| http://purl.uniprot.org/citations/29551664 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29551664 | http://www.w3.org/2000/01/rdf-schema#comment | "Type III collagen is a major fibrillar collagen consisting of three identical α1(III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α1(III)-chains. The mechanisms by which these mutant type III collagen molecules cause dermal and vascular fragility are not well understood. We generated a transgenic mouse line expressing mutant type III collagen, containing a typical helical glycine substitution (p.(Gly182Ser)). This Col3a1Tg-G182S mouse line displays a phenotype recapitulating characteristics of human vEDS patients with signs of dermal and vascular fragility. The Col3a1Tg-G182S mice develop severe transdermal skin wounds, resulting in early demise at 13-14weeks of age. We found that this phenotype was associated with a reduced total collagen content and an abnormal collagen III:I ratio, leading to the production of severely malformed collagen fibrils in the extracellular matrix of dermal and arterial tissues. These results indicate that expression of the glycine substitution in the α1(III)-chain disturbs formation of heterotypic type III:I collagen fibrils, and thereby demonstrate a key role for type III collagen in collagen fibrillogenesis in dermal and arterial tissues."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.matbio.2018.03.008"xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Ishikawa Y."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "De Rycke R."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "De Paepe A."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Janssens S."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Keene D.R."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Guillemyn B."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Malfait F."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Symoens S."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Syx D."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Bachinger H.P."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "D'hondt S."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Bertrand M.J.M."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Lambrecht B.N."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Toussaint W."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/author | "Vanhoutte L."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/name | "Matrix Biol"xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/pages | "72-83"xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/title | "Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model."xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://purl.uniprot.org/core/volume | "70"xsd:string |
| http://purl.uniprot.org/citations/29551664 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29551664 |
| http://purl.uniprot.org/citations/29551664 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29551664 |