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Subject Areas on Research
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2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations.
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MYD88
L265P Mutation in Lymphoid Malignancies.
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A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.
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A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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A Systems Approach Dissociates Fructose-Induced Liver Triglyceride from Hypertriglyceridemia and Hyperinsulinemia in Male Mice.
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A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
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A laboratory-adapted HCV JFH-1 strain is sensitive to neutralization and can gradually escape under the selection pressure of neutralizing human plasma.
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
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A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.
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A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
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A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
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A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.
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A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families.
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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
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A single acidic residue can guide binding site selection but does not govern QacR cationic-drug affinity.
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A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.
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ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype.
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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
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ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.
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ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.
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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.
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APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases.
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ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations.
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Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
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Adult-Onset Ligneous Conjunctivitis with Detection of a Novel Plasminogen Gene Mutation and Anti-Plasminogen IgA Antibody: A Clinicopathologic Study and Review of Literature.
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Altered ligand binding by insulin-like growth factor II/mannose 6-phosphate receptors bearing missense mutations in human cancers.
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An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
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An integrated genomic analysis of human glioblastoma multiforme.
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An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
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Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
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Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.
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Analysis of the E399D mutation in SLC11A2.
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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
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Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic β cell insufficiency.
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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
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Association between two functional polymorphisms of insulin-like growth factor binding protein 3 and colorectal cancer risk in a Chinese population.
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Association of CARD8 Activating Polymorphism With Bone Erosion in Cholesteatoma Patients.
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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
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Atypical features of familial hemophagocytic lymphohistiocytosis.
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Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
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Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
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Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
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Axon guidance pathways served as common targets for human speech/language evolution and related disorders.
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Benign nodal nevi frequently harbor the activating V600E BRAF mutation.
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Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).
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CENTRAL RETINAL VEIN OCCLUSION IN GATA2 DEFICIENCY.
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COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis.
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COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
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CUBN is a gene locus for albuminuria.
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Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.
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Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.
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Cardioprotective role of S-nitrosylated hemoglobin from rbc.
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Case report: aplasia of the lacrimal and major salivary glands (ALSG).
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Casein kinase I: another cog in the circadian clockworks.
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Causal Genetic Variants in Stillbirth.
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Cholinergic augmentation of insulin release requires ankyrin-B.
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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
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Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
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Cloning of the Arabidopsis clock gene TOC1, an autoregulatory response regulator homolog
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
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Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
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Comparative analysis of the genome sequences and replication profiles of chikungunya virus isolates within the East, Central and South African (ECSA) lineage.
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Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
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Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.
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Contributions of Asn2198, Met2199, and Phe2200 in the factor VIII C2 domain to cofactor activity, phospholipid-binding, and von Willebrand factor-binding.
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Control of Heterologous Simian Immunodeficiency Virus SIVsmE660 Infection by DNA and Protein Coimmunization Regimens Combined with Different Toll-Like-Receptor-4-Based Adjuvants in Macaques.
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Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly.
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant.
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Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.
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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
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Defining a two-pronged structural model for PB1 (Phox/Bem1p) domain interaction in plant auxin responses.
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Dependence of leucine-rich repeat kinase 2 (LRRK2) kinase activity on dimerization.
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Detection of a new pyrethroid resistance mutation (V410L) in the sodium channel of Aedes aegypti: a potential challenge for mosquito control.
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Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
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Disruption of ligand binding to the insulin-like growth factor II/mannose 6-phosphate receptor by cancer-associated missense mutations.
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Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.
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Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
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Dlg5 regulates dendritic spine formation and synaptogenesis by controlling subcellular N-cadherin localization.
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Dominant ER Stress-Inducing WFS1
Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
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Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures.
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
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Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
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Effect of a fluvalinate-resistance-associated sodium channel mutation from varroa mites on cockroach sodium channel sensitivity to fluvalinate, a pyrethroid insecticide.
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Engineering oxidative stability in human hemoglobin based on the Hb providence (βK82D) mutation and genetic cross-linking.
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Envelope residue 375 substitutions in simian-human immunodeficiency viruses enhance CD4 binding and replication in rhesus macaques.
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Estrogen receptor alpha (ESR1) mutant A908G is not a common feature in benign and malignant proliferations of the breast.
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Evaluating The Role Of Nitric Oxide Synthase In Oncogenic Ras-Driven Tumorigenesis.
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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
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Evidence for involvement of GNB1L in autism.
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Evidence of viral adaptation to HLA class I-restricted immune pressure in chronic hepatitis C virus infection.
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Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
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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.
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Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.
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Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
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Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.
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FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
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FGF12 is a candidate Brugada syndrome locus.
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FabH mutations confer resistance to FabF-directed antibiotics in Staphylococcus aureus.
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Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.
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Fibroblast growth factor-23-mediated inhibition of renal phosphate transport in mice requires sodium-hydrogen exchanger regulatory factor-1 (NHERF-1) and synergizes with parathyroid hormone.
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Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
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Flipping of the ribosomal A-site adenines provides a basis for tRNA selection.
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Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
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Genetic analysis demonstrates a direct link between rho signaling and nonmuscle myosin function during Drosophila morphogenesis.
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Genetic analysis of daf-18/PTEN missense mutants for starvation resistance and developmental regulation during Caenorhabditis elegans L1 arrest.
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Genetic analysis of the beta-tubulin gene, TUBB, in non-small-cell lung cancer.
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
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Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.
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Genetic convergence of rare lymphomas.
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Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
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Genetic variation associated with circulating monocyte count in the eMERGE Network.
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Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
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Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia.
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Genome-wide high resolution DNA profiling of hairy cell leukaemia.
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Genotype-phenotype correlation in MYH9-related thrombocytopenia.
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Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
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Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.
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Germline genetic variants in men with prostate cancer and one or more additional cancers.
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Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
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Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
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HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
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HIV type 1 from a patient with baseline resistance to CCR5 antagonists uses drug-bound receptor for entry.
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HIV-1 resistance to CCR5 antagonists associated with highly efficient use of CCR5 and altered tropism on primary CD4+ T cells.
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HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
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HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
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Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin.
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
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Histone deacetylase 6 (HDAC6) promotes the pro-survival activity of 14-3-3ζ via deacetylation of lysines within the 14-3-3ζ binding pocket.
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Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
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Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation.
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Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
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Identification of a binding motif in the S5 helix that confers cholesterol sensitivity to the TRPV1 ion channel.
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Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.
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Identification of a novel mutation (C321X) in HJV.
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Identification of cis-suppression of human disease mutations by comparative genomics.
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Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels.
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Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
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In vitro polymerization of tau protein monitored by laser light scattering: method and application to the study of FTDP-17 mutants.
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Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.
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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.
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Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
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Inhibition of calcium/calmodulin kinase II alpha subunit expression results in epileptiform activity in cultured hippocampal neurons.
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Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
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Interactions Between Antenatal Sulfadoxine-Pyrimethamine, Drug-Resistant Plasmodium falciparum Parasites, and Delivery Outcomes in Malawi.
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Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
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Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
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Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
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Isolation and characterization of cul1-7, a recessive allele of CULLIN1 that disrupts SCF function at the C terminus of CUL1 in Arabidopsis thaliana.
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Isoprenylcysteine carboxylmethyltransferase is critical for malignant transformation and tumor maintenance by all RAS isoforms.
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Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
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Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
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Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
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Localization and structure of the ankyrin-binding site on beta2-spectrin.
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Long antibody HCDR3s from HIV-naïve donors presented on a PG9 neutralizing antibody background mediate HIV neutralization.
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Low prevalence of Pneumocystis pneumonia (PCP) but high prevalence of pneumocystis dihydropteroate synthase (dhps) gene mutations in HIV-infected persons in Uganda.
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MYH9 E1841K Mutation Augments Proteinuria and Podocyte Injury and Migration.
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Marrow cell transplantation for infantile hypophosphatasia.
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Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.
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Metabolic Anthropology: Selection Pressure Shapes Fatty Acid Metabolism in Greenlandic Inuit Populations.
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Metabolomic and genetic associations with insulin resistance in pregnancy.
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Mineralocorticoid receptor Iso/Val (rs5522) genotype moderates the association between previous childhood emotional neglect and amygdala reactivity.
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
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Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
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Mitogen-activated protein kinase (MAPK) hyperactivation and enhanced NRAS expression drive acquired vemurafenib resistance in V600E BRAF melanoma cells.
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Modeling RAS phenotype in colorectal cancer uncovers novel molecular traits of RAS dependency and improves prediction of response to targeted agents in patients.
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Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
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Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
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Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti.
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Molecular interactions and residues involved in force generation in the T4 viral DNA packaging motor.
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Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.
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Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.
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Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
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Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
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Munc13-1 is required for presynaptic long-term potentiation.
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Mutant IDH is sufficient to initiate enchondromatosis in mice.
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
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Mutation of bcl-x gene in non-Hodgkin's lymphoma.
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Mutation of conserved histidines alters tertiary structure and nanomechanics of consensus ankyrin repeats.
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
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Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
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Mutational analysis of the tyrosine phosphatome in colorectal cancers.
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Mutational landscape of candidate genes in familial prostate cancer.
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Mutational profile and prognostic significance of TP53 in diffuse large B-cell lymphoma patients treated with R-CHOP: report from an International DLBCL Rituximab-CHOP Consortium Program Study.
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Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
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Mutations in CIC and FUBP1 contribute to human oligodendroglioma.
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Mutations in PBP2 from ceftriaxone-resistant Neisseria gonorrhoeae alter the dynamics of the β3-β4 loop to favor a low-affinity drug-binding state.
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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
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Mutations of the BRAF gene in human cancer.
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Myotilin is mutated in limb girdle muscular dystrophy 1A.
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Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
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Non-lethal congenital hypotonia due to glycogen storage disease type IV.
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Nonfunctional Missense Mutants in Two Well Characterized Cytosolic Enzymes Reveal Important Information About Protein Structure and Function.
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Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
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Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas.
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Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
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Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
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Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.
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Oncogenic CARD11 mutations in human diffuse large B cell lymphoma.
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Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
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PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
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PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
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Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
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Pathogenic Germline Variants in 10,389 Adult Cancers.
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Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
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Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes.
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
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Platelet-derived growth factor (PDGF) regulates Slingshot phosphatase activity via Nox1-dependent auto-dephosphorylation of serine 834 in vascular smooth muscle cells.
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
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Positive and negative phosphorylation regulates RIP1- and RIP3-induced programmed necrosis.
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Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
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Predicting the pathogenicity of RPE65 mutations.
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Preexisting compensatory amino acids compromise fitness costs of a HIV-1 T cell escape mutation.
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Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.
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Primary immunodeficiency mutation databases.
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Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
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Pseudometabolic presentation of dystrophinopathy due to a missense mutation.
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RAS signaling promotes resistance to JAK inhibitors by suppressing BAD-mediated apoptosis.
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
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RNASEL mutations in hereditary prostate cancer.
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Rare coding variants and X-linked loci associated with age at menarche.
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Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
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Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
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Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
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Rational Manual and Automated Scoring Thresholds for the Immunohistochemical Detection of TP53 Missense Mutations in Human Breast Carcinomas.
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Recruitment of cyclin T1/P-TEFb to an HIV type 1 long terminal repeat promoter proximal RNA target is both necessary and sufficient for full activation of transcription.
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Recurrent GNAQ mutation encoding T96S in natural killer/T cell lymphoma.
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Recurrent signature patterns in HIV-1 B clade envelope glycoproteins associated with either early or chronic infections.
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Reply to Harrington et al.
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Residues of heat-labile enterotoxin involved in bacterial cell surface binding.
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Resistance mutations at the lipid substrate binding site of Plasmodium falciparum protein farnesyltransferase.
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Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.
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Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
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Reversion and T cell escape mutations compensate the fitness loss of a CD8+ T cell escape mutant in their cognate transmitted/founder virus.
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RhoA GTPase-induced ocular hypertension in a rodent model is associated with increased fibrogenic activity in the trabecular meshwork.
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Role of HFE gene mutations in liver diseases other than hereditary hemochromatosis.
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Role of TGF-β receptor III localization in polarity and breast cancer progression.
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SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
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SETD2 histone modifier loss in aggressive GI stromal tumours.
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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
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Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men.
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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
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Simultaneous Detection of Major Drug Resistance Mutations of HIV-1 Subtype B Viruses from Dried Blood Spot Specimens by Multiplex Allele-Specific Assay.
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Simultaneous detection of major drug resistance mutations in the protease and reverse transcriptase genes for HIV-1 subtype C by use of a multiplex allele-specific assay.
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Site-specific polyubiquitination differentially regulates parathyroid hormone receptor-initiated MAPK signaling and cell proliferation.
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Social support in older individuals: the role of the BDNF Val66Met polymorphism.
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Specificity of the type II secretion systems of enterotoxigenic Escherichia coli and Vibrio cholerae for heat-labile enterotoxin and cholera toxin.
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Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
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Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
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Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia.
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Structural studies and protein engineering of inositol phosphate multikinase.
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Substitutions in the domain III voltage-sensing module enhance the sensitivity of an insect sodium channel to a scorpion beta-toxin.
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Suppression of DNA-damage checkpoint signaling by Rsk-mediated phosphorylation of Mre11.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
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TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
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The A581G Mutation in the Gene Encoding Plasmodium falciparum Dihydropteroate Synthetase Reduces the Effectiveness of Sulfadoxine-Pyrimethamine Preventive Therapy in Malawian Pregnant Women.
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The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
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The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.
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The RGS protein Crg2 regulates both pheromone and cAMP signalling in Cryptococcus neoformans.
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The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample.
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The deubiquitinase ubiquitin-specific protease 20 is a positive modulator of myocardial β1-adrenergic receptor expression and signaling.
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The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
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The molecular mechanisms of allosteric mutations impairing MepR repressor function in multidrug-resistant strains of Staphylococcus aureus.
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The phage T4 protein UvsW drives Holliday junction branch migration.
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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
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The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.
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The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression.
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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.
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Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers.
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Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
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Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
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Using comparative genomic data to test for fast-X evolution.
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Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
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Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
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myotilin Mutation found in second pedigree with LGMD1A.
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α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.
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Keywords of People
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Bennett, Vann,
George Barth Geller Distinguished Professor of Molecular Biology,
Duke Cancer Institute
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Landstrom, Andrew Paul,
Associate Professor of Pediatrics,
Cell Biology
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McLendon, Roger Edwin,
Professor of Pathology,
Pathology
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Pitt, Geoffrey Stuart,
Adjunct Professor in the Department of Medicine,
Medicine, Cardiology
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Silver, Debra Lynn,
Associate Professor of Molecular Genetics and Microbiology,
Duke Science & Society
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Yan, Hai,
Adjunct Professor of Pathology,
Pathology