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Article

Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia

1 Feb 1997

Abstract excerpt

X-linked hypophosphatemic rickets in humans is caused by mutations in the PEX gene which codes for a protein homologous to neutral endopeptidases. Hyp and Gy mice both have X-linked hypophosphatemic rickets, although genetic data and the different phenotypic spectra observed have previously suggested that two different genes are mutated. In addition to the metabolic disorder observed in Hyp mice, male Gy mice are...

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PMID: 9063736
DOI: 10.1093/hmg/6.2.165

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Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked HypophosphatemiaPMID 9063736Read ↗

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

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

Spermine deficiency in Gy mice caused by deletion of the spermine synthase geneSemantic 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 ↗

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

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic ricketsSemantic proximity Read ↗

The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.Semantic proximity Read ↗

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.Semantic proximity Read ↗

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

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

Craniofacial abnormalities in mice with X-linked hypophosphatemic genes (Hyp or Gy).Semantic proximity Read ↗

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.Semantic proximity Read ↗

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