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Article

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

The Journal of investigative dermatology - 1 Nov 1996

Jonkman M F, Heeres K, Pas H H, van Luyn M J, Elema J D, Corden L D, Smith F J, McLean W H, Ramaekers F C, Burton M, Scheffer H

Abstract excerpt

We studied a kindred with recessive epidermolysis bullosa simplex in which the affected members lacked expression of the basal cell keratin 14. The patients had severe generalized skin blistering that improved slightly with age. The basal cells of the patients did not express keratin 14 and contained no keratin intermediate filaments. The expression of keratin 5, the obligate copolymer of keratin 14, was slightly...

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Source

Identifiers

PMID: 8875963
DOI: 10.1111/1523-1747.ep12365805

Genes

KRT14

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.

Related research

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Research trail→

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Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.PMID 8875963Read ↗

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.Semantic proximity Read ↗

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.Semantic proximity Read ↗

Keratins and epidermolysis bullosa simplexSemantic proximity Read ↗

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

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

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.Semantic proximity Read ↗

Keratin gene mutations in disorders of human skin and its appendages.Semantic proximity Read ↗

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.Semantic proximity Read ↗

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.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 ↗

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

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