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Li, V. GALNT3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5620 (accessed on 21 September 2026).
Li V. GALNT3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5620. Accessed September 21, 2026.
Li, Vivi. "GALNT3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5620 (accessed September 21, 2026).
Li, V. (2020, December 25). GALNT3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5620
Li, Vivi. "GALNT3 Gene." Encyclopedia. Web. 25 December, 2020.
GALNT3 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/galnt3

Polypeptide N-acetylgalactosaminyltransferase 3

genes

References

  1. Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E. GALNT3, a geneassociated with hyperphosphatemic familial tumoral calcinosis, istranscriptionally regulated by extracellular phosphate and modulates matrixmetalloproteinase activity. Biochim Biophys Acta. 2009 Jan;1792(1):61-7. doi:10.1016/j.bbadis.2008.09.016.
  2. Chefetz I, Sprecher E. Familial tumoral calcinosis and the role ofO-glycosylation in the maintenance of phosphate homeostasis. Biochim BiophysActa. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008.
  3. Farrow EG, Imel EA, White KE. Miscellaneous non-inflammatory musculoskeletalconditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 andαKlotho). Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi:10.1016/j.berh.2011.10.020. Review.
  4. Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M,Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A.2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.
  5. Sprecher E. Familial tumoral calcinosis: from characterization of a rarephenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010Mar;130(3):652-60. doi: 10.1038/jid.2009.337.
  6. Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, Kılıç E. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoralcalcinosis. J Bone Miner Metab. 2011 Sep;29(5):621-5. doi:10.1007/s00774-011-0260-1.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 734
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
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