A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
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The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathyThe molecular autopsy: should the evaluation continue after the funeral?The calsequestrin mutation CASQ2D307H does not affect protein stability and targeting to the junctional sarcoplasmic reticulum but compromises its dynamic regulation of calcium bufferingPotential role of cardiac calsequestrin in the lethal arrhythmic effects of cocaineThe role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).Alpha blockade potentiates CPVT therapy in calsequestrin-mutant mice.Subcellular Ca2+ signaling in the heart: the role of ryanodine receptor sensitivity.Impact of genetics on the clinical management of channelopathies.Histidine-rich calcium binding protein: the new regulator of sarcoplasmic reticulum calcium cycling.Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.Chain-reaction Ca(2+) signaling in the heart.Genes, calcium and modifying factors in hypertrophic cardiomyopathy.The link between abnormal calcium handling and electrical instability in acquired long QT syndrome--Does calcium precipitate arrhythmic storms?Exercise training improves cardiac function and attenuates arrhythmia in CPVT miceA mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice.Advances in the prevention of sudden cardiac death in the young.Cardiac calsequestrin: quest inside the SR.Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant ventricular arrhythmia syndromes besides congenital long-QT syndrome.Themes and variations in ER/SR calcium release channels: structure and function.Cardiac channel molecular autopsy for sudden unexpected death in epilepsy.Catecholaminergic polymorphic ventricular tachycardia, an update.
P2860
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P2860
A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@ast
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@en
type
label
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@ast
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@en
prefLabel
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@ast
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@en
P2093
P1476
A missense mutation in the CAS ...... rphic ventricular tachycardia.
@en
P2093
Hadas Lahat
Michael Eldar
P304
P356
10.1016/S1050-1738(03)00025-2
P577
2003-05-01T00:00:00Z