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Article

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

Pediatric research - 1 Nov 1998

Muller Y L, Collins J F, Ghishan F K

Abstract excerpt

X-linked hypophosphatemic (Hyp) rickets is characterized by short stature, rickets, and bone abnormalities. Biochemically, hypophosphatemia and decreased renal reabsorption of phosphate are the hallmark of the disorder. Mutation of the PEX gene has been linked to human and murine Hyp rickets. Our study showed that phenotypical changes of this disease could be detected in 6-wk-old mice, but not in 2-wk-old mice....

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Identifiers

PMID: 9803442
DOI: 10.1203/00006450-199811000-00003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter.PMID 9803442Read ↗

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

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

Effect of phosphate supplementation on the expression of the mutant phenotype in murine X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Nuclear xenobiotic receptor PXR-null mouse exhibits hypophosphatemia and represses the Na/Pi-cotransporter SLC34A2.Semantic proximity Read ↗

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

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

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

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

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

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