Results 201 to 210 of about 6,876 (236)

Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation [PDF]

Journal of Bone and Mineral Research, 2020
Bixia Zheng, Aihua Zhang
exaly   +2 more sources

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PHEX, FGF23, DMP1 and beyond

Current Opinion in Nephrology and Hypertension, 2008
We aim to review the biological properties of novel molecules that are members of a kidney-bone axis involved in the regulation of phosphate homeostasis. In addition, we describe how an improved knowledge of the mechanisms leading to changes in renal phosphate handling may lead to the development of novel therapeutic approaches.As yet, eight genes ...
Tim M, Strom, Harald, Jüppner
exaly   +3 more sources

Inhibition of MEPE cleavage by Phex

Biochemical and Biophysical Research Communications, 2002
X-linked hypophosphatemia (XLH) and the Hyp-mouse disease homolog are caused by inactivating mutations of Phex which results in the local accumulation of an unknown autocrine/paracrine factor in bone that inhibits mineralization of extracellular matrix.
Rong, Guo, Peter S N, Rowe, Shiguang, Liu, Leigh G, Simpson, Zhou-Sheng, Xiao, L Darryl, Quarles   +5 more
openaire   +2 more sources

Downregulation of osteoblast Phex expression by PTH

Bone, 2005
Human/murine X-linked hypophosphatemia is a dominant disorder associated with renal phosphate wasting and defective bone mineralization. This disorder results from mutations in the PHEX/Phex (Phosphate-regulating gene with homologies to endopeptidases on the X chromosome) gene, which is expressed in fully differentiated osteoblasts.
Nathalie, Alos, Brigitte, Ecarot
openaire   +2 more sources

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

FGF23 is processed by proprotein convertases but not by PHEX

Bone, 2004
X-linked hypophosphatemia (XLH) and autosomal dominant hypophosphatemic rickets (ADHR) are characterized by renal phosphate wasting, rickets, and osteomalacia. ADHR is caused by gain of function mutations in the fibroblast growth factor 23 gene (FGF23). During secretion, FGF23 is processed at the C-terminus between amino acids 179 and 180. The cleavage
Hans Zischka
exaly   +3 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

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

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