendritic spine morphogenesis, and deficits in learning and memory. 
  • ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 
  • APOE region molecular signatures of Alzheimer's disease across races/ethnicities. 
  • Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency. 
  • Adaptive mechanisms that preserve cardiac function in mice without myoglobin. 
  • Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. 
  • Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. 
  • An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 
  • An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons. 
  • Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. 
  • Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping. 
  • Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group. 
  • Apolipoprotein E gene and retinal microvascular signs in older people: the Cardiovascular Health Study. 
  • Apolipoprotein E isoform mediated regulation of nitric oxide release. 
  • Aspirin resistance and a single gene. 
  • Association between a rare novel TP53 variant (rs78378222) and melanoma, squamous cell carcinoma of head and neck and lung cancer susceptibility in non-Hispanic Whites. 
  • Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage. 
  • Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. 
  • Association of uridine diphosphate-glucuronosyltransferase 2B gene variants with serum glucuronide levels and prostate cancer risk. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • BMP4 is essential for lens induction in the mouse embryo. 
  • Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. 
  • Bone morphogenetic protein 8A plays a role in the maintenance of spermatogenesis and the integrity of the epididymis. 
  • Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse. 
  • Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. 
  • CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 
  • CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. 
  • COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis. 
  • COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 
  • Cerebellar defects in Ca2+/calmodulin kinase IV-deficient mice. 
  • Characteristic features of granular deposit formation in granular corneal dystrophy type 2. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest. 
  • Chromosome breakage in Drosophila melanogaster induced by a monofunctional alkylating agent (EMS). 
  • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 
  • Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. 
  • Coevolution of self-fertilization and inbreeding depression. III. Homozygous lethal mutations at multiple loci. 
  • Combined loss of neuronal and endothelial nitric oxide synthase causes premature mortality and age-related hypertrophic cardiac remodeling in mice. 
  • Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. 
  • Comprehensive Molecular and Pathologic Evaluation of Transitional Mesothelioma Assisted by Deep Learning Approach: A Multi-Institutional Study of the International Mesothelioma Panel from the MESOPATH Reference Center. 
  • Consistent production of transgenic chickens using replication-deficient retroviral vectors and high-throughput screening procedures. 
  • Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry. 
  • Cyclin D1 G870A polymorphism and breast cancer risk: a meta-analysis comprising 9,911 cases and 11,171 controls. 
  • DNA repair gene polymorphisms and risk of pancreatic cancer. 
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 
  • Deficiencies in pro-thyrotropin-releasing hormone processing and abnormalities in thermoregulation in Cpefat/fat mice. 
  • Deficits in reproduction and pro-gonadotropin-releasing hormone processing in male Cpefat mice. 
  • Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk. 
  • Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. 
  • Delineating the requirements for spontaneous DNA damage resistance pathways in genome maintenance and viability in Saccharomyces cerevisiae. 
  • Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory. 
  • Differential inactivation of CDKN2 and Rb protein in non-small-cell and small-cell lung cancer cell lines. 
  • Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss. 
  • 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 leptin signaling contributes to cardiac hypertrophy independently of body weight in mice. 
  • Dissociation of frontotemporal dementia-related deficits and neuroinflammation in progranulin haploinsufficient mice. 
  • Divergent phenotypes in Gaucher disease implicate the role of modifiers. 
  • Dosing clopidogrel based on CYP2C19 genotype and the effect on platelet reactivity in patients with stable cardiovascular disease. 
  • Drosophila as a model for the identification of genes causing adult human heart disease. 
  • Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function. 
  • Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening. 
  • Echocardiographic assessment of cardiac morphology and function in mutant dwarf rats. 
  • Effect of citrus juice and SLCO2B1 genotype on the pharmacokinetics of montelukast. 
  • Effect of the 5-HTTLPR polymorphism on posttraumatic stress disorder, depression, anxiety, and quality of life among Iraq and Afghanistan veterans. 
  • Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats. 
  • Essential role of beta-adrenergic receptor kinase 1 in cardiac development and function. 
  • Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 
  • Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. 
  • Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS. 
  • Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. 
  • Experimental models of human carcinogenesis. 
  • Extrapulmonary Aspergillus infection in patients with CARD9 deficiency. 
  • Formation of Rathke's pouch requires dual induction from the diencephalon. 
  • Four polymorphisms in cytochrome P450 1A1 (CYP1A1) gene and breast cancer risk: a meta-analysis. 
  • Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. 
  • Functional polymorphisms of matrix metalloproteinase-9 are associated with risk of occurrence and metastasis of lung cancer. 
  • Functional replacement of the mouse E2A gene with a human HEB cDNA. 
  • G-protein receptor kinase 3 (GRK3) influences opioid analgesic tolerance but not opioid withdrawal. 
  • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Generation of a Magoh conditional allele in mice. 
  • Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. 
  • Genetic variation in glutathione S-transferase omega-1, arsenic methyltransferase and methylene-tetrahydrofolate reductase, arsenic exposure and bladder cancer: a case-control study. 
  • Genome-wide identification of regulatory elements in Sertoli cells. 
  • Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men. 
  • Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. 
  • Glutathione S-transferase M null homozygosity and risk of systemic lupus erythematosus associated with sun exposure: a possible gene-environment interaction for autoimmunity. 
  • Growth failure and AIDS-like cachexia syndrome in HIV-1 transgenic mice. 
  • Haploidy and androgenesis in Drosophila. 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hippocampal long-term potentiation is normal in heme oxygenase-2 mutant mice. 
  • Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. 
  • Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency. 
  • Homozygous sickle cell disease and cystic fibrosis in an adolescent. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. 
  • IGF2R genetic variants, circulating IGF2 concentrations and colon cancer risk in African Americans and Whites. 
  • IL-4 induces differentiation and expansion of Th2 cytokine-producing eosinophils. 
  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 
  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 
  • Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. 
  • Immunohistochemical evidence of seizure-induced activation of trkB receptors in the mossy fiber pathway of adult mouse hippocampus. 
  • Immunohistochemical p16INK4a analysis of archival tumors with deletion, hypermethylation, or mutation of the CDKN2/MTS1 gene. A comparison of four commercial antibodies. 
  • In vitro development of inner cell masses isolated from t0/t0 and tW5/tW5 mouse embryos. 
  • Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. 
  • Induction by leptin of uncoupling protein-2 and enzymes of fatty acid oxidation. 
  • Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. 
  • Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. 
  • Interaction Between the FOXO1A-209 Genotype and Tea Drinking Is Significantly Associated with Reduced Mortality at Advanced Ages. 
  • Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene. 
  • Introduction to a symposium on sickle cell anemia: current results of comprehensive care and the evolving role of bone marrow transplantation. 
  • Isoprenylcysteine carboxyl methyltransferase deficiency in mice. 
  • Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 
  • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. 
  • Late onset Pompe Disease in India - Beyond the Caucasian phenotype. 
  • Letter by Gurbel et al regarding article, "Cytochrome 2C19*17 allelic variant, platelet aggregation, bleeding events, and stent thrombosis in clopidogrel-treated patients with coronary stent placement". 
  • Life with too much polyprenol: polyprenol reductase deficiency. 
  • Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome. 
  • Long contiguous stretches of homozygosity in the human genome. 
  • Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer. 
  • Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects. 
  • Matrix metalloproteinase-1 gene promoter polymorphism and risk of ovarian cancer. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 
  • Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. 
  • Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review. 
  • Mild cystic fibrosis in a consanguineous family. 
  • Mineralocorticoid receptor Iso/Val (rs5522) genotype moderates the association between previous childhood emotional neglect and amygdala reactivity. 
  • Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2. 
  • Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice. 
  • Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. 
  • Molecular and phenotypic characterization of a new mouse insertional mutation that causes a defect in the distal vertebrae of the spine. 
  • Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 
  • Murine congenital polycystic kidney disease: a model for studying development of cystic disease. 
  • Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. 
  • Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 
  • Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. 
  • Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. 
  • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. 
  • Myeloid-Specific Deletion of Mcl-1 Yields Severely Neutropenic Mice That Survive and Breed in Homozygous Form. 
  • Natural positive selection and north-south genetic diversity in East Asia. 
  • Natural selection on a leaf-shape polymorphism in the ivyleaf morning glory (Ipomoea hederacea). 
  • Negative life stress and longitudinal hippocampal volume changes in older adults with and without depression. 
  • Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. 
  • Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma. 
  • Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. 
  • Normal neutrophil function in cathepsin G-deficient mice. 
  • Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 
  • Novel human bronchial epithelial cell lines for cystic fibrosis research. 
  • Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 
  • Number of pregnancies and ovariectomy modify mammary carcinoma development in transgenic HER-2/neu female mice. 
  • Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 
  • On the evolution of genetic incompatibility systems. V. Origin of sporophytic self-incompatibility in response to overdominance in viability. 
  • On the evolution of genetic incompatibility systems. VI. A three-locus modifier model for the origin of gametophytic self-incompatibility. 
  • One-step and stepwise magnification of a bobbed lethal chromosome in Drosophila melanogaster. 
  • Partial resistance to infection by R5X4 primary HIV type 1 isolates in an exposed-uninfected individual homozygous for CCR5 32-base pair deletion. 
  • Pathway discovery in mantle cell lymphoma by integrated analysis of high-resolution gene expression and copy number profiling. 
  • Phenylalanine hydroxylase in dilute lethal mice. 
  • Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women  
  • Polymorphisms in HLA class I genes associated with both favorable prognosis of human immunodeficiency virus (HIV) type 1 infection and positive cytotoxic T-lymphocyte responses to ALVAC-HIV recombinant canarypox vaccines. 
  • Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study. 
  • Polymorphisms of vitamin D receptor gene protect against the risk of head and neck cancer. 
  • Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 
  • Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. 
  • Potentially functional variants of p14ARF are associated with HPV-positive oropharyngeal cancer patients and survival after definitive chemoradiotherapy. 
  • Prefrontal activation patterns in subjects at risk for Alzheimer disease. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Presenilin-1 polymorphism and Alzheimer's disease. 
  • Prevalence of heterozygotes for hemochromatosis in the white population of the United States. 
  • RNPS1 inhibits excessive tumor necrosis factor/tumor necrosis factor receptor signaling to support hematopoiesis in mice. 
  • 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. 
  • Regulation of E2A gene expression in B-lymphocyte development. 
  • Regulation of blood pressure by the type 1A angiotensin II receptor gene. 
  • Retinoid-related orphan receptor gamma (RORgamma) is essential for lymphoid organogenesis and controls apoptosis during thymopoiesis. 
  • SETD2 Haploinsufficiency Enhances Germinal Center-Associated AICDA Somatic Hypermutation to Drive B-cell Lymphomagenesis. 
  • Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 
  • Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 
  • Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. 
  • Six-Year Incidence and Risk Factors of Age-Related Macular Degeneration in Singaporean Indians: The Singapore Indian Eye Study. 
  • Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver. 
  • Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. 
  • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. 
  • Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 
  • Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 
  • Suppression of tumorigenesis and induction of p15(ink4b) by Smad4/DPC4 in human pancreatic cancer cells. 
  • TOMM40'523 variant and cognitive decline in older persons with APOE ε3/3 genotype. 
  • Targeted expression of calmodulin increases ventricular cardiomyocyte proliferation and deoxyribonucleic acid synthesis during mouse development. 
  • Targeted inactivation of the isoprenylcysteine carboxyl methyltransferase gene causes mislocalization of K-Ras in mammalian cells. 
  • Targeted replacement of the mouse apolipoprotein E gene with the common human APOE3 allele enhances diet-induced hypercholesterolemia and atherosclerosis. 
  • The 2021 WHO Classification of Tumors of the Pleura: Advances Since the 2015 Classification. 
  • The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adults. 
  • The FKBP5-gene in depression and treatment response--an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Cohort. 
  • The RNA-binding protein DND1 acts sequentially as a negative regulator of pluripotency and a positive regulator of epigenetic modifiers required for germ cell reprogramming. 
  • The Tn3 beta-lactamase gene acts as a hotspot for meiotic recombination in yeast. 
  • The effect of melatonin treatment regimen on mammary adenocarcinoma development in HER-2/neu transgenic mice. 
  • The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye. 
  • The fruitless gene is required for the proper formation of axonal tracts in the embryonic central nervous system of Drosophila. 
  • The gene encoding bone morphogenetic protein 8B is required for the initiation and maintenance of spermatogenesis in the mouse. 
  • The genetic landscape of gliomas arising after therapeutic radiation. 
  • The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression. 
  • The helix-loop-helix gene E2A is required for B cell formation. 
  • The homozygous CX3CR1-M280 mutation impairs human monocyte survival. 
  • The influence of Yaa on anti-DNA responses of B6-lpr mice. 
  • The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart. 
  • The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene. 
  • The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. 
  • The organizer factors Chordin and Noggin are required for mouse forebrain development. 
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. 
  • The segment polarity phenotype of Drosophila involves differential tendencies toward transformation and cell death. 
  • 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 MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. 
  • Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. 
  • Tissue-specific expression of the human CD19 gene in transgenic mice inhibits antigen-independent B-lymphocyte development. 
  • Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. 
  • Transferrin receptor is necessary for development of erythrocytes and the nervous system. 
  • Transplantation in miniature swine. 
  • Transplantation in miniature swine. II. In vitro parameters of histocompatibility in MSLA homozygous minipigs. 
  • Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium. 
  • Variations in Prkdc and susceptibility to benzene-induced toxicity in mice. 
  • Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice. 
  • Warts and DADA2: a Mere Coincidence? 
  • Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii. 
  • Wolman Disease: A Mimic of Infant Leukemia. 
  • XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. 
  • p53 codon 72 Arg homozygotes are associated with an increased risk of cutaneous melanoma. 
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  Keywords of People

  • Abbruzzese, James, D. C. I. Distinguished Professor of Medical Oncology, Medicine, Medical Oncology
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Laskowitz, Daniel Todd, Professor of Neurology, Duke Science & Society
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Preminger, Glenn Michael, James F. Glenn, M.D. Distinguished Professor of Urology, Surgery, Urology
  • Zhong, Xiaoping, Professor of Pediatrics, Integrative Immunobiology