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Article

Developmental Expression and Tissue Distribution of Phex Protein: Effect of the <i>Hyp</i> Mutation and Relationship to Bone Markers

1 Aug 2000

Abstract excerpt

Mutations in PHEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, are responsible for X-linked hypophosphatemia (XLH). The murine Hyp homologue has the phenotypic features of XLH and harbors a large deletion in the 3' region of the Phex gene. We characterized the developmental expression and tissue distribution of Phex protein, using a monoclonal antibody against human PHEX,...

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Identifiers

PMID: 10934642
DOI: 10.1359/jbmr.2000.15.8.1440

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Related research

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Research trail→

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Developmental Expression and Tissue Distribution of Phex Protein: Effect of the <i>Hyp</i> Mutation and Relationship to Bone MarkersPMID 10934642Read ↗

Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia.Semantic proximity Read ↗

Partial rescue of the Hyp phenotype by osteoblast-targeted PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) expression.Semantic proximity Read ↗

Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype.Semantic proximity Read ↗

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.Semantic proximity Read ↗

Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.Semantic proximity Read ↗

X-linked hypophosphataemia: a homologous disorder in humans and mice.Semantic proximity Read ↗

Pex mRNA Is Localized in Developing Mouse Osteoblasts and OdontoblastsSemantic proximity Read ↗

Aberrant cementum phenotype associated with the hypophosphatemic hyp mouse.Semantic proximity Read ↗

Phex mutation causes overexpression of FGF23 in teeth.Semantic proximity Read ↗

Role of abnormal neutral endopeptidase-like activities in Hyp mouse bone cells in renal phosphate transport.Semantic proximity Read ↗

Cloning and sequencing of human PEX from a bone cDNA library: evidence for its developmental stage-specific regulation in osteoblasts.Semantic proximity Read ↗

Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter.Semantic proximity Read ↗

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