Associated Papers
Gene-therapy in inherited channelopathies like short-QT syndrome: a robust direction towards precision medicine.
Hamdani N et al.
European Heart Journal, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Gene Therapy for Inherited Cardiac Arrhythmias.
Turkieltaub Paredes MR et al.
Journal of Cardiovascular Translational Research, 2025
Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.
Cho MJ et al.
The American Journal of 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
Gene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications.
Karakasis P et al.
Medical Sciences (basel, Switzerland), 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Structure-activity optimization of ryanodine receptor modulators for the treatment of catecholaminergic polymorphic ventricular tachycardia.
Moore OM et al.
Heart Rhythm, 2025
Understanding CPVT pathogenic mechanisms based on mutation location within RyR2: towards personalized medicine?
Benitah JP et al.
The Journal of Physiology, 2025
Structural instability of ryanodine receptor 2 causes endoplasmic reticulum (ER) dysfunction as well as sarcoplasmic reticulum (SR) dysfunction.
Uchinoumi H et al.
Journal of Cardiology, 2025
Catecholaminergic polymorphic ventricular tachycardia-linked ryanodine receptor variants exhibit domain-specific calcium leak and calmodulin affinity properties.
Uchinoumi H et al.
The Journal of Physiology, 2025
Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.
Schneider L et al.
Journal of the American Heart Association, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.
Dewars ER et al.
Annual Review of Medicine, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
An inherited life-threatening arrhythmia model established by screening randomly mutagenized mice.
Okabe Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 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
Long-term efficacy and safety of cardiac genome editing for catecholaminergic polymorphic ventricular tachycardia.
Moore OM et al.
The Journal of Cardiovascular Aging, 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
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy.
Wren LM et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR).
Nikolaienko R et al.
Nature Communications, 2023
Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.
Qian Y 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, 2023
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.
Pérez PR et al.
Heart, Lung & Circulation, 2023
Molecular Aspects Implicated in Dantrolene Selectivity with Respect to Ryanodine Receptor Isoforms.
Gaburjakova J et al.
International Journal of Molecular Sciences, 2023
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 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
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Stutzman MJ et al.
Stem Cell Reports, 2022
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Structural analyses of human ryanodine receptor type 2 channels reveal the mechanisms for sudden cardiac death and treatment.
Miotto MC et al.
Science Advances, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
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
Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
Dulhunty AF
Frontiers in Physiology, 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
Efficacy of RyR2 inhibitor EL20 in induced pluripotent stem cell-derived cardiomyocytes from a patient with catecholaminergic polymorphic ventricular tachycardia.
Word TA et al.
Journal of Cellular and Molecular Medicine, 2021
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
James CA et al.
Circulation. Genomic and Precision Medicine, 2021