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Article

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

Nature - 19 Mar 1992

Lane E B, Rugg E L, Navsaria H, Leigh I M, Heagerty A H, Ishida-Yamamoto A, Eady R A

Abstract excerpt

In the hereditary blistering condition epidermolysis bullosa simplex, the skin blisters on trauma following rupture of epidermal basal cells. Clinical variations range from severely incapacitating, especially in early childhood, to mild forms that may not even present clinically. Dowling-Meara epidermolysis bullosa simplex is characterized by clusters of epidermal blisters and keratin clumping in the cytoplasm;...

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Identifiers

PMID: 1372711
DOI: 10.1038/356244a0

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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.

Related research

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Research trail→

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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.PMID 1372711Read ↗

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.Semantic proximity Read ↗

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.Semantic proximity Read ↗

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.Semantic proximity Read ↗

A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.Semantic proximity Read ↗

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.Semantic proximity Read ↗

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.Semantic proximity Read ↗

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation.Semantic proximity Read ↗

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.Semantic proximity Read ↗

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

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