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Article

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

The Journal of clinical investigation - 1 Mar 1992

Ryynänen M, Ryynänen J, Sollberg S, Iozzo R V, Knowlton R G, Uitto J

Abstract excerpt

Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association of the cutaneous basement membrane to the underlying dermis. Since type VII collagen is the major component of the...

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Source

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Identifiers

PMID: 1347297
DOI: 10.1172/JCI115680
PMCID: PMC442946

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.PMID 1347297Read ↗

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.Semantic proximity Read ↗

Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.Semantic proximity Read ↗

Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Dystrophic forms of epidermolysis bullosa.Semantic proximity Read ↗

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.Semantic 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 ↗

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.Semantic proximity Read ↗

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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

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