Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
34288589 (PubMed )
Supplement: MGG3-9-e1756-s001.xlsx › Table_S1
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
Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.
Nevet MJ et al.
The American Journal of Dermatopathology, 2015
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.
Has C et al.
The British Journal of Dermatology, 2015
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.
Harmon RM et al.
The Journal of Clinical Investigation, 2013
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
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
Kljuic A et al.
Experimental Dermatology, 2003
Targetting of desmoglein 1 in inherited and acquired skin diseases.
Whittock NV et al.
Clinical and Experimental Dermatology, 2003
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