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Results: 1 to 20 of 114

1.

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.

PMID:
22912827
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
19213845
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
18322299
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
18982401
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
18976705
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E.

J Mol Med (Berl). 2005 Jan;83(1):33-8. Epub 2004 Dec 15. Erratum in: J Mol Med. 2005 Mar;83(3):240.

PMID:
15599692
[PubMed - indexed for MEDLINE]
10.

Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.

Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S.

J Bone Miner Res. 2007 Feb;22(2):235-42.

PMID:
17129170
[PubMed - indexed for MEDLINE]
11.

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

Joseph L, Hing SN, Presneau N, O'Donnell P, Diss T, Idowu BD, Joseph S, Flanagan AM, Delaney D.

Skeletal Radiol. 2010 Jan;39(1):63-8. doi: 10.1007/s00256-009-0808-5. Epub 2009 Oct 15.

PMID:
19830424
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
20358599
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS).

Abbasi F, Ghafouri-Fard S, Javaheri M, Dideban A, Ebrahimi A, Ebrahim-Habibi A.

Gene. 2014 Jun 1;542(2):269-71. doi: 10.1016/j.gene.2014.03.052. Epub 2014 Mar 27.

PMID:
24680727
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Ichikawa S, Austin AM, Gray AK, Allen MR, Econs MJ.

Endocrinology. 2011 Dec;152(12):4504-13. doi: 10.1210/en.2011-1137. Epub 2011 Oct 18.

PMID:
22009723
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Benet-Pag├Ęs A, Orlik P, Strom TM, Lorenz-Depiereux B.

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

PMID:
15590700
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
19865099
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]
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