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Article

Gene Therapy for Dystrophic Epidermolysis Bullosa.

Experimental dermatology - 1 Aug 2026

Has Cristina, Karakioulaki Meropi

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a rare, debilitating genodermatosis caused by loss-of-function variants in COL7A1, resulting in type VII collagen (C7) deficiency and defective anchoring fibrils, which are essential for dermal-epidermal adhesion. COL7A1 is a large gene, and C7 is synthesized by both keratinocytes and fibroblasts, and extracellularly secreted, where it forms a supramolecular network that...

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Topics

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Therapy

Share to Keratinocytes

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Source

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Identifiers

PMID: 42568047
DOI: 10.1111/exd.70339
PMCID: PMC13451533

Genes

C7
COL7A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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