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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review.
Peltenburg PJ 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
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia.
Yan Y et al.
Orphanet Journal of Rare Diseases, 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
Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.
Cimarosti B et al.
Stem Cell Research, 2022
The Antiarrhythmic Mechanisms of Flecainide in Catecholaminergic Polymorphic Ventricular Tachycardia.
Li Y et al.
Frontiers in Physiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 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
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.
Tung M et al.
Molecular Genetics & Genomic Medicine, 2020
Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors.
Giudicessi JR et al.
Heart Rhythm, 2019
Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.
Yan T et al.
Nature Communications, 2019
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
Competitive Sports Participation in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Center's Early Experience.
Ostby SA et al.
Jacc. Clinical Electrophysiology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Sudden cardiac arrest during sex in patients with either catecholaminergic polymorphic ventricular tachycardia or long-QT syndrome: a rare but shocking experience.
Loar RW et al.
Journal of Cardiovascular Electrophysiology, 2015
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Catecholaminergic polymorphic ventricular tachycardia.
Ylänen K et al.
European Journal of Pediatrics, 2010
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
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
Katz G et al.
Current Problems in Cardiology, 2009
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.
Jiang D et al.
Circulation Research, 2005
Localization of a disease-associated mutation site in the three-dimensional structure of the cardiac muscle ryanodine receptor.
Liu Z et al.
The Journal of Biological Chemistry, 2005
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Abnormal ryanodine receptor function in heart failure.
Yano M et al.
Pharmacology & Therapeutics, 2005
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation.
Allouis M et al.
The American Journal of Cardiology, 2005
Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.
Wehrens XH et al.
Mayo Clinic Proceedings, 2004
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
Laitinen PJ et al.
Annals of Medicine, 2004
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Laitinen PJ et al.
European Journal of Human Genetics : Ejhg, 2003
[Hereditary polymorphic ventricular tachycardia as a cause of syncopes and sudden cardiac deaths].
Swan H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2000
A patient with ventricular tachycardia due to a novel mutation of the lamin A/C gene: case presentation and mini review.
Kourgiannidis G et al.
Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0