Mutation, Missense Concept

subject area of

• CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency  Journal Articles
• A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait  Journal Articles
• A Novel Sickle Hemoglobin: Hemoglobin S-South End  Journal Articles
• A Systematic Review and Meta-Analysis of the Diagnostic Performance of BRAF V600E Immunohistochemistry in Thyroid Histopathology  Journal Articles
• A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease  Journal Articles
• A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia  Journal Articles
• A novel candidate region for ALS on chromosome 14q11.2  Journal Articles
• ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis  Journal Articles
• Accelerated Evolutionary Rate of Housekeeping Genes in Tunicates  Journal Articles
• Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors  Journal Articles
• An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia  Journal Articles
• Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations  Journal Articles
• Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8  Journal Articles
• Characterization of a new cancer-associated mutant of p53 with a missense mutation (K351N) in the tetramerization domain  Journal Articles
• Clonal Expansion and Emergence of Environmental Multiple-Triazole-Resistant Aspergillus fumigatus Strains Carrying the TR34/L98H Mutations in the cyp51A Gene in India  Journal Articles
• Comparative Natural History of Visual Function From Patients With Biallelic Variants inBBS1andBBS10  Journal Articles
• Comparison of mammalian and bacterial expression library screening to detect recombinant alpha-1 proteinase inhibitor variants with enhanced thrombin inhibitory capacity☆  Journal Articles
• Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner  Journal Articles
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Journal Articles
• DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants  Journal Articles
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Journal Articles
• De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay  Journal Articles
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome  Journal Articles
• De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay  Journal Articles
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Journal Articles
• Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?  Journal Articles
• Estrogen Receptor-α and Endothelial Nitric Oxide Synthase Nuclear Complex Regulates Transcription of Human Telomerase  Journal Articles
• Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the KCND2 Gene as a Cause of J-Wave Syndrome Associated With Sudden Cardiac Death  Journal Articles
• Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA  Journal Articles
• Exome sequencing of Saudi Arabian patients with ADPKD  Journal Articles
• Familial partial lipodystrophy presenting as metabolic syndrome  Journal Articles
• Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome  Journal Articles
• Free energy landscape remodeling of the cardiac pacemaker channel explains the molecular basis of familial sinus bradycardia  Journal Articles
• Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation  Journal Articles
• Gene symbol: ARSA.  Journal Articles
• HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome  Journal Articles
• Hb A₂Hong Kong – A Novel δ-Globin Variant in a Chinese Family Masks the Diagnosis of β-Thalassemia Trait  Journal Articles
• Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant  Journal Articles
• Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia  Journal Articles
• Hemoglobin shady grove: A novel fetal methemoglobin variant  Journal Articles
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Journal Articles
• Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred  Journal Articles
• Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy  Journal Articles
• Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]  Journal Articles
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Journal Articles
• Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease  Journal Articles
• Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)  Journal Articles
• In silico analysis of TRPM4 variants of unknown clinical significance  Journal Articles
• Incorporation of Factor Va into Prothrombinase Is Required for Coordinated Cleavage of Prothrombin by Factor Xa  Journal Articles
• Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations  Journal Articles
• Inhibition of Metabotropic Glutamate Receptor Signaling by the Huntingtin-binding Protein Optineurin  Journal Articles
• Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family  Journal Articles
• Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers  Journal Articles
• Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1)  Journal Articles
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy  Journal Articles
• Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Journal Articles
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Journal Articles
• Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia  Journal Articles
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Journal Articles
• Mutations in transmembrane proteins: diseases, evolutionary insights, prediction and comparison with globular proteins  Journal Articles
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Journal Articles
• NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant inNCF2that results in reduced binding to RAC2  Journal Articles
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Journal Articles
• Normal Hb A₂β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A_2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)  Journal Articles
• Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients  Journal Articles
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Journal Articles
• Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]  Journal Articles
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Journal Articles
• Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)  Journal Articles
• PON1 Q192R genetic variant and response to clopidogrel and prasugrel: pharmacokinetics, pharmacodynamics, and a meta-analysis of clinical outcomes  Journal Articles
• Pathogenic Germline Variants in 10,389 Adult Cancers  Journal Articles
• Phosphorylation of Ser312 contributes to tumor suppression by p53 in vivo  Journal Articles
• Pregnancy in a healthy woman with untreated citrullinemia  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes  Journal Articles
• Real-Time RT-PCR Allelic Discrimination Assay for Detection of N501Y Mutation in the Spike Protein of SARS-CoV-2 Associated with B.1.1.7 Variant of Concern  Journal Articles
• Renal venous thrombosis in a newborn with prothrombotic risk factors  Journal Articles
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Journal Articles
• Resequencing Genomic DNA of Patients With Severe Hypertriglyceridemia (MIM 144650)  Journal Articles
• Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery  Journal Articles
• Short-Course Therapy of Gemifloxacin Effective Against Pneumococcal Pneumonia in Mice  Journal Articles
• Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation  Journal Articles
• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features  Journal Articles
• Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis  Journal Articles
• Structure and Function of APH(4)-Ia, a Hygromycin B Resistance Enzyme  Journal Articles
• Synaptic, transcriptional and chromatin genes disrupted in autism  Journal Articles
• TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis  Journal Articles
• The Cancer-associated K351N Mutation Affects the Ubiquitination and the Translocation to Mitochondria of p53 Protein  Journal Articles
• The Pattern of Amino Acid Replacements in α/β-Barrels  Journal Articles
• The Roles of Selected Arginine and Lysine Residues of TAFI (Pro-CPU) in Its Activation to TAFIa by the Thrombin-Thrombomodulin Complex  Journal Articles
• The appended tail region of heparin cofactor II and additional reactive centre loop mutations combine to increase the reactivity and specificity of α1-proteinase inhibitor M358R for thrombin  Journal Articles
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Journal Articles
• The role of TWIST as a regulator in giant cell tumor of bone  Journal Articles
• Type IV Pilus Alignment Subcomplex Proteins PilN and PilO Form Homo- and Heterodimers in Vivo  Journal Articles
• Universal Newborn Screening for Hb H Disease in California  Journal Articles
• VARIABLE EXPRESSION OF MRP2 (ABCC2) IN HUMAN PLACENTA: INFLUENCE OF GESTATIONAL AGE AND CELLULAR DIFFERENTIATION  Journal Articles
• Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity  Journal Articles
• WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations  Journal Articles
• β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis  Journal Articles