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Article

Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.

Nature genetics - 1 Dec 2002

Chen Mei, Kasahara Noriyuki, Keene Douglas R, Chan Lawrence, Hoeffler Warren K, Finlay Deborah, Barcova Maria, Cannon Paula M, Mazurek Constance, Woodley David T

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous disorders caused by mutations in the human type VII collagen gene (COL7A1). Individuals with DEB lack type VII collagen and anchoring fibrils, structures that attach epidermis and dermis. The current lack of treatment...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12426566
DOI: 10.1038/ng1041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12426566-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.PMID 12426566Read ↗

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Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.Semantic proximity Read ↗

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Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.Semantic proximity Read ↗

The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Injection of Recombinant Human Type VII Collagen Corrects the Disease Phenotype in a Murine Model of Dystrophic Epidermolysis BullosaSemantic proximity Read ↗

Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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