Heterozygote

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  Subject Areas on Research

  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • 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 comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 
  • 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 heterozygous IDH1R132H/WT mutation induces genome-wide alterations in DNA methylation. 
  • A mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5. 
  • A murine model for short-chain acyl-CoA dehydrogenase deficiency. 
  • A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. 
  • A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 
  • A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. 
  • A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. 
  • A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. 
  • A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 
  • A spectrum of severe familial liver disorders associate with telomerase mutations. 
  • ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 
  • APOE region molecular signatures of Alzheimer's disease across races/ethnicities. 
  • APOE ɛ4 allele and TOMM40-APOC1 variants jointly contribute to survival to older ages. 
  • APOE ε4 associated with preserved executive function performance and maintenance of temporal and cingulate brain volumes in younger adults. 
  • APOE, TOMM40, and sex interactions on neural network connectivity. 
  • ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations. 
  • Abnormal postnatal maintenance of elevated DLK1 transcript levels in callipyge sheep. 
  • Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. 
  • Accelerated Marfan syndrome model recapitulates established signaling pathways. 
  • Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 
  • Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 
  • 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 deficiency in adults. 
  • Age, gender, and cancer but not neurodegenerative and cardiovascular diseases strongly modulate systemic effect of the Apolipoprotein E4 allele on lifespan. 
  • Alirocumab dosing patterns during 40 months of open-label treatment in patients with heterozygous familial hypercholesterolemia. 
  • Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression. 
  • Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. 
  • Alterations of the TP53 gene in human gliomas. 
  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 
  • An evaluation of copy number variation detection tools from whole-exome sequencing data. 
  • Analysis of globin gene structure in patients with beta thalassemia by restriction endonuclease mapping. 
  • Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. 
  • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 
  • Apolipoprotein E gene and retinal microvascular signs in older people: the Cardiovascular Health Study. 
  • Apolipoprotein E isoform mediated regulation of nitric oxide release. 
  • Association between APOE epsilon 2/epsilon 3/epsilon 4 polymorphism and disability severity in a national long-term care survey sample. 
  • Association of ALS with head injury, cigarette smoking and APOE genotypes. 
  • Association of IL6ST (gp130) Polymorphism with Functional Outcome Following Spontaneous Intracerebral Hemorrhage. 
  • Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. 
  • Association of rare, recurrent nonsynonymous variants in the germline of prostate cancer patients of African ancestry. 
  • Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population. 
  • Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. 
  • Autophagy links inflammasomes to atherosclerotic progression. 
  • BRCA1 mutations in primary breast and ovarian carcinomas. 
  • BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. 
  • BRCA2 mutations in primary breast and ovarian cancers. 
  • Bipolar disorder, brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and brain morphology. 
  • Bone morphogenetic protein 4 mediates myocardial ischemic injury through JNK-dependent signaling pathway. 
  • 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. 
  • Brain-derived neurotrophic factor val66met polymorphism and hippocampal activation during episodic encoding and retrieval tasks. 
  • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 
  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. 
  • CD45-deficient severe combined immunodeficiency caused by uniparental disomy. 
  • Calcium-dependent cytosolic phospholipase A2 activation is implicated in neuroinflammation and oxidative stress associated with ApoE4. 
  • Callipyge mutation affects gene expression in cis: a potential role for chromatin structure. 
  • Carcinogen 7,12-dimethylbenz[a]anthracene-induced mammary tumorigenesis is accelerated in Smad3 heterozygous mice compared to Smad3 wild type mice. 
  • Carrier testing in fragile X syndrome: when to tell and test. 
  • Cerebellar defects in Ca2+/calmodulin kinase IV-deficient mice. 
  • Changes in Aβ biomarkers and associations with APOE genotype in 2 longitudinal cohorts. 
  • Characteristic features of granular deposit formation in granular corneal dystrophy type 2. 
  • Characterization of BRCA1 and BRCA2 mutations in a large United States sample. 
  • Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice. 
  • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 
  • Chromosome 10 deletion mapping in human gliomas: a common deletion region in 10q25. 
  • Clinical and genetic characterization of manifesting carriers of DMD mutations. 
  • Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. 
  • Clonal origin of epithelial ovarian carcinoma: analysis by loss of heterozygosity, p53 mutation, and X-chromosome inactivation. 
  • Coevolution of the major histocompatibility complex and the t-complex in the mouse. I. Generation and maintenance of high complementarity associations. 
  • Coevolution of the major histocompatibility complex and the t-complex in the mouse. II. Modification of response to sharing of histocompatibility antigens. 
  • Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 
  • Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 
  • Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. 
  • Competition between adjacent meiotic recombination hotspots in the yeast Saccharomyces cerevisiae. 
  • Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer. 
  • Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. 
  • De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 
  • De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 
  • De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 
  • De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. 
  • Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand.. 
  • Decrease in the lgl tumor suppressor dose in Drosophila increases survival and longevity in stress conditions. 
  • Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk. 
  • Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. 
  • Depression, Stressful Life Events, and the Impact of Variation in the Serotonin Transporter: Findings from the National Longitudinal Study of Adolescent to Adult Health (Add Health). 
  • Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. 
  • Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. 
  • Diploid strains of the pathogenic basidiomycete Cryptococcus neoformans are thermally dimorphic. 
  • Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 
  • Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Dosing clopidogrel based on CYP2C19 genotype and the effect on platelet reactivity in patients with stable cardiovascular disease. 
  • Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry. 
  • Ductal carcinoma in situ in BRCA mutation carriers. 
  • Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2. 
  • Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history. 
  • Effect of citrus juice and SLCO2B1 genotype on the pharmacokinetics of montelukast. 
  • Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats. 
  • Effects of FOXO genotypes on longevity: a biodemographic analysis. 
  • Effects of inversions on within- and between-species recombination and divergence. 
  • Efficacy of clopidogrel for stroke depends on CYP2C19 genotype and risk profile. 
  • Elevated risk of prostate cancer among men with Lynch syndrome. 
  • Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. 
  • Essential roles of S-nitrosothiols in vascular homeostasis and endotoxic shock. 
  • Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach. 
  • Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 
  • Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. 
  • Evolution of flux control in the glucosinolate pathway in Arabidopsis thaliana. 
  • Evolutionary and biomedical insights from a marmoset diploid genome assembly. 
  • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. 
  • Experimental models of human carcinogenesis. 
  • Expression and trans-specific polymorphism of self-incompatibility RNases in coffea (Rubiaceae). 
  • Expression of the gene defect in X-linked agammaglobulinemia. 
  • FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 
  • Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 
  • Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 
  • Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 
  • 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. 
  • Frequent loss of heterozygosity on chromosome arm 18q in squamous cell carcinomas. Identification of 2 regions of loss--18q11.1-q12.3 and 18q21.1-q23. 
  • Fruit flies, bile acids, and Parkinson disease: a mitochondrial connection? 
  • Functional analysis of Wingless reveals a link between intercellular ligand transport and dorsal-cell-specific signaling. 
  • Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 
  • Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. 
  • Functional epialleles at an endogenous human centromere. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Functional polymorphisms of matrix metalloproteinase-9 are associated with risk of occurrence and metastasis of lung cancer. 
  • Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300. 
  • Gene dose-dependent control of hematopoiesis and hematologic tumor suppression by CBP. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians. 
  • Genetic and hormonal sensitivity to threat: testing a serotonin transporter genotype × testosterone interaction. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic diversity is a predictor of mortality in humans. 
  • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. 
  • Genetic prevalence and characteristics in children with recurrent pancreatitis. 
  • Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. 
  • Genetic structure and genealogy in the Sphagnum subsecundum complex (Sphagnaceae: Bryophyta). 
  • Genetic structure of typical and atypical populations of Candida albicans from Africa. 
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 
  • Genomic structure of and genome-wide recombination in the Saccharomyces cerevisiae S288C progenitor isolate EM93. 
  • Genotype-phenotype correlation in MYH9-related thrombocytopenia. 
  • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 
  • Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. 
  • Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. 
  • Glutathione peroxidase-deficient smooth muscle cells cause paracrine activation of normal smooth muscle cells via cyclophilin A. 
  • HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. 
  • HLA class I allelic diversity and progression of fibrosis in patients with chronic hepatitis C. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Haploidy and androgenesis in Drosophila. 
  • 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. 
  • Hemoglobin Deer Lodge (beta 2 His replaced by Arg). Consequences of altering the 2,3-diphosphoglycerate binding site. 
  • 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. 
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 
  • Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease. 
  • Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. 
  • Honest olfactory ornamentation in a female-dominant primate. 
  • Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. 
  • Hyperpolarized 129 Xe gas transfer MRI: the transition from 1.5T to 3T. 
  • Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. 
  • Identification and Quantitation of Coding Variants and Isoforms of Pulmonary Surfactant Protein A. 
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. 
  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 
  • Identification of a novel mutation (C321X) in HJV. 
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 
  • Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. 
  • Identification of the sex genes in an early diverged fungus. 
  • Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. 
  • Immuno-characterization of the switch of peptide elongation factors eEF1A-1/EF-1alpha and eEF1A-2/S1 in the central nervous system during mouse development. 
  • Immunohistochemical evidence of seizure-induced activation of trkB receptors in the mossy fiber pathway of adult mouse hippocampus. 
  • Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 
  • Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer. 
  • Impairment of kindling development in phospholipase Cγ1 heterozygous mice. 
  • Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. 
  • Influence of CYP2C19*2 and *3 loss-of-function alleles on the pharmacodynamic effects of standard- and high-dose clopidogrel in East Asians undergoing percutaneous coronary intervention: the results of the ACCEL-DOUBLE-2N3 study. 
  • 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. 
  • Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 
  • Interrogating the Roles of Mutation-Selection Balance, Heterozygote Advantage, and Linked Selection in Maintaining Recessive Lethal Variation in Natural Populations. 
  • Interval mapping of viability loci causing heterosis in Arabidopsis. 
  • Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene. 
  • Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C. 
  • Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. 
  • Isoprenylcysteine carboxyl methyltransferase deficiency in mice. 
  • Joint effects of smoking history and APOE genotypes in age-related macular degeneration. 
  • LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Lack of genomic imprinting of DNA primase, polypeptide 2 (PRIM2) in human term placenta and white blood cells. 
  • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. 
  • 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". 
  • Letter: Erythrocytes in human muscular dystrophy. 
  • Living related versus deceased donor liver transplantation for maple syrup urine disease. 
  • Long-term safety and efficacy of alirocumab in patients with heterozygous familial hypercholesterolemia: An open-label extension of the ODYSSEY program. 
  • Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry. 
  • Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. 
  • Loss of atm radiosensitizes multiple p53 null tissues. 
  • Loss of heterozygosity on chromosome 17q11-21 in cancers of women who have both breast and ovarian cancer. 
  • Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. 
  • Loss of the cytoskeletal protein Pdlim7 predisposes mice to heart defects and hemostatic dysfunction. 
  • M6P/IGF2 receptor: a candidate breast tumor suppressor gene. 
  • MAPT rs242557 variant is associated with hippocampus tau uptake on 18F-AV-1451 PET in non-demented elders. 
  • Macroecological patterns of genetic structure and diversity in the aquatic moss Platyhypnidium riparioides. 
  • Marrow transplantation for thalassaemia. 
  • Matrix metalloproteinase-1 gene promoter polymorphism and risk of ovarian cancer. 
  • Measurements of excision repair tracts formed during meiotic recombination in Saccharomyces cerevisiae. 
  • Mechanisms for dominance: Adh heterodimer formation in heterozygotes between ENU or X-ray induced null alleles and normal alleles in Drosophila melanogaster. 
  • Mechanistic insights into cancer cell killing through interaction of phosphodiesterase 3A and schlafen family member 12. 
  • 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. 
  • Meiotic recombination involving heterozygous large insertions in Saccharomyces cerevisiae: formation and repair of large, unpaired DNA loops. 
  • Meiotic recombination within the centromere of a yeast chromosome. 
  • Mice carrying a conditional Serca2(flox) allele for the generation of Ca(2+) handling-deficient mouse models. 
  • Mice with duplications and deletions at the Tme locus have altered MnSOD activity. 
  • Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. 
  • Microsatellite analysis of childhood brain tumors. 
  • Microsatellite analysis of genetic diversity among clinical and nonclinical Saccharomyces cerevisiae isolates suggests heterozygote advantage in clinical environments. 
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. 
  • Molecular mechanisms of spontaneous and induced loss of heterozygosity in human cells in vitro. 
  • Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 
  • Most of the yeast genomic sequences are not essential for cell growth and division. 
  • Mouse embryonic stem cells carrying one or two defective Msh2 alleles respond abnormally to oxidative stress inflicted by low-level radiation. 
  • Mouse model of Timothy syndrome recapitulates triad of autistic traits. 
  • Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. 
  • Mouse small eye results from mutations in a paired-like homeobox-containing gene. 
  • Multilocus sequence typing suggests the chytrid pathogen of amphibians is a recently emerged clone. 
  • Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. 
  • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. 
  • Natural selection on a leaf-shape polymorphism in the ivyleaf morning glory (Ipomoea hederacea). 
  • Nephrotoxicity and hepatotoxicity induced by inhaled bromodichloromethane in wild-type and p53-heterozygous mice. 
  • Neuroanatomical phenotypes in the reeler mouse. 
  • Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. 
  • New observation of sialuria prompts detection of liver tumor in previously reported patient. 
  • No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. 
  • No association between the HLA-A2 allele and Alzheimer disease. 
  • No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. 
  • Non-additive and epistatic effects of HLA polymorphisms contributing to risk of adult glioma. 
  • Nonlinear developmental processes as sources of dominance. 
  • Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. 
  • Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 
  • Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2. 
  • 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. 
  • Novelty seeking and stereotypic activation of behavior in mice with disruption of the Dat1 gene. 
  • Obesity and diabetes genetic variants associated with gestational weight gain. 
  • 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. 
  • Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis. 
  • PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. 
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. 
  • Patterns of brain activation in people at risk for Alzheimer's disease. 
  • Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity. 
  • Pervasive gene conversion in chromosomal inversion heterozygotes. 
  • Plant sex and the evolution of plant defenses against herbivores. 
  • Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. 
  • Portal vein thrombosis: an unexpected finding in a 28-year-old male with abdominal pain. 
  • Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing. 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. 
  • Pressure-overload hypertrophy is unabated in mice devoid of AT1A receptors. 
  • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. 
  • Prognostic implications of chromosome 17p deletions in human medulloblastomas. 
  • Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. 
  • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. 
  • Protective association of the ε2/ε3 heterozygote with Alzheimer's disease is strengthened by TOMM40-APOE variants in men. 
  • Reducing cerebral microvascular amyloid-beta protein deposition diminishes regional neuroinflammation in vasculotropic mutant amyloid precursor protein transgenic mice. 
  • Regional Variations in Alirocumab Dosing Patterns in Patients with Heterozygous Familial Hypercholesterolemia During an Open-Label Extension Study. 
  • Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. 
  • Regulation of E2A activities by histone acetyltransferases in B lymphocyte development. 
  • Regulation of blood pressure by the type 1A angiotensin II receptor gene. 
  • Relationship of cognitive reserve and APOE status to the emergence of clinical symptoms in preclinical Alzheimer's disease. 
  • Renal growth and development in mice lacking AT1A receptors for angiotensin II. 
  • Retinoid-related orphan receptor gamma (RORgamma) is essential for lymphoid organogenesis and controls apoptosis during thymopoiesis. 
  • Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. 
  • Risk Factor Burden and Long-Term Prognosis of Patients With Premature Coronary Artery Disease. 
  • Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 
  • Role of genotype-based personalized antiplatelet therapy in the era of potent P2Y₁₂ receptor inhibitors. 
  • SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization. 
  • SLITRK1 mutations in trichotillomania. 
  • Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation. 
  • Selection and analysis of spontaneous reciprocal mitotic cross-overs in Saccharomyces cerevisiae. 
  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. 
  • Serotype AD strains of Cryptococcus neoformans are diploid or aneuploid and are heterozygous at the mating-type locus. 
  • Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. 
  • Short/long heterozygotes at 5HTTLPR and white matter lesions in geriatric depression. 
  • Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. 
  • Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver. 
  • Smelling right: the scent of male lemurs advertises genetic quality and relatedness. 
  • Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA. 
  • Structure-Function Analysis of Interallelic Complementation in ROOTY Transheterozygotes. 
  • Suppression of food intake by glucagon-like peptide-1 receptor agonists: relative potencies and role of dipeptidyl peptidase-4. 
  • Susceptibility to vascular neoplasms but no increased susceptibility to renal carcinogenesis in Vhl knockout mice. 
  • TNXB mutations can cause vesicoureteral reflux. 
  • Targeted expression of calmodulin increases ventricular cardiomyocyte proliferation and deoxyribonucleic acid synthesis during mouse development. 
  • Targeting the vascular-specific phosphatase PTPRB protects against retinal ganglion cell loss in a pre-clinical model of glaucoma. 
  • Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney. 
  • Temporal lobe functional activity and connectivity in young adult APOE varepsilon4 carriers. 
  • Testing for hereditary breast and ovarian cancer in the southeastern United States. 
  • Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies. 
  • The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. 
  • The FoxO3 gene and cause-specific mortality. 
  • The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. 
  • The RGD motif in fibronectin is essential for development but dispensable for fibril assembly. 
  • The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction. 
  • The Tn3 beta-lactamase gene acts as a hotspot for meiotic recombination in yeast. 
  • The anorectic effect of GLP-1 in rats is nutrient dependent. 
  • The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. 
  • The effects of plant sex on range distribution and allocation to reproduction. 
  • The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. 
  • The fruitless gene is required for the proper formation of axonal tracts in the embryonic central nervous system of Drosophila. 
  • The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response. 
  • The genetic attributable risk of breast and ovarian cancer. 
  • The helix-loop-helix gene E2A is required for B cell formation. 
  • The impact of APOE genotype on survival: Results of 38,537 participants from six population-based cohorts (E2-CHARGE). 
  • The importance of the retinoid X receptor alpha in modulating inflammatory signaling in acute murine colitis. 
  • The mouse forkhead gene Foxc1 is required for primordial germ cell migration and antral follicle development. 
  • The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. 
  • The prostaglandin E2 EP1 receptor mediates pain perception and regulates blood pressure. 
  • The scale of population structure in Arabidopsis thaliana 
  • The winged helix gene, Mf3, is required for normal development of the diencephalon and midbrain, postnatal growth and the milk-ejection reflex. 
  • Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis. 
  • Tissue-specific inactivation of murine M6P/IGF2R. 
  • Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. 
  • Transcriptional Timers Regulating Mitosis in Early Drosophila Embryos. 
  • Transgenic expression of pancreatic secretory trypsin inhibitor-1 rescues SPINK3-deficient mice and restores a normal pancreatic phenotype. 
  • Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. 
  • Treatment with the nitric oxide synthase inhibitor L-NAME provides a survival advantage in a mouse model of Kras mutation-positive, non-small cell lung cancer. 
  • Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. 
  • Type II collagen gene variants and inherited osteonecrosis of the femoral head. 
  • Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers. 
  • Use of HLA-B*58:01 genotyping to prevent allopurinol induced severe cutaneous adverse reactions in Taiwan: national prospective cohort study. 
  • Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium. 
  • Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study. 
  • Vmat2 heterozygous mutant mice display a depressive-like phenotype. 
  • When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families. 
  • Who to Enroll in Parkinson Disease Prevention Trials? The Case for Genetically At-Risk Cohorts. 
  • Wnt2 coordinates the commitment of mesoderm to hematopoietic, endothelial, and cardiac lineages in embryoid bodies. 
  • [Livedoid vasculopathy with heterozygous factor V Leiden mutation and sticky platelet syndrome]. 
  • β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Erickson, Harold Paul, James B. Duke Distinguished Professor Emeritus, Cell Biology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Jowell, Paul Simon, Professor of Medicine, Medicine, Gastroenterology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute