Associated Papers
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
Wang T et al.
Bmc Medical Genomics, 2023
Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis.
Shulepko MA et al.
The Journal of Investigative Dermatology, 2021
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
Jafar Hussain HM et al.
Annals of Clinical and Laboratory Science, 2019
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
Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly-6/uPAR-related protein 1.
Kunisada M et al.
The Journal of Dermatology, 2019
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
Radiono S et al.
International Journal of Dermatology, 2017
Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
Taylor JA et al.
The Australasian Journal of Dermatology, 2016
Mal de Meleda: A Focused Review.
Perez C et al.
American Journal of Clinical Dermatology, 2016
Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase.
Beigneux AP et al.
The Journal of Biological Chemistry, 2009
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.
Favre B et al.
The Journal of Investigative Dermatology, 2007
A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.
Yerebakan O et al.
Clinical and Experimental Dermatology, 2003
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