Citations for
1GALNT1, GALNT10, GALNT11, GALNT12, GALNT13, GALNT14, GALNT2, GALNT3, GALNT4, GALNT5, GALNT6, GALNT7, GALNT8, GALNT8, GALNT9, GALNTL1, GALNTL2, GALNTL4, GALNTL5, GALNTL6, WBSCR17
Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.
Peng C, Togayachi A, Kwon YD, Xie C, Wu G, Zou X, Sato T, Ito H, Tachibana K, Kubota T, Noce T, Narimatsu H, Zhang Y.
Biochem Biophys Res Commun 402(4):680-6. Epub 2010 Oct 25. 2010
2AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
3FTC1,GALNT3
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.
Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P.
J Hum Genet 52(5):464-8. Epub 2007 Mar 10. 2007
4FTC1,GALNT3
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 92(5):1943-7. Epub 2007 Feb 20. 2007
5GALNT3, FTC1
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 143(20):2390-6. 2007
6FTC1, GALNT3
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 91(11):4472-5. Epub 2006 Aug 29. 2006
7FGF23, FTC2, FTC1, GALNT3
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B.
Hum Mol Genet 14(3):385-90. Epub 2004 Dec 08. 2005
8GALNT3, FTC1
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 83(1):33-8. Epub 2004 Dec 15. Erratum in: J Mol Med. 2005 Mar;83(3):240. 2005
9GALNT3, FTC1
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 90(4):2420-3. Epub 2005 Feb 1. 2005
10FTC1, GALNT3
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 36(6):579-81. Epub 2004 May 9. 2004
11GALNT1, GALNT2, GALNT3
Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine : polypeptide N-acetylgalactosaminyltransferase family.
Bennett EP, et al.
Glycobiology 8 : 547-555. 1998
12GALNT1, GALNT2, GALNT3
Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3.
Wandall HH, Hassan H, Mirgorodskaya E, Kristensen AK, Roepstorff P, Bennett EP, Nielsen PA, Hollingsworth MA, Burchell J, Taylor-Papadimitriou J, Clausen H.
J Biol Chem 272(38):23503-14. 1997