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Article

Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.

Human mutation - 1 May 2009

Roth Wera, Reuter Ursula, Wohlenberg Claudia, Bruckner-Tuderman Leena, Magin Thomas M

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a skin disorder caused by fully-penetrant mutations in the keratin genes KRT5 and KRT14, leading to extensive cytolysis and cell fragility of basal keratinocytes. EBS is subject to environmental conditions and displays high intra- and interfamilial variability, suggesting modifying loci. Here, we demonstrate that upregulation of certain cytokines accompanies mutations in...

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Source

Identifiers

PMID: 19267394
DOI: 10.1002/humu.20981

Genes

KRT14
KRT5
MIP
CCL19
CCL2
CCL20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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