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http://purl.uniprot.org/citations/18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18172553http://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/18172553http://purl.org/dc/terms/identifier"doi:10.1172/jci32702"xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Kumar R."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Xie Y."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Yuan B."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Feng J.Q."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Rowe P.S."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Drezner M.K."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Clemens T.L."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/author"Takaiwa M."xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/name"J Clin Invest"xsd:string
http://purl.uniprot.org/citations/18172553http://purl.uniprot.org/core/pages"722-734"xsd:string
http://purl.uniprot.org/citations/18172553http://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/18172553http://purl.uniprot.org/core/volume"118"xsd:string
http://purl.uniprot.org/citations/18172553http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18172553
http://purl.uniprot.org/citations/18172553http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/18172553
http://purl.uniprot.org/uniprot/#_P70669-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_A2ICR0-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_A2AC80-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_B4DWG8-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_B4DNS0-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_B4E334-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553
http://purl.uniprot.org/uniprot/#_P78562-mappedCitation-18172553http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18172553