Results 141 to 150 of about 4,164 (178)

Glucocorticoid regulation of the murine PHEX gene

American Journal of Physiology-Renal Physiology, 2002
The phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) is a member of the neutral endopeptidase family, which is expressed predominantly on the plasma membranes of mature osteoblasts and osteocytes. Although it is known that the loss of PHEX function results in X-linked hypophosphatemic rickets, characterized by ...
Eric R, Hines, James F, Collins, Marci D, Jones, Samantha H, Serey, Fayez K, Ghishan   +4 more
openaire   +2 more sources

Phex mutation causes overexpression of FGF23 in teeth

Archives of Oral Biology, 2008
Hyp mice have a disorder in phosphate homeostasis, and display hypo-mineralization in bones and teeth, while the Phex (phosphate regulating gene homologies to endopeptidase on the X chromosome) gene in Hyp mice has a deletion of the 3' end. We investigated whether a mutation of Phex has an effect on the expression level of fibroblast growth factor 23 ...
T, Onishi, S, Umemura, S, Shintani, T, Ooshima   +3 more
openaire   +2 more sources

Molecular cloning of the murine PHEX gene promoter

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 2000
We report the novel cloning of the murine PHEX promoter, the gene that is mutated in X-linked hypophosphatemic rickets (XLH). Four promoter/reporter gene constructs, -133/+104, -542/+104, -1061/+104, and -2866/+104, showed significant luciferase activity (4.9-13.2-fold over background) when transfected into rat osteogenic sarcoma (UMR-106) cells.
E R, Hines, J F, Collins, F K, Ghishan
openaire   +2 more sources

Effect of Age on the Expression of Pex (Phex) in the Mouse

Calcified Tissue International, 2000
Pex is a newly discovered gene (also called Phex) whose mutation is the cause of X-linked hypophosphatemia. Other members of this gene family encode endopeptidases that activate or inactivate endocrine and paracrine factors. Though embryonic bone expresses mRNA for the Pex gene at relatively high levels, we have found Pex expression to be widespread in
R A, Meyer, C G, Young, M H, Meyer, P L, Garges, D K, Price   +4 more
openaire   +2 more sources

Novel PHEX Mutation Associated with Hypophosphatemic Rickets

Nephron Physiology, 2007
<i>Background:</i> X-linked hypophosphatemia (XLH) is the most prevalent heritable form of rickets. It is a dominantly inherited disorder, characterized by renal phosphate wasting, abnormal vitamin D and PTH metabolism, and defective bone mineralization.
Katharina M, Roetzer, Franz, Varga, Elisabeth, Zwettler, Kamilla, Nawrot-Wawrzyniak, Joerg, Haller, Ernst, Forster, Klaus, Klaushofer   +6 more
openaire   +2 more sources

Cloning and characterization of three PHEX homologues in Drosophila

Journal of Bone and Mineral Metabolism, 2004
Inactivating mutations and/or deletions of PHEX ( Phosphate-regulating gene with Homologies to Endopeptidase on the X chromosome) are responsible for X-linked hypophosphatemic rickets in humans. In the present study, three Drosophila PHEX homologues (dPHEX-1, -2, -3) were isolated by the screening of a Drosophila cDNA library and expressed sequence tag
Mikiko, Ito, Emiko, Akai, Michiyo, Izuka, Hiroko, Segawa, Masashi, Kuwahata, Ken-ichi, Miyamoto   +5 more
openaire   +2 more sources

Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia

Mammalian Genome, 1999
Mutations in the PHEX gene (phosphate-regulating gene with homology to endopeptidases on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP). We previously reported the full-length coding sequence of murine Phex cDNA and provided evidence of Phex expression in bone and tooth.
L, Wang, L, Du, B, Ecarot
openaire   +2 more sources

More on Acquired Osteomalacia and Autoantibodies against PHEX

New England Journal of Medicine
To the Editor: The letter by Hoshino and coworkers (Jan. 30 issue)(1) hypothesizes an immune-mediated pathogenesis of tumor-induced osteomalacia in patients in whom the neoplasia was not localized. This suggestion may open the way to new therapeutic options in addition to conventional and burosumab treatments.
Minisola, Salvatore, Pepe, Jessica, Cipriani, Cristiana   +2 more
openaire   +4 more sources

The critical interaction of the metallopeptidase PHEX with heparan sulfate proteoglycans

The International Journal of Biochemistry & Cell Biology, 2008
The PHEX gene (phosphate-regulating gene with homologies to endopeptidase on the X chromosome) identified as a mutated gene in patients with X-linked hypophosphatemia (XLH), encodes a protein (PHEX) that shows striking homologies to members of the M13 family of zinc metallopeptidases.
Nilana M T, Barros, Fabio D, Nascimento, Vitor, Oliveira, Maria Aparecida, Juliano, Luiz, Juliano, Thomas, Loisel, Helena B, Nader, Guy, Boileau, Ivarne L S, Tersariol, Adriana K, Carmona   +9 more
openaire   +2 more sources

Analysis of recombinant Phex: an endopeptidase in search of a substrate

American Journal of Physiology-Endocrinology and Metabolism, 2001
X-linked hypophosphatemia (XLH) is caused by inactivating mutations of Phex, a phosphate-regulating endopeptidase. Further advances in our knowledge of the pathogenesis of XLH require identification of the biological function of Phex and its physiologically relevant substrates.
R, Guo, S, Liu, R F, Spurney, L D, Quarles   +3 more
openaire   +2 more sources