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
Loss-of-function W4645R mutation in the RyR2-caffeine binding site: implications for synchrony and arrhythmogenesis.
Fernández-Morales JC et al.
Cell Calcium, 2024
Molecular Dynamics Simulations of the Cardiac Ryanodine Receptor Type 2 (RyR2) Gating Mechanism.
Greene D et al.
The Journal of Physical Chemistry. B, 2022
Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2.
Kurebayashi N et al.
The Journal of General Physiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
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
Genetic characterization of familial CPVT after 30 years.
Beery TA et al.
Biological Research for Nursing, 2009
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
Hayashi M et al.
Circulation, 2009
Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.
Thomas NL et al.
Biochemical Society Transactions, 2007
Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies.
George CH et al.
Journal of Molecular and Cellular Cardiology, 2007
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