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PHEX neutralizing agent inhibits dentin formation in mouse tooth germ
Tissue and Cell, 2011The mutation of phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) can lead to human X-linked hypophosphatemic rickets which displays hypo-mineralization in bone and dentin. To study its possible roles in teeth, PHEX antibody was injected into pregnant mice on E15 to explore its roles on the formation of enamel and ...
Hongbing, Lv +3 more
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Altered cathepsin D metabolism in PHEX antisense human osteoblast cells
Biochemical and Biophysical Research Communications, 2005X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is caused by loss-of-function mutations of PHEX gene in osteoblast cells, leading to rachitic bone disease and hypophosphatemia. Available evidence today indicates that the bone defect in XLH is caused not only by hypophosphatemia and altered vitamin D metabolism, but also by ...
Naoko, Matsumoto +3 more
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Cloning and characterization of three PHEX homologues in Drosophila
Journal of Bone and Mineral Metabolism, 2004Inactivating 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 +5 more
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Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets
Nephron Physiology, 2010<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. <i>Clinical Picture:</i> We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu<sup>96</sup>X (c.286G>T) causing XLH in a mother and ...
M, Chandran +5 more
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R448 – Phex Mutation Causes Sensorineural Deafness in Mice
Otolaryngology–Head and Neck Surgery, 2008ProblemPug is an ENU mutated mouse model for X‐linked dominant hypophosphatemic rickets (XLH) in human. Mapping and sequence analysis revealed that Pug mutation is a unique Phe‐to‐Ser transition at amino acid 80 of PHEX protein leading to the loss of Phex function.
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De novo mutation of PHEX in a type 1 diabetes patient
Journal of Pediatric Endocrinology and Metabolism, 2016AbstractA new missense mutation on the X chromosome (
Chen, Fang +7 more
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2009
PHEX is an important protein in the process of osseous mineralisation. Mutations or deletions of a part of the PHEX gene cause X-linked hypophosphatemia (XLH). This disease is characterized by hypophosphatemia, accompanied by defects of bone mineralisation, rickets and osteomalacia.
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PHEX is an important protein in the process of osseous mineralisation. Mutations or deletions of a part of the PHEX gene cause X-linked hypophosphatemia (XLH). This disease is characterized by hypophosphatemia, accompanied by defects of bone mineralisation, rickets and osteomalacia.
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FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
American Journal of Physiology-Endocrinology and Metabolism, 2003There is evidence for a hormone/enzyme/extracellular matrix protein cascade involving fibroblastic growth factor 23 (FGF23), a phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), and a matrix extracellular phosphoglycoprotein (MEPE) that regulates systemic phosphate homeostasis and mineralization. Genetic studies of
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[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -].
Clinical calcium, 2008Most patients with inherited hypophosphatemic Rickets/Osteomalacia have mutations in the PHEX gene. In this brief review, we focus on the treatment for patients with this mutation. First, molecular basis of inherited hypophosphatemic Rickets/Osteomalacia, followed by pathophysiology of PHEX and its related disorders is described.
Yukihiro, Hasegawa, Junko, Miyamoto
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