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Article

Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

American journal of human genetics - 1 Mar 1995

Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston R J, Sybert V P

Abstract excerpt

To explore the relationship between abnormal keratin molecules, 10-nm intermediate filament (IF) organization, and epidermal fragility and blistering, we sought to determine the functional consequences of homozygosity for a dominant keratin defect. We describe a family with an autosomal dominant skin-blistering disorder, epidermolysis bullosa simplex, Koebner subtype (EBS-K), that has a novel point mutation,...

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Source

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Identifiers

PMID: 7534039
PMCID: PMC1801159

Genes

KRT5

Provenance

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.

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Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.PMID 7534039Read ↗

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 ↗

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 ↗

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

Keratins and epidermolysis bullosa simplexSemantic proximity Read ↗

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

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.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 ↗

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.Semantic proximity Read ↗

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.Semantic proximity Read ↗

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.Semantic proximity Read ↗

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

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