ArticleThe Journal of clinical investigation1997
Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed, 289 citations in OpenAlex.
- Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Review
- A PAI-1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D-resistant rickets model mouse.FEBS open bio · 2024Article
- X-linked hypophosphatemic rickets: from diagnosis to management.Clinical and experimental pediatrics · 2024Article
- X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis.Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia.Blood advances · 2023Article
- Single-cell RNA sequencing identifiesFrontiers in physiology · 2023Article
- Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone.Orphanet journal of rare diseases · 2022Article
- Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.Nature reviews. Endocrinology · 2022Review
- Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Osteocytes and the pathogenesis of hypophosphatemic rickets.Frontiers in endocrinology · 2022Review
- FGF23 and Hypophosphatemic Rickets/Osteomalacia.Current osteoporosis reports · 2021Review
- The Causes of Hypo- and Hyperphosphatemia in Humans.Calcified tissue international · 2021Review
- FGF23 and Associated Disorders of Phosphate Wasting.Pediatric endocrinology reviews : PER · 2019Review
- Pharmacological management of X-linked hypophosphataemia.British journal of clinical pharmacology · 2019Review
- Sustained Klotho delivery reduces serum phosphate in a model of diabetic nephropathy.Journal of applied physiology (Bethesda, Md. : 1985) · 2019Article
- A novelHuman genome variation · 2019Article
- Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?Frontiers in endocrinology · 2018Review
- Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.Endocrinology · 2017Article
- Review
11 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, was recently identified as the candidate gene for X-linked hypophosphatemia. In the present study, we cloned mouse and human Pex/PEX cDNAs encoding part of the 5' untranslated region, the protein coding region, and the entire 3' untranslated region, determined the tissue distribution of Pex/PEX mRNA, and characterized the Pex mutation in the murine Hyp homologue of the human disease. Using the reverse transcriptase/polymerase chain reaction (RT/PCR) and ribonuclease protection assays, we found that Pex/PEX mRNA is expressed predominantly in human fetal and adult mouse calvaria and long bone. With RNA from Hyp mouse bone, an RT/PCR product was generated with 5' but not 3' Pex primer pairs and a protected Pex mRNA fragment was detected with 5' but not 3' Pex riboprobes by ribonuclease protection assay. Analysis of the RT/PCR product derived from Hyp bone RNA revealed an aberrant Pex transcript with retention of intron sequence downstream from nucleotide 1302 of the Pex cDNA. Pex mRNA was not detected on Northern blots of poly (A)+ RNA from Hyp bone, while a low-abundance Pex transcript of approximately 7 kb was apparent in normal bone. Southern analysis of genomic DNA from Hyp mice revealed the absence of hybridizing bands with cDNA probes from the 3' region of the Pex cDNA. We conclude that Pex/PEX is a low-abundance transcript that is expressed predominantly in bone of mice and humans and that a large deletion in the 3' region of the Pex gene is present in the murine Hyp homologue of X-linked hypophosphatemia.
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