Associated Papers
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Doğan Arı AB et al.
European Journal of Pediatrics, 2025
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
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
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
Lovgren ML et al.
The British Journal of Dermatology, 2017
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
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
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.
Dua-Awereh MB et al.
Journal of Dermatological Science, 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
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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