SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
about
Channelopathies from mutations in the cardiac sodium channel protein complexCellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channelsSequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.PATH-SCAN: a reporting tool for identifying clinically actionable variants.Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionalsEvaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.Return of genetic results in the familial dilated cardiomyopathy research projectBiophysics, pathophysiology, and pharmacology of ion channel gating pores.Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.Disease Modifiers of Inherited ChannelopathyA leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy
P2860
Q26824051-B2D91AA7-74BD-43EE-846E-5A0E6EF2C56AQ27008161-5946B87A-077F-4451-A35B-F9E4B89F2ECAQ28655342-42856037-95ED-4D07-BFA5-0625ABED3338Q33163638-1C954331-8251-46EC-A0D3-47EDBF2B5317Q33561696-87181A1C-5FA2-44A8-9C6D-E702029298DEQ33565907-04714012-0AB6-4DF7-A791-DE732ACA16BCQ33940611-58947789-2182-46F6-A1B6-56C6FFC1234DQ34295483-07C9E7B3-82BD-429F-A8A9-30526E6597EDQ35014373-65609EC4-36B6-4142-B17C-AB88A49FC719Q35054950-19B31C7B-FA06-413C-B1BE-0160D996D709Q35903638-34C4FAB2-8ED4-4CA0-98A8-5FD5F7AC55B4Q36903712-E61E6404-084F-45C4-A6D8-CB8480184749Q37003681-0088E93F-8F8B-4E8A-8213-731D5A0344FFQ37240660-3C0143BC-574A-4EB7-A9EC-4E2B8F2B2B25Q37274213-22E0B958-7866-4AC6-8E48-EA10B69E9F9FQ38207583-1B55514E-227F-4E44-8EC8-E769948AE569Q40402516-70097E7E-DC7E-459D-81C6-E9C3B7D619D5Q47138644-09C8515D-0D07-4AC2-8617-34FF151B8079Q55344743-2CFFC767-0182-40DE-89BF-CD597EEA9309Q57486424-12ACF890-A32D-4F09-BDD3-D06FF6C18718Q58740889-DD23A1F7-CA4D-4967-8F48-927CD0C74084
P2860
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին 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
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@ast
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@en
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@nl
type
label
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@ast
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@en
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@nl
prefLabel
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@ast
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@en
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@nl
P2093
P2860
P1476
SCN5A rare variants in familia ...... ommon splice variant Q1077del.
@en
P2093
Ana Morales
Duanxiang Li
Jianding Cheng
Jill D Siegfried
Jonathan C Makielski
Jorge Gonzalez-Quintana
Junyao Song
Nadine Norton
Ray E Hershberger
P2860
P304
P356
10.1111/J.1752-8062.2010.00249.X
P407
P577
2010-12-01T00:00:00Z