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
Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.
Luo S et al.
Asian Heart Journal, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
Xu B et al.
Cardiology in the Young, 2024
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
Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.
Zhang Y et al.
Frontiers in Molecular Biosciences, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia.
Li S et al.
Clinical and Experimental Pharmacology & Physiology, 2023
The Role of RYR2 in Atrial Fibrillation.
Boehm BM et al.
Case Reports in Cardiology, 2023
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.
Mazzanti A et al.
Jama Cardiology, 2022
Therapeutic Approaches of Ryanodine Receptor-Associated Heart Diseases.
Szentandrássy N et al.
International Journal of Molecular Sciences, 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
Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation.
Yin L et al.
Circulation Research, 2021
Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function.
Seidel M et al.
Cardiovascular Research, 2021
Intracellular calcium leak in heart failure and atrial fibrillation: a unifying mechanism and therapeutic target.
Dridi H et al.
Nature Reviews. Cardiology, 2020
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
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
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 N-Terminal Region of the Ryanodine Receptor Affects Channel Activation.
Faltinova A et al.
Frontiers in Physiology, 2017
The genetic background of arrhythmogenic right ventricular cardiomyopathy.
Ohno S
Journal of Arrhythmia, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 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
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
Structural and functional interactions within ryanodine receptor.
Seidel M et al.
Biochemical Society Transactions, 2015
Dantrolene rescues aberrant N-terminus intersubunit interactions in mutant pro-arrhythmic cardiac ryanodine receptors.
Seidel M et al.
Cardiovascular Research, 2015
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.
Shigemizu D et al.
Plos One, 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
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
The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations.
Kimlicka L et al.
Structure (london, England : 1993), 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
Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice.
Bround MJ et al.
Cardiovascular Research, 2012
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
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.
Tang Y et al.
Circulation Research, 2012
A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
Meli AC et al.
Circulation Research, 2011
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