Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
PTMD 2.0: an updated database of disease-associated post-translational modifications.
Huang X et al.
Nucleic Acids Research, 2025
The Role of Ryanodine Receptor 2 Polymorphisms in Oral Squamous Cell Carcinoma Susceptibility and Clinicopathological Features.
Hsu CH et al.
International Journal of Molecular Sciences, 2024
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.
Pérez PR et al.
Heart, Lung & Circulation, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 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 Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Calcium as a Key Player in Arrhythmogenic Cardiomyopathy: Adhesion Disorder or Intracellular Alteration?
Moccia F et al.
International Journal of Molecular Sciences, 2019
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia by Inhibition of Ca2+/Calmodulin-Dependent Kinase II.
Bezzerides VJ et al.
Circulation, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Identification of RyR2-PBmice and the effects of transposon insertional mutagenesis of the RyR2 gene on cardiac function in mice.
Wang Q et al.
Peerj, 2019
Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.
Roston TM et al.
Plos One, 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.
Broendberg AK et al.
Heart (british Cardiac Society), 2017
Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).
Fejzo MS et al.
Molecular and Cellular Endocrinology, 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
An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations.
Wang S et al.
Forensic Science International, 2017
A multiplex PCR strategy to screen for known mutations in families with sudden cardiac death burden.
Duong G et al.
Journal of Biological Methods, 2017
NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2).
Lee J et al.
Neurogastroenterology and Motility, 2015
RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure.
Francia P et al.
Journal of Cardiovascular Electrophysiology, 2015
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.
Roux-Buisson N et al.
Heart Rhythm, 2014
Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Huang L et al.
Forensic Science International, 2014
[Gene detection of GPD1-L and the association with sudden unexplained death syndrome in young adults].
Xu XL et al.
Fa Yi Xue Za Zhi, 2013
Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure.
Ran Y et al.
Clinical Science (london, England : 1979), 2010
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.
Thomas NL et al.
Febs Letters, 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
Genetic variability of RyR2 and CASQ2 genes in an Asian population.
Wong CH et al.
Forensic Science International, 2009
Ryanodine receptor-mediated arrhythmias and sudden cardiac death.
Blayney LM et al.
Pharmacology & Therapeutics, 2009
ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.
Koop A et al.
Biophysical Journal, 2008
Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.
Thomas NL et al.
Biochemical Society Transactions, 2007
Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies.
George CH et al.
Journal of Molecular and Cellular Cardiology, 2007
Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.
Milting H et al.
Cardiovascular Research, 2006
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end?
Jóna I et al.
Cardiovascular Research, 2006
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia.
Marks AR et al.
Journal of Cellular Physiology, 2002
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
Tiso N et al.
Human Molecular Genetics, 2001