Associated Papers
Insights into disease resilience and longevity: Hints from COVID-19 recovered nonagenarians and centenarians.
de Castro MV et al.
Gene, 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
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
Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
Cabral RM et al.
Cell and Tissue Research, 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
Lethal acantholytic epidermolysis bullosa.
McGrath JA et al.
Dermatologic Clinics, 2010
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Diseases of epidermal keratins and their linker proteins.
Uitto J et al.
Experimental Cell Research, 2007
Molecular and diagnostic aspects of genetic skin fragility.
Has C et al.
Journal of Dermatological Science, 2006
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.
Jonkman MF et al.
American Journal of Human Genetics, 2005
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