| pubmed-article:15643621 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C1413580 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C0410528 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C1512032 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:15643621 | lifeskim:mentions | umls-concept:C1711207 | lld:lifeskim |
| pubmed-article:15643621 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:15643621 | pubmed:dateCreated | 2005-2-24 | lld:pubmed |
| pubmed-article:15643621 | pubmed:abstractText | Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, brachydactyly, and metaphyseal changes. Generally a perinatally lethal disease, a few long-term survivors have been reported. Recently, mutations in the carboxy-propeptide of type II collagen have been identified in two patients with PLSD-T, indicating that PLSD-T is a type 2 collagen-associated disorder. We studied eight additional cases of PLSD-T and found that all had mutations in the C-propeptide domain of COL2A1. The mutational spectrum includes missense, stop codon and frameshift mutations. All non-sense mutations were located in the last exon, where they would escape non-sense-mediated RNA-decay. We conclude that PLSD-T is caused by mutations in the C-propeptide domain of COL2A1, which lead to biosynthesis of an altered collagen chain (as opposed to a null allele). Similar mutations have recently been found to be the cause of spondyloperipheral dysplasia, a non-lethal dominant disorder whose clinical and radiographical features overlap those of the rare long-term survivors with PLSD-T. Thus, spondyloperipheral dysplasia and PLSD-T constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and brachydactyly that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1. The specific phenotype of C-propeptide mutations could result from a combination of diminished collagen fibril formation, toxic effects through the accumulation of unfolded collagen chains inside the chondrocytes, and alteration of a putative signaling function of the carboxy-propeptide of type 2 collagen. | lld:pubmed |
| pubmed-article:15643621 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15643621 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15643621 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15643621 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15643621 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15643621 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15643621 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:15643621 | pubmed:issn | 1552-4825 | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:OmranHeymutH | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:NeumannLuitga... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:WrightMichael... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:Superti-Furga... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:BonaféLuisaL | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:MortierGeertG | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:ZanklAndreasA | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:Schrander-Stu... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:ZabelBernhard... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:HilbertKatjaK | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:IgnatiusJaako... | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:NikkelsPeterP | lld:pubmed |
| pubmed-article:15643621 | pubmed:author | pubmed-author:SprangerJuerg... | lld:pubmed |
| pubmed-article:15643621 | pubmed:copyrightInfo | (c) 2005 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:15643621 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15643621 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:15643621 | pubmed:volume | 133A | lld:pubmed |
| pubmed-article:15643621 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15643621 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15643621 | pubmed:pagination | 61-7 | lld:pubmed |
| pubmed-article:15643621 | pubmed:dateRevised | 2008-5-21 | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
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| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:meshHeading | pubmed-meshheading:15643621... | lld:pubmed |
| pubmed-article:15643621 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15643621 | pubmed:articleTitle | Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. | lld:pubmed |
| pubmed-article:15643621 | pubmed:affiliation | Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland. andreas.zankl@hospvd.ch | lld:pubmed |
| pubmed-article:15643621 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15643621 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:15643621 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1280 | entrezgene:pubmed | pubmed-article:15643621 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15643621 | lld:pubmed |
