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

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Journal of musculoskeletal & neuronal interactions

• Publication date

  2007-09-04

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1172/JCI31330PMID 18094491PMCID PMC1940239
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Klotho converts canonical FGF receptor into a specific receptor for FGF23

  2006influential reference
• Regulation of Fibroblast Growth Factor-23 Signaling by Klotho*

  2006influential reference
• Defect in parathyroid-hormone-induced luminal calcium absorption in connecting tubules of Klotho mice.

  2006cited by this paper
• 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.

  2006influential reference
• Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family

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• Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

  2006influential reference
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  2006cited by this paper
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• Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

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• Suppression of Aging in Mice by the Hormone Klotho

  2005cited by this paper
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  2005cited by this paper
• Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

  2005cited by this paper
• Fibroblast growth factor 23: roles in health and disease.

  2005cited by this paper
• An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

  2005cited by this paper
• A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

  2005cited by this paper
• A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

  2005cited by this paper
• A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

  2005cited by this paper
• A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.

  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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