Associated Papers
Ryanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine.
Sharma V
World Journal of Cardiology, 2026
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
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
James CA et al.
Circulation. Genomic and Precision Medicine, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Intracellular calcium leak in heart failure and atrial fibrillation: a unifying mechanism and therapeutic target.
Dridi H et al.
Nature Reviews. Cardiology, 2020
Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease.
Gao S et al.
International Journal of Molecular Sciences, 2020
Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.
Roston TM et al.
Clinical Medicine Insights. Cardiology, 2017
The genetic background of arrhythmogenic right ventricular cardiomyopathy.
Ohno S
Journal of Arrhythmia, 2016
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.
Campbell MJ et al.
American Journal of Medical Genetics. Part A, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
Akilzhanova A et al.
Plos One, 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
S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.
Zhabyeyev P et al.
The Canadian Journal of Cardiology, 2013
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.
Tang Y et al.
Circulation Research, 2012
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Priori SG et al.
Circulation Research, 2011
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.
Thomas NL et al.
Febs Letters, 2010
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
Ryanodine receptor-mediated arrhythmias and sudden cardiac death.
Blayney LM et al.
Pharmacology & Therapeutics, 2009
Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice.
Liu N et al.
Journal of Molecular and Cellular Cardiology, 2009
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
Katz G et al.
Current Problems in Cardiology, 2009
Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts.
Goddard CA et al.
Acta Physiologica (oxford, England), 2008
Endoplasmic reticulum Ca2+ measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced Ca2+ release.
Jones PP et al.
The Biochemical Journal, 2008
Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin.
Liu N et al.
Cardiovascular Research, 2008
Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.
Thomas NL et al.
Biochemical Society Transactions, 2007
Localization of an NH(2)-terminal disease-causing mutation hot spot to the "clamp" region in the three-dimensional structure of the cardiac ryanodine receptor.
Wang R et al.
The Journal of Biological Chemistry, 2007
The molecular basis of catecholaminergic polymorphic ventricular tachycardia: what are the different hypotheses regarding mechanisms?
Wehrens XH
Heart Rhythm, 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
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end?
Jóna I et al.
Cardiovascular Research, 2006
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.
Rampazzo A
Heart International, 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
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
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.
Wehrens XH et al.
Mayo Clinic Proceedings, 2004
Functional heterogeneity of ryanodine receptor mutations associated with sudden cardiac death.
Thomas NL et al.
Cardiovascular Research, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Bagattin A et al.
Human Genetics, 2004
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
Laitinen PJ et al.
Annals of Medicine, 2004
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Laitinen PJ et al.
European Journal of Human Genetics : Ejhg, 2003
The cardiac ryanodine receptor (calcium release channel): emerging role in heart failure and arrhythmia pathogenesis.
Scoote M et al.
Cardiovascular Research, 2002
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.
Bauce B et al.
Journal of the American College of Cardiology, 2002
Clinical implications of cardiac ryanodine receptor/calcium release channel mutations linked to sudden cardiac death.
Marks AR
Circulation, 2002
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia.
Marks AR et al.
Journal of Cellular Physiology, 2002
[Hereditary polymorphic ventricular tachycardia as a cause of syncopes and sudden cardiac deaths].
Swan H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2000