Associated Papers
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations
Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Pohl GM et al.
Frontiers in Cardiovascular Medicine, 2023
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
Moreau A et al.
Clinical and Translational Medicine, 2021
Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal CAA et al.
Journal of the American Heart Association, 2020
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.
Hata Y et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.
Hata Y et al.
Brain Pathology (zurich, Switzerland), 2017
Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.
Ravikumar KE et al.
Bmc Bioinformatics, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B et al.
Circulation. Cardiovascular Genetics, 2013
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
Gaertner A et al.
Plos One, 2012
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
Gehmlich K et al.
Cardiovascular Research, 2011
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