Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Akbar A et al.
Bmc Medical Genetics, 2019
31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.
Harmon RM et al.
The Journal of Clinical Investigation, 2013
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Hershkovitz D et al.
Clinical and Experimental Dermatology, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
Barber AG et al.
Journal of Dermatological Science, 2007
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
Milingou M et al.
Dermatology (basel, Switzerland), 2006
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network.
Wan H et al.
The British Journal of Dermatology, 2004
Targetting of desmoglein 1 in inherited and acquired skin diseases.
Whittock NV et al.
Clinical and Experimental Dermatology, 2003
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt DM et al.
European Journal of Human Genetics : Ejhg, 2001
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