Associated Papers
Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.
Pinci S et al.
Communications Medicine, 2026
The desmoglein 2 interactome in primary neonatal cardiomyocytes.
Li Y et al.
Journal of Cell Science, 2026
Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy.
Zankov DP et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 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
Desmoglein-2 deficiency results in cardiac dysfunction by compromising both Z-disc- and intercalated disc-mediated mechanotransduction.
Landim-Vieira M et al.
Biorxiv : the Preprint Server for Biology, 2025
The Desmoglein 2 interactome in primary neonatal cardiomyocytes.
Li Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L et al.
Circulation, 2025
Animal Models and Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy Associated with Pathogenic Variants in Intercalated Disc Genes.
Vencato S et al.
International Journal of Molecular Sciences, 2024
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
Blich M et al.
Pacing and Clinical Electrophysiology : Pace, 2024
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
Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.
Zhang B et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Desmosomes: emerging pathways and non-canonical functions in cardiac arrhythmias and disease.
Zhang J et al.
Biophysical Reviews, 2021
Arrhythmogenic cardiomyopathy: pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy.
van der Voorn SM et al.
Cardiovascular Research, 2020
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.
Bueno Marinas M et al.
International Journal of Molecular Sciences, 2020
In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
Debus JD et al.
Journal of Molecular and Cellular Cardiology, 2019
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
Chen L et al.
International Journal of Cardiology, 2019
Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
Lin Y et al.
Bmc Medical Genetics, 2018
The Cardiac Sodium Channel and Its Protein Partners.
Balse E et al.
Handbook of Experimental Pharmacology, 2018
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.
Hoorntje ET et al.
Cardiovascular Research, 2017
Animal models of arrhythmogenic right ventricular cardiomyopathy: what have we learned and where do we go? Insight for therapeutics.
Padrón-Barthe L et al.
Basic Research in Cardiology, 2017
Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling.
Martherus R et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2016
Desmoglein 2-Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive Function.
Kant S et al.
Circulation. Cardiovascular Genetics, 2015
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
Rigato I et al.
Circulation. Cardiovascular Genetics, 2013
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.
Rizzo S et al.
Cardiovascular Research, 2012
Mouse models in arrhythmogenic right ventricular cardiomyopathy.
Lodder EM et al.
Frontiers in Physiology, 2012
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
Gaertner A et al.
Plos One, 2012
Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?
Gehmlich K et al.
Heart Rhythm, 2010
Cardiac desmosomal (dys)function and myocyte viability.
Remme CA et al.
Cell Cycle (georgetown, Tex.), 2010
Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy.
Pilichou K et al.
The Journal of Experimental Medicine, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
Pilichou K et al.
Circulation, 2006
Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.
Lin Y et al.
Cardiology, 0