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
A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.
Zhao XJ et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.
Mohammed F et al.
International Journal of Molecular Sciences, 2022
Molecular mechanism of intermediate filament recognition by plakin proteins.
Mohammed F et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
Novel desmoplakin mutations in familial Carvajal syndrome.
Yermakovich D et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Favre B et al.
Circulation. Genomic and Precision Medicine, 2018
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
Structure of the Intermediate Filament-Binding Region of Desmoplakin.
Kang H et al.
Plos One, 2016
Cell adhesion and repair.
Unknown Author
The Journal of Investigative Dermatology, 2015
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 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
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
Hobbs RP et al.
The Journal of Investigative Dermatology, 2010
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Journal of Medical Genetics, 2010
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
Bolling MC et al.
The British Journal of Dermatology, 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
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
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
Uzumcu A et al.
Journal of Medical Genetics, 2006
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.
Rampazzo A
Heart International, 2006
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.
Alcalai R et al.
Journal of the American College of Cardiology, 2003
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
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
Protonotarios N et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0