Associated Papers
Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.
Pergola V et al.
Circulation, 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
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
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Arrhythmogenic Cardiomyopathy: Exercise Pitfalls, Role of Connexin-43, and Moving beyond Antiarrhythmics.
Coscarella IL et al.
International Journal of Molecular Sciences, 2022
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
Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Frontiers in Physiology, 2020
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
GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
Albrecht LV et al.
The Journal of Cell Biology, 2015
Identification of arrhythmogenic right ventricular cardiomyopathy-causing gene mutations in young sudden unexpected death autopsy cases.
Sato T et al.
Journal of Forensic Sciences, 2015
Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy.
Asimaki A et al.
Cell Communication & Adhesion, 2014
Mouse models in arrhythmogenic right ventricular cardiomyopathy.
Lodder EM et al.
Frontiers in Physiology, 2012
Pathophysiology of arrhythmogenic cardiomyopathy.
Basso C et al.
Nature Reviews. Cardiology, 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
Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Corrado D et al.
Heart (british Cardiac Society), 2011
Cardiac desmosomal (dys)function and myocyte viability.
Remme CA et al.
Cell Cycle (georgetown, Tex.), 2010
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Mahoney MG et al.
The Journal of Investigative Dermatology, 2010
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T et al.
Journal of the American College of Cardiology, 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
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
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