Associated Papers
Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.
Bolling MC et al.
Experimental Dermatology, 2025
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
36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
Cabral RM et al.
Journal of Cell Science, 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
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Journal of Medical Genetics, 2010
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
Tanaka A et al.
The British Journal of Dermatology, 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
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
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