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
Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.
Luo S et al.
Asian Heart Journal, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.
Beqaj H et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Transcriptome analysis of effects of Tecrl deficiency on cardiometabolic and calcium regulation in cardiac tissue.
Lin S et al.
Open Medicine (warsaw, Poland), 2024
Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.
Takenaka M et al.
Molecular Pharmacology, 2023
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
Hou C et al.
Communications Biology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 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
Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Frontiers in Physiology, 2020
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
From insulin synthesis to secretion: Alternative splicing of type 2 ryanodine receptor gene is essential for insulin secretion in pancreatic β cells.
Okamoto H et al.
The International Journal of Biochemistry & Cell Biology, 2017
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Calcium release channel RyR2 regulates insulin release and glucose homeostasis.
Santulli G et al.
The Journal of Clinical Investigation, 2015
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
Akilzhanova A et al.
Plos One, 2014
ATP interacts with the CPVT mutation-associated central domain of the cardiac ryanodine receptor.
Blayney L et al.
Biochimica Et Biophysica Acta, 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
Loss of Nav1.5 expression and function in murine atria containing the RyR2-P2328S gain-of-function mutation.
King JH et al.
Cardiovascular Research, 2013
Dysfunctional ryanodine receptors in the heart: new insights into complex cardiovascular diseases.
Marx SO et al.
Journal of Molecular and Cellular Cardiology, 2013
Abnormal Ca(2+) homeostasis, atrial arrhythmogenesis, and sinus node dysfunction in murine hearts modeling RyR2 modification.
Zhang Y et al.
Frontiers in Physiology, 2013
Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia.
Shan J et al.
Circulation Research, 2012
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
A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
Meli AC et al.
Circulation Research, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
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
Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice.
Lehnart SE et al.
The Journal of Clinical Investigation, 2008
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
Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.
Creighton W et al.
The Journal of Molecular Diagnostics : Jmd, 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