Associated Papers
Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
Hegazy M et al.
Developmental Cell, 2022
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
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
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.
Cheng R et al.
The Journal of Dermatology, 2016
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
Schlipf NA et al.
The British Journal of Dermatology, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Samuelov L et al.
Nature Genetics, 2013
A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.
Srinivas SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.
Balan BK et al.
Pediatric Dermatology, 0
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