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Article

Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice.

The Journal of investigative dermatology - 1 Jun 2014

Adeyo Oludotun, Allan Bernard B, Barnes Richard H, Goulbourne Chris N, Tatar Angelica, Tu Yiping, Young Lorraine C, Weinstein Michael M, Tontonoz Peter, Fong Loren G, Beigneux Anne P, Young Stephen G

Abstract excerpt

Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). SLURP1 is a secreted protein that is expressed highly in keratinocytes but has also been identified elsewhere (e.g., spinal cord neurons). Here, we examined Slurp1-deficient mice (Slurp1(-/-)) created by replacing exon 2 with β-gal and neo cassettes. Slurp1(-/-) mice developed severe PPK characterized by increased keratinocyte...

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Source

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Identifiers

PMID: 24499735
DOI: 10.1038/jid.2014.19
PMCID: PMC4214150

Genes

SLURP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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