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Article

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.

Endocrinology - 1 Jun 2009

Ichikawa Shoji, Sorenson Andrea H, Austin Anthony M, Mackenzie Donald S, Fritz Timothy A, Moh Akira, Hui Siu L, Econs Michael J

Abstract excerpt

Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast growth factor 23 (FGF23), Klotho (KL), and uridine diphosphate-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3...

Read the complete abstract on PubMed

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19213845
DOI: 10.1210/en.2008-0877
PMCID: PMC2689800

Genes

FGF23
GALNT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19213845-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.PMID 19213845Read ↗

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.Semantic proximity Read ↗

Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.Semantic proximity Read ↗

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.Semantic proximity Read ↗

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.Semantic proximity Read ↗

Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.Semantic proximity Read ↗

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.Semantic proximity Read ↗

Mechanistic insights into mutations that cause diseases of phosphate dysregulation.Semantic proximity Read ↗

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.Semantic proximity Read ↗

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.Semantic 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 ↗

Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.Semantic proximity Read ↗

In vivo genetic evidence for klotho-dependent, fibroblast growth factor 23 (Fgf23) -mediated regulation of systemic phosphate homeostasis.Semantic proximity Read ↗

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