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Article

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

The Journal of investigative dermatology - 1 Mar 1995

Rothnagel J A, Wojcik S, Liefer K M, Dominey A M, Huber M, Hohl D, Roop D R

Abstract excerpt

Epidermolytic palmoplantar keratoderma is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles. Ultrastructurally the disease exhibits abnormal keratin filament networks and tonofilament clumping like that found in the keratin disorders of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. The disease has been mapped to chromosome 17q11-q23 in the region of the...

Topics

Base Sequence
Female
Humans
Keratins
Keratoderma, Palmoplantar
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7532199
DOI: 10.1111/1523-1747.ep12666018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7532199-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.PMID 7532199Read ↗

Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.Semantic proximity Read ↗

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.Semantic proximity Read ↗

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

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Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.Semantic proximity Read ↗

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Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.Semantic proximity Read ↗

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