Associated Papers
A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.
Giannoni A et al.
Jacc. Case Reports, 2025
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 2024
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
Desmosomes: emerging pathways and non-canonical functions in cardiac arrhythmias and disease.
Zhang J et al.
Biophysical Reviews, 2021
'Hot phase' clinical presentation in arrhythmogenic cardiomyopathy.
Bariani R 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, 2021
Creating a 'Molecular Band-Aid'; Blocking an Exposed Protease Target Site in Desmoplakin.
Hoover CA et al.
Journal of Personalized Medicine, 2021
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
Grondin S et al.
American Journal of Medical Genetics. Part A, 2020
Integrin β1D Deficiency-Mediated RyR2 Dysfunction Contributes to Catecholamine-Sensitive Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy.
Wang Y et al.
Circulation, 2020
Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation.
Ng R et al.
Jci Insight, 2019
Intercalated discs: cellular adhesion and signaling in heart health and diseases.
Zhao G et al.
Heart Failure Reviews, 2019
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
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
Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy.
Asimaki A et al.
Cell Communication & Adhesion, 2014
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
Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Corrado D et al.
Heart (british Cardiac Society), 2011
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
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
Asimaki A et al.
The New England Journal of Medicine, 2009
Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.
Yu CC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
Alonso-Orgaz S et al.
International Journal of Cardiology, 2007
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
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.
Rampazzo A
Heart International, 2006
Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies.
Sen-Chowdhry S et al.
European Heart Journal, 2005
Genetics of right ventricular cardiomyopathy.
Sen-Chowdhry S et al.
Journal of Cardiovascular Electrophysiology, 2005
Molecular abnormalities of the desmosomal protein desmoplakin in human disease.
Lai Cheong JE et al.
Clinical and Experimental Dermatology, 2005
Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Dokuparti MVN et al.
Journal of Human Genetics, 2005
[Update in arrhythmogenic right ventricular cardiomyopathy: genetic, clinical presentation and risk stratification].
Tomé Esteban MT et al.
Revista Espanola De Cardiologia, 2004
Structural and molecular pathology of the heart in Carvajal syndrome.
Kaplan SR et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0