Associated Papers
CPVT1 point mutations in RyR2 S5 and S6 segments and their Ca2+ signaling consequence.
Zhang XH et al.
Cell Calcium, 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
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
Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart.
Paudel R et al.
Current Issues in Molecular Biology, 2024
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
Ni M et al.
Jama, 2024
Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
Xu B et al.
Cardiology in the Young, 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
Human Genetics of Cardiac Arrhythmias.
Schulze-Bahr E et al.
Advances in Experimental Medicine and Biology, 2024
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Ni M et al.
Circulation Research, 2023
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
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E et al.
Biomedicines, 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
Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.
Li Y et al.
Circulation. Arrhythmia and Electrophysiology, 2021
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
Zhong X et al.
Bioscience Reports, 2021
Cardiac ryanodine receptor calcium release deficiency syndrome.
Sun B et al.
Science Translational Medicine, 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
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ et al.
Jci Insight, 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
IP3R-Mediated Compensatory Mechanism for Calcium Handling in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes With Cardiac Ryanodine Receptor Deficiency.
Luo X et al.
Frontiers in Cell and Developmental Biology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia.
Franciosi S et al.
Journal of Cardiovascular Electrophysiology, 2019
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
Suppression-of-function mutations in the cardiac ryanodine receptor: Emerging evidence for a novel arrhythmia syndrome?
Roston TM et al.
Heart Rhythm, 2017
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.
Roston TM et al.
Journal of Electrocardiology, 0
Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.
Siu A et al.
Annals of Pediatric Cardiology, 0
[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