| http://purl.uniprot.org/citations/18729813 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18729813 | http://www.w3.org/2000/01/rdf-schema#comment | "Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in RecQ DNA helicase. Ectopic soft tissue calcification is one of the well known symptoms in WS. However, the prevalence, clinical outcome, and mechanism of such calcification remain to be elucidated. The clinical features and mechanism of ectopic calcification were examined in seven patients with WS whose diagnosis were confirmed by a genomic DNA analysis. X-ray examinations revealed subcutaneous calcification in 35 of 41 major joints (85.3%). The patients complained of dermal pain at 23 joints among 35 joints (65.7%) with calcification. Refractory skin ulcers were found at the area of the skin overlaying the calcification in 16 joints (45.7%). In contrast, no pain or ulcers were observed in the joints without calcification. The presence of ectopic calcification could not be explained by a systemic hormonal abnormality. Cultured fibroblasts from WS patients underwent spontaneous mineralization in vitro in the normal phosphate condition, and overexpressed Pit-1, a transmembrane type III Na-Pi cotransporter both at the mRNA and protein levels. Phosphonophormic acid, a specific inhibitor for Pit-1, inhibited mineralization in the WS fibroblasts. Both calcification and Pit-1 overexpression were detected in the skin of WS in situ. WS showed a high prevalence of ectopic calcification, which was associated with dermal pain and refractory skin ulcers. An overexpression of Pit-1 therefore seems to play a key role in the formation of soft tissue calcification in this syndrome."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.org/dc/terms/identifier | "doi:10.1089/rej.2007.0649"xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Saito Y."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Takemoto M."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Shimoyama T."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Kobayashi K."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Satoh S."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Fujimoto M."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Takada A."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Koshizaka M."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Yokote K."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Honjo S."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Maezawa Y."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/author | "Irisuna H."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/name | "Rejuvenation Res"xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/pages | "809-819"xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/title | "Clinical outcome and mechanism of soft tissue calcification in Werner syndrome."xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/18729813 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18729813 |
| http://purl.uniprot.org/citations/18729813 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18729813 |
| http://purl.uniprot.org/uniprot/#_A7LNJ1-mappedCitation-18729813 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18729813 |
| http://purl.uniprot.org/uniprot/#_B3KVU0-mappedCitation-18729813 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18729813 |
| http://purl.uniprot.org/uniprot/#_Q8WUM9-mappedCitation-18729813 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18729813 |