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Article

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1 Jan 1995

Abstract excerpt

Keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal mucosal and palmoplantar keratinocytes. Mutations in keratins have been reported in the basal...

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Identifiers

PMID: 8595410
DOI: 10.1093/hmg/4.10.1875

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two familiesPMID 8595410Read ↗

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Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.Semantic proximity Read ↗

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A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.Semantic proximity Read ↗

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