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Article

Expression signature of epidermolysis bullosa simplex.

Human genetics - 1 Mar 2012

Bchetnia Mbarka, Tremblay Marie-Lou, Leclerc Georgette, Dupérée Audrey, Powell Julie, McCuaig Catherine, Morin Charles, Legendre-Guillemin Valérie, Laprise Catherine

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a skin disorder resulting from a weakened cytoskeleton of the proliferative compartment of the epidermis, leading to cell fragility and blistering. Although many mutations have been identified in intermediate filament keratins KRT5 and KRT14, detailed pathogenic mechanisms and the way these mutations affect cell metabolism are unclear. Therefore, we performed genomic and...

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Source

Identifiers

PMID: 21877134
DOI: 10.1007/s00439-011-1077-7

Genes

KRT14
KRT5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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