Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes - Test2 - elhamkhani - TriplyDB

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

http://www.wikidata.org/entity/Q27030767

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A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation Genetics of channelopathies associated with sudden cardiac death Ventricular repolarization markers for predicting malignant arrhythmias in clinical practice Recent advances in genetic testing and counseling for inherited arrhythmias Genetics of Brugada syndrome On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases The role of ion channelopathies in sudden cardiac death: implications for clinical practice.Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.'Particle genetics': treating every cell as unique.Modeling Inherited Arrhythmia Disorders Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.Genetic analysis, in silico prediction, and family segregation in long QT syndrome.AKAP9 is a genetic modifier of congenital long-QT syndrome type 1 hERG 1b is critical for human cardiac repolarization Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.Identification of cis-suppression of human disease mutations by comparative genomics.Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation Cardiac ion channelopathies and the sudden infant death syndrome Ventricular arrhythmias in Rhodesian Ridgebacks with a family history of sudden death and results of a pedigree analysis for potential inheritance patterns.Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genotype- and phenotype-guided management of congenital long QT syndrome.Genetic biomarkers in Brugada syndrome.From genes to health - challenges and opportunities.Cardiac potassium channel subtypes: new roles in repolarization and arrhythmia.Brugada syndrome: clinical and genetic findings.From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.Allelic Complexity in Long QT Syndrome: A Family-Case Study.Genetic testing for inheritable cardiac channelopathies.Murine Electrophysiological Models of Cardiac Arrhythmogenesis.Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene.A helical segment makes potassium channels go-go.Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

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P2860

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

http://www.wikidata.org/entity/Q27030767

description

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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

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Determinants of incomplete pen ...... e cardiac arrhythmia syndromes

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Determinants of incomplete pen ...... e cardiac arrhythmia syndromes

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Determinants of incomplete pen ...... e cardiac arrhythmia syndromes

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Determinants of incomplete pen ...... e cardiac arrhythmia syndromes

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J.TRSL.2012.08.005

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Translational Research

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Determinants of incomplete pen ...... e cardiac arrhythmia syndromes

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John R. Giudicessi

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Michael J. Ackerman

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P2860

A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor

A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk

Clinical and genetic determinants of torsade de pointes risk

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers

Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis

Natural selection on human microRNA binding sites inferred from SNP data.

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22995932

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heart arrhythmia

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