Genes, Dominant

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  Subject Areas on Research

  • 2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations. 
  • A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 
  • A gene for familial venous malformations maps to chromosome 9p in a second large kindred. 
  • A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. 
  • A locus for cerebral cavernous malformations maps to chromosome 7q in two families. 
  • A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. 
  • A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. 
  • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. 
  • A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 
  • A reversible color polyphenism in American peppered moth (Biston betularia cognataria) caterpillars. 
  • A soluble factor(s) secreted from CD8(+) T lymphocytes inhibits human immunodeficiency virus type 1 replication through STAT1 activation. 
  • A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 
  • A tripartite interaction among alleles of Notch, Delta, and Enhancer of split during imaginal development of Drosophila melanogaster. 
  • A truncated isoform of c-Mpl with an essential C-terminal peptide targets the full-length receptor for degradation. 
  • Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1. 
  • Altered toll-like receptor responsiveness underlies a dominant heritable defect in B cell tolerance in autoimmune New Zealand Black mice. 
  • An MYH9 human disease model in flies: site-directed mutagenesis of the Drosophila non-muscle myosin II results in hypomorphic alleles with dominant character. 
  • Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 
  • Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. 
  • Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 
  • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 
  • BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. 
  • Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 
  • Caenorhabditis elegans DNA mismatch repair gene msh-2 is required for microsatellite stability and maintenance of genome integrity. 
  • Calcium-sensing receptor activation of rho involves filamin and rho-guanine nucleotide exchange factor. 
  • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 
  • Chromosome breakage in Drosophila melanogaster induced by a monofunctional alkylating agent (EMS). 
  • Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. 
  • Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 
  • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 
  • Clinical and pathologic features of familial focal segmental glomerulosclerosis. 
  • Coevolution of self-fertilization and inbreeding depression. II. Symmetric overdominance in viability. 
  • Computational Causal Modeling of the Dynamic Biomarker Cascade in Alzheimer's Disease. 
  • D21S194, a jump clone from D21S16. 
  • Differing mechanisms for glutamate receptor aggregation on dendritic spines and shafts in cultured hippocampal neurons. 
  • Dilated cardiomyopathy in transgenic mice expressing a mutant A subunit of protein phosphatase 2A. 
  • Directionality of wingless protein transport influences epidermal patterning in the Drosophila embryo. 
  • Dissecting the genetics of human high myopia: a molecular biologic approach. 
  • Dominance of wild-type p53-mediated transcriptional activation in breast epithelial cells. 
  • Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 
  • Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 
  • Dominant selection system for use in Cryptococcus neoformans. 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Dominant-negative androgen receptor inhibition of intracrine androgen-dependent growth of castration-recurrent prostate cancer. 
  • Drosophila RhoA regulates the cytoskeleton and cell-cell adhesion in the developing epidermis. 
  • Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. 
  • EKG abnormalities in pediatric patients with myotonic dystrophy. 
  • Evaluating haplotype effects in case-control studies via penalized-likelihood approaches: prospective or retrospective analysis? 
  • Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 
  • Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy. 
  • Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 
  • Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). 
  • Evidence that a locus for familial high myopia maps to chromosome 18p. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons. 
  • Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Familial polycythemia due to truncations of the erythropoietin receptor. 
  • Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. 
  • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin. 
  • Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. 
  • Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 
  • G protein signaling governing cell fate decisions involves opposing Galpha subunits in Cryptococcus neoformans. 
  • Gene copy-number variation in haploid and diploid strains of the yeast Saccharomyces cerevisiae. 
  • Genetic analysis of regulatory mutants of alkaline phosphatase of E. coli. 
  • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. 
  • Genetic variations in the mTOR gene contribute toward gastric adenocarcinoma susceptibility in an Eastern Chinese population. 
  • Genetics of parkin-linked disease. 
  • Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. 
  • Genome-wide scan for adult onset primary open angle glaucoma. 
  • Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 
  • Genotype-phenotype correlation in MYH9-related thrombocytopenia. 
  • Growth factor erv1-like modulates Drp1 to preserve mitochondrial dynamics and function in mouse embryonic stem cells. 
  • Hereditary progressive atrioventricular conduction defect. 
  • Hereditary progressive atrioventricular conduction defect. A new syndrome? 
  • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 
  • Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • 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 two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 
  • Imaging of tumoral calcinosis: new observations. 
  • Interferon regulatory factor-1-induced apoptosis mediated by a ligand-independent fas-associated death domain pathway in breast cancer cells. 
  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 
  • Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. 
  • Keratosis follicularis spinulosa decalvans in a family. 
  • Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Localized biphasic changes in phosphatidylinositol-4,5-bisphosphate at sites of phagocytosis. 
  • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. 
  • MDM2-HDAC1-mediated deacetylation of p53 is required for its degradation. 
  • Mechanisms for dominance: Adh heterodimer formation in heterozygotes between ENU or X-ray induced null alleles and normal alleles in Drosophila melanogaster. 
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. 
  • Molecular basis of resistance to thyroid hormone. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 
  • Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 
  • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 
  • Myosin heavy-chain mutations that disrupt Caenorhabditis elegans thick filament assembly. 
  • Myotilin is mutated in limb girdle muscular dystrophy 1A. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • Nonlinear developmental processes as sources of dominance. 
  • North Carolina macular dystrophy is assigned to chromosome 6. 
  • North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. 
  • On the evolution of genetic incompatibility systems. V. Origin of sporophytic self-incompatibility in response to overdominance in viability. 
  • On the origin of meiotic reproduction: a genetic modifier model. 
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. 
  • Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. 
  • Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. 
  • Platelet-derived growth factor receptor association with Na(+)/H(+) exchanger regulatory factor potentiates receptor activity. 
  • Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. 
  • Rab11 helps maintain apical crumbs and adherens junctions in the Drosophila embryonic ectoderm. 
  • Rapid behavioral and genomic responses to social opportunity. 
  • Recombinant adenoviral expression of dominant negative IkappaBalpha protects brain from cerebral ischemic injury. 
  • Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Role of 14-3-3-mediated p38 mitogen-activated protein kinase inhibition in cardiac myocyte survival. 
  • Roles of v-erbA homodimers and heterodimers in mediating dominant negative activity by v-erbA. 
  • Separation of meiotic and mitotic effects of claret non-disjunctional on chromosome segregation in Drosophila. 
  • Sequencing studies in human genetics: design and interpretation. 
  • Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. 
  • Single-headed myosin II acts as a dominant negative mutation in Dictyostelium. 
  • Smooth Muscle Peroxisome Proliferator-Activated Receptor γ Plays a Critical Role in Formation and Rupture of Cerebral Aneurysms in Mice In Vivo. 
  • Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. 
  • Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 
  • Stat3 activation regulates the expression of vascular endothelial growth factor and human pancreatic cancer angiogenesis and metastasis. 
  • Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. 
  • Synaptically targeted narp plays an essential role in the aggregation of AMPA receptors at excitatory synapses in cultured spinal neurons. 
  • The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. 
  • The conserved phosphoinositide 3-kinase pathway determines heart size in mice. 
  • The genetics of hybrid male sterility between the allopatric species pair Drosophila persimilis and D. pseudoobscura bogotana: dominant sterility alleles in collinear autosomal regions. 
  • The genetics of speciation by reinforcement. 
  • The suppressor gene scl1+ of Saccharomyces cerevisiae is essential for growth. 
  • Three new dominant drug resistance cassettes for gene disruption in Saccharomyces cerevisiae. 
  • Thymic epithelial defects and predisposition to autoimmune disease in BB rats. 
  • Type II collagen gene variants and inherited osteonecrosis of the femoral head. 
  • Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. 
  • Uncoupling PR-gene expression from NPR1 and bacterial resistance: Characterization of the dominant Arabidopsis cpr6 mutant. 
  • Up-regulating sphingosine 1-phosphate receptor-2 signaling impairs chemotactic, wound-healing, and morphogenetic responses in senescent endothelial cells. 
  • Use of dominant-negative HrpA mutants to dissect Hrp pilus assembly and type III secretion in Pseudomonas syringae pv. tomato. 
  • Vascular morphogenesis: tales of two syndromes. 
  • Visual pigments, blue cone monochromasy, and retinitis pigmentosa. 
  • Yeast pseudohyphal growth is regulated by GPA2, a G protein alpha homolog. 
  • [Cowden disease]. 
  • beta-Arrestin-mediated PDE4 cAMP phosphodiesterase recruitment regulates beta-adrenoceptor switching from Gs to Gi. 
  • p38gamma mitogen-activated protein kinase is a key regulator in skeletal muscle metabolic adaptation in mice. 
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  Keywords of People

  • Bejsovec, Amy, Associate Professor of Biology, Biology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology