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Article

Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new insights into anchoring fibril assembly.

Matrix biology : journal of the International Society for Matrix Biology - 1 May 2026

Momin Neha S, Bagci I Sinem, Dolorito John A, Tufa Sara F, Tripathi Pragya, Sridhar Kunju J, Keene Douglas R, Marinkovich M Peter

Abstract excerpt

Type VII collagen (C7) assembles into anchoring fibrils (AF) which are basement membrane zone (BMZ) structures that reinforce dermal-epidermal cohesion. Mutations in COL7A1, which encodes C7, cause dystrophic epidermolysis bullosa (DEB), a blistering disorder characterized by skin fragility. C7 consists of a central collagenous domain flanked by non-collagenous NC1 and NC2 regions. During AF assembly,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41786094
DOI: 10.1016/j.matbio.2026.03.001

Genes

C7
COL7A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new insights into anchoring fibril assembly.PMID 41786094Read ↗

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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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