Associated Papers
The molecular architecture of the desmosomal outer dense plaque by integrative structural modeling.
Pasani S et al.
Protein Science : a Publication of the Protein Society, 2024
The molecular architecture of the desmosomal outer dense plaque by integrative structural modeling.
Pasani S et al.
Biorxiv : the Preprint Server for Biology, 2024
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.
Yuan ZY et al.
Chinese Medical Journal, 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
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden LM et al.
Human Molecular Genetics, 2016
Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
Patel DM et al.
The Journal of Cell Biology, 2014
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
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
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
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy.
Rampazzo A
Heart International, 2006
Molecular abnormalities of the desmosomal protein desmoplakin in human disease.
Lai Cheong JE et al.
Clinical and Experimental Dermatology, 2005
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
Whittock NV et al.
The Journal of Investigative Dermatology, 2002
Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.
Yang M et al.
Case Reports in Dermatology, 0