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
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Zhao Q et al.
International Journal of Legal Medicine, 2016
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
Jang MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 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
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