Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012

Ichikawa Shoji, Austin Anthony M, Gray Amie K, Econs Michael J

Abstract excerpt

Mutations in the PHEX gene cause X-linked hypophosphatemia (XLH). Hypophosphatemia in XLH results from increased circulating levels of a phosphaturic hormone, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D (calcitriol) synthesis. The current standard therapy for XLH--high-dose phosphate and calcitriol--further increases FGF23 concentrations, suggesting...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Familial Hypophosphatemic Rickets
Share to Femur

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblast Growth Factor-23

Share to Fibroblast Growth Factors

Share to N-Acetylgalactosaminyltransferases

Share to Osteocytes

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Share to Polypeptide N-acetylgalactosaminyltransferase

Source

Open in PubMed Open full text

Identifiers

PMID: 22006791
DOI: 10.1002/jbmr.544
PMCID: PMC3288231

Genes

FGF23
PHEX

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.PMID 22006791Read ↗

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.Semantic proximity Read ↗

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.Semantic proximity Read ↗

Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice.Semantic proximity Read ↗

FGF23 and its role in X-linked hypophosphatemia-related morbiditySemantic proximity Read ↗

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

X-Linked Hypophosphatemia: A Review of Pathophysiology, Clinical Manifestations, Current Management, and Emerging Therapeutic StrategiesSemantic proximity Read ↗

FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.Semantic proximity Read ↗

FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate.Semantic proximity Read ↗

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

Hexa-D-arginine treatment increases 7B2•PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype.Semantic proximity Read ↗

Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.