Article
Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 2002
Bai Xiuying, Miao Dengshun, Panda Dibiyendu, Grady Scott, McKee Marc D, Goltzman David, Karaplis Andrew C
Abstract excerpt
Inactivating mutations and/or deletions of PHEX/Phex (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) are responsible for X-linked hypophosphatemic rickets in humans and in the murine homolog Hyp. The predominant osteoblastic expression of Phex has implicated a primary metabolic osteoblast defect in the pathophysiology of this disorder. By targeting PHEX expression to osteoblasts...
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