Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 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
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
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.
Peter DCV et al.
International Journal of Dermatology, 2018
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Favre B et al.
Circulation. Genomic and Precision Medicine, 2018
Structure of the Intermediate Filament-Binding Region of Desmoplakin.
Kang H et al.
Plos One, 2016
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair.
Smith FJ et al.
The British Journal of Dermatology, 2012
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.
Keller DI et al.
Swiss Medical Weekly, 2012
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
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
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