http://purl.uniprot.org/citations/18172553 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/18172553 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients with X-linked hypophosphatemia (XLH) and the hyp-mouse, a model of XLH characterized by a deletion in the Phex gene, manifest hypophosphatemia, renal phosphate wasting, and rickets/osteomalacia. Cloning of the PHEX/Phex gene and mutations in affected patients and hyp-mice established that alterations in PHEX/Phex expression underlie XLH. Although PHEX/Phex expression occurs primarily in osteoblast lineage cells, transgenic Phex expression in hyp-mouse osteoblasts fails to rescue the phenotype, suggesting that Phex expression at other sites underlies XLH. To establish whether abnormal Phex in osteoblasts and/or osteocytes alone generates the HYP phenotype, we created mice with a global Phex knockout (Cre-PhexDeltaflox/y mice) and conditional osteocalcin-promoted (OC-promoted) Phex inactivation in osteoblasts and osteocytes (OC-Cre-PhexDeltaflox/y). Serum phosphorus levels in Cre-PhexDeltaflox/y, OC-Cre-PhexDeltaflox/y, and hyp-mice were lower than those in normal mice. Kidney cell membrane phosphate transport in Cre-PhexDeltaflox/y, OC-Cre-PhexDeltaflox/y, and hyp-mice was likewise reduced compared with that in normal mice. Abnormal renal phosphate transport in Cre-PhexDeltaflox/y and OC-Cre-PhexDeltaflox/y mice was associated with increased bone production and serum FGF-23 levels and decreased kidney membrane type IIa sodium phosphate cotransporter protein, as was the case in hyp-mice. In addition, Cre-PhexDeltaflox/y, OC-Cre-PhexDeltaflox/y, and hyp-mice manifested comparable osteomalacia. These data provide evidence that aberrant Phex function in osteoblasts and/or osteocytes alone is sufficient to underlie the hyp-mouse phenotype."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci32702"xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Kumar R."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Xie Y."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Yuan B."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Feng J.Q."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Rowe P.S."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Drezner M.K."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Clemens T.L."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/author | "Takaiwa M."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/pages | "722-734"xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/title | "Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia."xsd:string |
http://purl.uniprot.org/citations/18172553 | http://purl.uniprot.org/core/volume | "118"xsd:string |
http://purl.uniprot.org/citations/18172553 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18172553 |
http://purl.uniprot.org/citations/18172553 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18172553 |
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