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
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
Badura K et al.
International Journal of Molecular Sciences, 2024
Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes.
Toth N et al.
International Journal of Molecular Sciences, 2023
How does flecainide impact RyR2 channel function?
Salvage SC et al.
The Journal of General Physiology, 2022
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
Hirose S et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.
Li Y et al.
Circulation. Arrhythmia and Electrophysiology, 2021
RyR2 disease mutations at the C-terminal domain intersubunit interface alter closed-state stability and channel activation.
Guo W et al.
The Journal of Biological Chemistry, 2021
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
Zhong X et al.
Bioscience Reports, 2021
A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Touat-Hamici Z et al.
Scientific Reports, 2021
Cardiac ryanodine receptor calcium release deficiency syndrome.
Sun B et al.
Science Translational Medicine, 2021
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ et al.
Jci Insight, 2020
[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].
Kurebayashi N et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2020
BASIC AND CLINICAL INSIGHTS IN CATECHOLAMINERGIC (FAMILIAL) POLYMORPHIC VENTRICULAR TACHYCARDIA.
Márquez MF et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2019
A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia.
Fujii Y et al.
Heart Rhythm, 2017
Suppression-of-function mutations in the cardiac ryanodine receptor: Emerging evidence for a novel arrhythmia syndrome?
Roston TM et al.
Heart Rhythm, 2017
[Ventricular paroxysmal tachycardia (VPT) in a child with AAR; the familial implications based on this clinical case].
Tirnoveanu G et al.
Revista De Pediatrie, Obstetrica Si Ginecologie. Pediatria, 0