| http://purl.uniprot.org/citations/11159191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11159191 | http://www.w3.org/2000/01/rdf-schema#comment | "Inogranic pyrophosphate (PPi) inhibits hydroxyapatite deposition, and mice deficient in the PPi-generating nucleoside triphosphate pyrophosphohydrolase (NTPPPH) Plasma cell membrane glycoprotein-1 (PC-1) develop peri-articular and arterial calcification in early life. In idiopathic infantile arterial calcification (IIAC), hydroxyapatite deposition and smooth muscle cell (SMC) proliferation occur, sometimes associated with peri-articular calcification. Thus, we assessed PC-1 expression and PPi metabolism in a 25-month-old boy with IIAC and peri-articular calcifications. Plasma PC-1 was <1 ng/ml by enzyme-linked immunosorbent assay in the proband, but 10 to 30 ng/ml in unaffected family members and controls. PC-1 functioned to raise extracellular PPi in cultured aortic SMCs. However, PC-1 was sparse in temporal artery lesion SMCs in the proband, unlike the case for SMCs in atherosclerotic carotid artery lesions of unrelated adults. Proband plasma and explant-cultured dermal fibroblast NTPPPH and PPi were markedly decreased. The proband was heterozygous at the PC-1 locus, and sizes of PC-1 mRNA and polypeptide, and the PC-1 mRNA-coding region sequence were normal in proband fibroblasts. However, immunoreactive PC-1 protein was relatively sparse in proband fibroblasts. In conclusion, deficient extracellular PPi and a deficiency of PC-1 NTPPPH activity can be associated with human infantile arterial and peri-articular calcification, and may help explain the sharing of certain phenotypic features between some IIAC patients and PC-1-deficient mice."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0002-9440(10)63996-x"xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Johnson K."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Rutsch F."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Sano K."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Superti-Furga A."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Terkeltaub R."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Vaingankar S."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Kalhoff H."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Boisvert W.A."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Goldfine I."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Maddux B."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/author | "Schauerte P."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/name | "Am J Pathol"xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/pages | "543-554"xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/title | "PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification."xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://purl.uniprot.org/core/volume | "158"xsd:string |
| http://purl.uniprot.org/citations/11159191 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11159191 |
| http://purl.uniprot.org/citations/11159191 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11159191 |
| http://purl.uniprot.org/uniprot/P22413#attribution-662CD3A3F644B2E00924355FFF390380 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/11159191 |