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Article

Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.

Human molecular genetics - 15 Nov 2003

Chimienti Fabrice, Hogg Ronald C, Plantard Laure, Lehmann Caroline, Brakch Noureddine, Fischer Judith, Huber Marcel, Bertrand Daniel, Hohl Daniel

Abstract excerpt

Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of receptor and secreted proteins, which participate in signal transduction, immune cell activation or cellular adhesion. The high degree of structural similarity between...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 14506129
DOI: 10.1093/hmg/ddg320

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.PMID 14506129Read ↗

Mutations in the gene encoding SLURP-1 in Mal de Meleda.Semantic proximity Read ↗

Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis.Semantic proximity Read ↗

Abnormal keratinization and cutaneous inflammation in Mal de Meleda.Semantic proximity Read ↗

Mal de Meleda: A Focused Review.Semantic proximity Read ↗

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.Semantic proximity Read ↗

Palmoplantar Keratoderma in Slurp2-Deficient Mice.Semantic proximity Read ↗

SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.Semantic proximity Read ↗

Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease.Semantic proximity Read ↗

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.Semantic proximity Read ↗

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read ↗

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.Semantic proximity Read ↗

SLURP-2, a novel member of the human Ly-6 superfamily that is up-regulated in psoriasis vulgaris☆☆Sequence data from this article have been deposited with the DDBJ/EMBL/GenBank Data Libraries under Accession No. AB081838.Semantic proximity Read ↗

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