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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 syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme, we suggested that tenascin-X might...

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Source

Identifiers

PMID: 11925569
DOI: 10.1038/ng850

Genes

TNXB

Provenance

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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Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.PMID 11925569Read ↗

Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.Semantic proximity Read ↗

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A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X DeficiencySemantic proximity Read ↗

Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndromeSemantic proximity Read ↗

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.Semantic proximity Read ↗

Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin‐X mutationsSemantic proximity Read ↗

Compound heterozygous mutations of the TNXB gene cause primary myopathy.Semantic proximity Read ↗

A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.Semantic proximity Read ↗

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.Semantic proximity Read ↗

[The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question].Semantic proximity Read ↗

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.Semantic proximity Read ↗

Tenascin-X: beyond the architectural functionSemantic proximity Read ↗

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