Associated Papers
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Deadly emotional argument: Sudden cardiac death in catecholaminergic polymorphic ventricular tachycardia (CPVT).
Violano M et al.
International Journal of Cardiology. Heart & Vasculature, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
Zhong X et al.
Bioscience Reports, 2021
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Paludan-Müller C et al.
Clinical Genetics, 2017
The N-Terminal Region of the Ryanodine Receptor Affects Channel Activation.
Faltinova A et al.
Frontiers in Physiology, 2017
Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.
Borko L et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Heterogeneity of ryanodine receptor dysfunction in a mouse model of catecholaminergic polymorphic ventricular tachycardia.
Loaiza R et al.
Circulation Research, 2013
Prophylactic left thoracic sympathectomy to prevent electrical storms in CPVT patients needing ICD placement.
Moray A et al.
Heart, Lung & Circulation, 2011
Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.
Tester DJ et al.
Mayo Clinic Proceedings, 2011
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
Medeiros-Domingo A et al.
Journal of the American College of Cardiology, 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.
Creighton W et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.
Jiang D et al.
Circulation Research, 2005
Pathogenesis of unexplained drowning: new insights from a molecular autopsy.
Tester DJ et al.
Mayo Clinic Proceedings, 2005
Drug-induced long QT syndrome.
Letsas KP et al.
Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0