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Items: 1 to 20 of 126

1.

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
2.

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
3.

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
4.

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.

5.

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
7.

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

Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ.

J Clin Endocrinol Metab. 2006 Nov;91(11):4472-5. Epub 2006 Aug 29.

PMID:
16940445
8.

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.

9.

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.

10.

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.

11.

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
12.
13.

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
14.

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.

15.

Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.

Shah A, Miller CJ, Nast CC, Adams MD, Truitt B, Tayek JA, Tong L, Mehtani P, Monteon F, Sedor JR, Clinkenbeard EL, White K, Mehrotra R, LaPage J, Dickson P, Adler SG, Iyengar SK.

Nephrol Dial Transplant. 2014 Dec;29(12):2235-43. doi: 10.1093/ndt/gfu324. Epub 2014 Nov 5.

16.

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
17.

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.

Araya K, Fukumoto S, Backenroth R, Takeuchi Y, Nakayama K, Ito N, Yoshii N, Yamazaki Y, Yamashita T, Silver J, Igarashi T, Fujita T.

J Clin Endocrinol Metab. 2005 Oct;90(10):5523-7. Epub 2005 Jul 19.

PMID:
16030159
18.

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.

Esapa CT, Head RA, Jeyabalan J, Evans H, Hough TA, Cheeseman MT, McNally EG, Carr AJ, Thomas GP, Brown MA, Croucher PI, Brown SD, Cox RD, Thakker RV.

PLoS One. 2012;7(8):e43205. doi: 10.1371/journal.pone.0043205. Epub 2012 Aug 13.

19.

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B.

Hum Mol Genet. 2005 Feb 1;14(3):385-90. Epub 2004 Dec 8.

PMID:
15590700
20.

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

Olauson H, Krajisnik T, Larsson C, Lindberg B, Larsson TE.

Eur J Endocrinol. 2008 Jun;158(6):929-34. doi: 10.1530/EJE-08-0011. Epub 2008 Mar 5.

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