Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
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MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndromeSequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel SyndromeThe implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceDominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunitsWhole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker CaptureAlternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunctionStriking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitroEvaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Genetic Variation of SCN5A in Korean Patients with Sick Sinus SyndromeSCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathiesCardiac sodium channel regulator MOG1 regulates cardiac morphogenesis and rhythm.Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.Mouse Models of SCN5A-Related Cardiac ArrhythmiasPathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.Biophysics, pathophysiology, and pharmacology of ion channel gating pores.Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.Murine Electrophysiological Models of Cardiac Arrhythmogenesis.Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.Biological therapies targeting arrhythmias: are cells and genes the answer?Isoprenaline: a potential contributor in sick sinus syndrome--insights from a mathematical model of the rabbit sinoatrial node.Sinus Bradycardia in Carriers of the SCN5A-1795insD Mutation: Unraveling the Mechanism through Computer Simulations.A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Na1.5 Gating PoresElectrocardiogram changes and atrial arrhythmias in individuals carrying sodium channel SCN5A D1275N mutation
P2860
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P2860
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@ast
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@en
type
label
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@ast
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@en
prefLabel
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@ast
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@en
P2093
P2860
P1433
P1476
Multiple loss-of-function mech ...... familial sick sinus syndrome.
@en
P2093
Dorothy Trump
Junhong Gui
Richard P O Jones
Thomas Zimmer
P2860
P304
P356
10.1371/JOURNAL.PONE.0010985
P407
P50
P577
2010-06-07T00:00:00Z