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Article

Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

Nature genetics - 1 Apr 2002

Mao Jau Ren, Taylor Glen, Dean Willow B, Wagner Diane R, Afzal Veena, Lotz Jeffrey C, Rubin Edward M, Bristow James

Abstract excerpt

Tenascin-X is a large extracellular matrix protein of unknown function. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens. Because TNXB is the first Ehlers-Danlos syndrom...

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Source

Identifiers

PMID: 11925569
DOI: 10.1038/ng850

Genes

TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11925569-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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