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
40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patients_per_variant
Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.
Schneider L et al.
Journal of the American Heart Association, 2025
RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.
Abdullah NM et al.
Translational Pediatrics, 2024
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene.
Li W et al.
Stem Cell Research, 2021
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
van der Werf C et al.
Circulation. Arrhythmia and Electrophysiology, 2012
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
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Postma AV et al.
Journal of Medical Genetics, 2005
Select a paper to view details