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Items: 1 to 20 of 103

1.

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.

2.

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.

3.

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.

4.

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.

5.

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
6.

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.

7.

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.

8.

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
10.

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.

11.

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.

Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H.

J Biol Chem. 2006 Jul 7;281(27):18370-7. Epub 2006 Apr 25.

12.

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
13.

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.

Esapa CT, Hannan FM, Babinsky VN, Potter P, Thomas GP, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

PLoS One. 2015 Apr 10;10(4):e0122650. doi: 10.1371/journal.pone.0122650. eCollection 2015.

14.

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):759-64. Epub 2006 Aug 24.

15.

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
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.

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E.

Nat Genet. 2004 Jun;36(6):579-81. Epub 2004 May 9.

PMID:
15133511
18.

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.

19.

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

Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ.

J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9. No abstract available.

20.

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
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