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

Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.

The American journal of pathology - 1 Oct 2017

Park Arick C, Phan Noel, Massoudi Dawiyat, Liu Zhenjie, Kernien John F, Adams Sheila M, Davidson Jeffrey M, Birk David E, Liu Bo, Greenspan Daniel S

Abstract excerpt

Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Collagen Type V

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dermis

Share to Ehlers-Danlos Syndrome

Share to Integrases

Share to Skin Abnormalities

Share to Tamoxifen

Share to Wound Healing

Source

Open in PubMed Open full text

Identifiers

PMID: 28734943
DOI: 10.1016/j.ajpath.2017.06.006
PMCID: PMC5809516

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

Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.PMID 28734943Read ↗

Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.Semantic proximity Read ↗

Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.Semantic proximity Read ↗

Elastic and collagenous networks in vascular diseases.Semantic proximity Read ↗

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.Semantic proximity Read ↗

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.Semantic proximity Read ↗

Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.Semantic proximity Read ↗

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.Semantic proximity Read ↗

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.Semantic proximity Read ↗

Genetic disorders of the elastic fiber system.Semantic proximity Read ↗

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Semantic proximity Read ↗

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