Mutation, Missense

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

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Landstrom, Andrew Paul, Associate Professor of Pediatrics, Cell Biology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Silver, Debra Lynn, Associate Professor of Molecular Genetics and Microbiology, Duke Science & Society
  • Yan, Hai, Adjunct Professor of Pathology, Pathology