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
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Sequence and expression analysis of cardiac ryanodine receptor 2 in broilers that died from sudden death syndrome.
Basaki M et al.
Avian Pathology : Journal of the W.v.p.a, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Follow-up with exercise test of effort-induced ventricular arrhythmias linked to ryanodine receptor type 2 gene mutations.
Steriotis AK et al.
The American Journal of Cardiology, 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
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
Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor.
Liu Z et al.
The Journal of Biological Chemistry, 2005
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Postma AV et al.
Journal of Medical Genetics, 2005
Abnormal ryanodine receptor function in heart failure.
Yano M et al.
Pharmacology & Therapeutics, 2005
Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.
Wehrens XH et al.
Mayo Clinic Proceedings, 2004
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.
Bagattin A et al.
Clinical Chemistry, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Veronese C et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Veronese C et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Bagattin A et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Bagattin A et al.
Human Genetics, 2004