Associated Papers
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 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
[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene].
Komissarova SM et al.
Kardiologiia, 2025
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
Coll M et al.
International Journal of Molecular Sciences, 2022
The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.
Sibbles ET et al.
Biophysical Reviews, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.
Titus EW et al.
Nature Structural & Molecular Biology, 2020
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Ng K et al.
Circulation, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
An optogenetic arrhythmia model to study catecholaminergic polymorphic ventricular tachycardia mutations.
Fischer E et al.
Scientific Reports, 2017
Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease.
Paludan-Müller C et al.
Circulation. Cardiovascular Genetics, 2017
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Paludan-Müller C et al.
Clinical Genetics, 2017
Polymorphism identification and cardiac gene expression analysis of the calsequestrin 2 gene in broiler chickens with sudden death syndrome.
Basaki M et al.
British Poultry Science, 2016
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.
Leenhardt A et al.
Circulation. Arrhythmia and Electrophysiology, 2012
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Faggioni M et al.
Pediatric Cardiology, 2012
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia.
Hong RA et al.
Pacing and Clinical Electrophysiology : Pace, 2012
Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants.
Bal NC et al.
The Biochemical Journal, 2011
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Priori SG et al.
Circulation Research, 2011
A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.
de la Fuente S et al.
Pacing and Clinical Electrophysiology : Pace, 2008
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy.
Watanabe H et al.
Journal of Electrocardiology, 0