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Items: 1 to 20 of 117

1.

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG, Imel EA, White KE.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020. Review.

2.

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Folsom LJ, Imel EA.

Curr Osteoporos Rep. 2015 Apr;13(2):78-87. doi: 10.1007/s11914-015-0254-3. Review.

PMID:
25656441
3.

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.

Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE.

J Clin Endocrinol Metab. 2006 Oct;91(10):4037-42. Epub 2006 Jul 25.

PMID:
16868048
4.

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Chefetz I, Sprecher E.

Biochim Biophys Acta. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008. Epub 2008 Oct 25. Review.

6.

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

Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, Hui SL, Econs MJ.

Endocrinology. 2009 Jun;150(6):2543-50. doi: 10.1210/en.2008-0877. Epub 2009 Feb 12.

7.

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

Sprecher E.

J Invest Dermatol. 2010 Mar;130(3):652-60. doi: 10.1038/jid.2009.337. Epub 2009 Oct 29.

8.

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT.

J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20.

9.

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.

Dumitrescu CE, Kelly MH, Khosravi A, Hart TC, Brahim J, White KE, Farrow EG, Nathan MH, Murphey MD, Collins MT.

Osteoporos Int. 2009 Jul;20(7):1273-8. doi: 10.1007/s00198-008-0775-z. Epub 2008 Nov 4.

10.

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.

Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, Kılıç E.

J Bone Miner Metab. 2011 Sep;29(5):621-5. doi: 10.1007/s00774-011-0260-1. Epub 2011 Feb 25.

PMID:
21347749
11.

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

Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E.

Biochim Biophys Acta. 2009 Jan;1792(1):61-7. doi: 10.1016/j.bbadis.2008.09.016. Epub 2008 Oct 11.

12.

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E.

Hum Genet. 2005 Nov;118(2):261-6. Epub 2005 Nov 15.

PMID:
16151858
13.

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.

Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE.

J Clin Endocrinol Metab. 2005 Apr;90(4):2424-7. Epub 2005 Feb 1.

PMID:
15687325
14.

Two novel GALNT3 mutations in familial tumoral calcinosis.

Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE.

Am J Med Genet A. 2007 Oct 15;143A(20):2390-6.

PMID:
17853462
15.

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

Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ.

J Clin Endocrinol Metab. 2007 May;92(5):1943-7. Epub 2007 Feb 20.

PMID:
17311862
16.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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.

Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.

17.

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Specktor P, Cooper JG, Indelman M, Sprecher E.

J Hum Genet. 2006;51(5):487-90. Epub 2006 Mar 10.

PMID:
16528452
18.

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

Ichikawa S, Lyles KW, Econs MJ.

J Clin Endocrinol Metab. 2005 Apr;90(4):2420-3. Epub 2005 Feb 1.

PMID:
15687324
19.

A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.

Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, Falchetti A, Franceschelli F, Marcucci G, Tanini A, Capanna R, Brandi ML.

J Bone Joint Surg Am. 2009 May;91(5):1190-8. doi: 10.2106/JBJS.H.00783.

PMID:
19411468
20.

Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.

Ichikawa S, Gray AK, Padgett LR, Allen MR, Clinkenbeard EL, Sarpa NM, White KE, Econs MJ.

Endocrinology. 2014 Oct;155(10):3891-8. doi: 10.1210/en.2014-1199. Epub 2014 Jul 22.

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