Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.
Godsel LM et al.
The Journal of Clinical Investigation, 2022
34905516 (PubMed )
Supplement: jci-132-144363-s068.pdf
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Cohen-Barak E et al.
The Journal of Investigative Dermatology, 2020
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
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber S et al.
Experimental Dermatology, 2018
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.
Has C et al.
The British Journal of Dermatology, 2015
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