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Article

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Journal of musculoskeletal & neuronal interactions - 1 Jan 2000

Ichikawa S, Imel E A, Kreiter M L, Yu X, Mackenzie D S, Sorenson A H, Goetz R, Mohammadi M, White K E, Econs M J

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Share to Calcinosis
Share to Fibroblast Growth Factor-23
Share to Fibroblast Growth Factors
Share to Glucuronidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Klotho Proteins

Share to N-Acetylgalactosaminyltransferases

Share to Polypeptide N-acetylgalactosaminyltransferase

Share to Receptors, Fibroblast Growth Factor

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Identifiers

PMID: 18094491

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.PMID 18094491Read ↗

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A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationSemantic proximity Read ↗

Biochemical and functional characterization of the klotho-VS polymorphism implicated in aging and disease risk.Semantic proximity Read ↗

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.Semantic proximity Read ↗

The FGF23/KLOTHO Regulatory Network and Its Roles in Human Disorders.Semantic proximity Read ↗

Klotho Acts as a Tumor Suppressor in CancersSemantic proximity Read ↗

A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.Semantic proximity Read ↗

Klotho and aging.Semantic proximity Read ↗

Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer.Semantic proximity Read ↗

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

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