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

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Circulation journal : official journal of the Japanese Circulation Society - 1 Feb 2007

Watanabe Atsushi, Kosho Tomoki, Wada Takahiro, Sakai Noriyasu, Fujimoto Mitsuo, Fukushima Yoshimitsu, Shimada Takashi

Abstract excerpt

BACKGROUND: The vascular type of Ehlers-Danlos syndrome (vEDS, EDS type IV; MIM#130050) is an autosomal dominantly inherited disorder that results from mutations in the genes for type III procollagen (COL3A1). Affected individuals with vEDS are at risk of arterial rupture, aneurysm, and/or dissection; gastrointestinal perforation or rupture; and uterine rupture during pregnancy, which may lead to sudden death....

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type III

Share to Ehlers-Danlos Syndrome

Share to Fibroblasts

Share to Pedigree

Source

Identifiers

PMID: 17251678
DOI: 10.1253/circj.71.261

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.PMID 17251678Read ↗

Vascular type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Semantic proximity Read ↗

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.Semantic proximity Read ↗

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.Semantic proximity Read ↗

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.Semantic proximity Read ↗

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).Semantic proximity Read ↗

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.Semantic proximity Read ↗

Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.Semantic proximity Read ↗

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Semantic proximity Read ↗

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.Semantic proximity Read ↗

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.Semantic proximity Read ↗

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