Associated Papers
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
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy.
Volani C et al.
Journal of Cellular and Molecular Medicine, 2022
Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy-The Role of Cardiac MRI.
Manole S et al.
Journal of Personalized Medicine, 2022
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.
Zorzi A et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2016
Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls.
Akdis D et al.
Heart Rhythm, 2016
iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.
Notari M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
Patel DM et al.
The Journal of Cell Biology, 2014
Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy.
Asimaki A et al.
Cell Communication & Adhesion, 2014
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
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
Rasmussen TB et al.
Clinical Genetics, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Rasmussen TB et al.
Human Mutation, 2013
Mouse models in arrhythmogenic right ventricular cardiomyopathy.
Lodder EM et al.
Frontiers in Physiology, 2012
The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations.
Al-Jassar C et al.
Journal of Molecular Biology, 2011
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
Al-Owain M et al.
Clinical Genetics, 2011
Cardiac desmosomal (dys)function and myocyte viability.
Remme CA et al.
Cell Cycle (georgetown, Tex.), 2010
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 2010
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Bauce B et al.
Heart Rhythm, 2010
Cell-cell connection to cardiac disease.
Sheikh F et al.
Trends in Cardiovascular Medicine, 2009
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
Asimaki A et al.
Journal of Cutaneous Pathology, 2009
Review on the genetics of arrhythmogenic right ventricular dysplasia.
Moric-Janiszewska E et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2007
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Yang Z et al.
Circulation Research, 2006
Animal models of arrhythmogenic cardiomyopathy.
McCauley MD et al.
Disease Models & Mechanisms, 0