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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 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
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.
Rautajoki KJ et al.
Acta Neuropathologica Communications, 2023
Catecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature.
Henriquez E et al.
Cureus, 2023
Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.
Leung J et al.
Life (basel, Switzerland), 2022
Structural Insight Into Ryanodine Receptor Channelopathies.
Hadiatullah H et al.
Frontiers in Pharmacology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.
Bauerová-Hlinková V et al.
Molecules (basel, Switzerland), 2020
In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia.
Pan X et al.
Circulation Research, 2018
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.
Xiong J et al.
Journal of Molecular and Cellular Cardiology, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.
Borko L et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy.
Amador FJ et al.
Journal of Molecular Biology, 2013
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
Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations.
Lobo PA et al.
Structure (london, England : 1993), 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
Tester DJ et al.
Heart Rhythm, 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
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Postma AV et al.
Journal of Medical Genetics, 2005
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Choi G et al.
Circulation, 2004
Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.
Lin Y et al.
Journal of Electrocardiology, 0