Associated Papers
Compromised repolarization reserve in a murine model of catecholaminergic polymorphic ventricular tachycardia caused by RyR2-R420Q mutation.
Zissimopoulos S et al.
Journal of Molecular and Cellular Cardiology, 2025
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
Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.
Hsu GC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 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
RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.
Abdullah NM et al.
Translational Pediatrics, 2024
Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.
Zhang Y et al.
Frontiers in Molecular Biosciences, 2024
Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.
Takenaka M et al.
Molecular Pharmacology, 2023
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Ni M et al.
Circulation Research, 2023
Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.
Shimamoto K et al.
Heart (british Cardiac Society), 2022
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.
Mazzanti A et al.
Jama Cardiology, 2022
Structural Insight Into Ryanodine Receptor Channelopathies.
Hadiatullah H et al.
Frontiers in Pharmacology, 2022
Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.
Zhang Y et al.
Frontiers in Physiology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Peripartum management of a patient with catecholaminergic polymorphic ventricular tachycardia.
Jimenez E et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2021
Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S et al.
Plos One, 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
RYR2 p.R169L mutation and left ventricular hypertrophy in a child with emotion-triggered sudden death.
Kohli U et al.
Cardiology in the Young, 2020
Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation.
Nozaki Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].
Kurebayashi N et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia.
Pan X et al.
Circulation Research, 2018
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.
Miyata K et al.
Internal Medicine (tokyo, Japan), 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
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.
Kapplinger JD et al.
Circulation. Genomic and Precision Medicine, 2018
Investigating the inter-subunit/subdomain interactions and motions relevant to disease mutations in the N-terminal domain of ryanodine receptors by molecular dynamics simulation.
Zheng W et al.
Proteins, 2017
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S 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
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
Electrical storm in children.
Clausen H et al.
Pacing and Clinical Electrophysiology : Pace, 2013
Just sinus bradycardia or something more serious?
Egan KR et al.
Case Reports in Pediatrics, 2013
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Kawamura M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop.
Amador FJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia.
Hsueh CH et al.
International Journal of Cardiology, 2006
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
Transient ventricular bigeminy during emergence from general anesthesia in a pediatric patient with catecholaminergic polymorphic ventricular tachycardia.
Matsumura T et al.
Journal of Electrocardiology, 0