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Article

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Science (New York, N.Y.) - 21 Aug 1992

Rothnagel J A, Dominey A M, Dempsey L D, Longley M A, Greenhalgh D A, Gagne T A, Huber M, Frenk E, Hohl D, Roop D R

Abstract excerpt

Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis...

Topics

Amino Acid Sequence
Base Sequence
DNA
Humans
Ichthyosiform Erythroderma, Congenital
Keratins
Macromolecular Substances
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Conformation

Source

Identifiers

PMID: 1380725
DOI: 10.1126/science.257.5073.1128

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1380725-2026-08-29.1. 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 rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.PMID 1380725Read ↗

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.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 ↗

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).Semantic proximity Read ↗

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.Semantic proximity Read ↗

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

Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.Semantic proximity Read ↗

A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.Semantic proximity Read ↗

Excessive glycine loop variations in the keratin 10 tail domain and implications for skin fragility.Semantic proximity Read ↗

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexSemantic proximity Read ↗

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

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.Semantic proximity Read ↗

Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Semantic proximity Read ↗

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