Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

18 Oct 2001

Abstract excerpt

BACKGROUND: The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated whether the deficiency of the tenascins, extracellular-matrix proteins that are highly expressed in connective...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Adhesion Molecules Research
Share to Connective tissue disorders research
Share to Tendon Structure and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11642233
DOI: 10.1056/nejmoa002939

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X DeficiencyPMID 11642233Read ↗

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

The Ehlers-Danlos syndrome.Semantic proximity Read ↗

The Ehlers-Danlos syndrome, a disorder with many faces.Semantic proximity Read ↗

Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.Semantic proximity Read ↗

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Semantic proximity Read ↗

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

The Ehlers-Danlos syndromes.Semantic proximity Read ↗

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

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

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB VariantSemantic proximity Read ↗

[Ehlers-Danlos syndromes].Semantic proximity Read ↗

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.