1 | GALNT1, GALNT10, GALNT11, GALNT12, GALNT13, GALNT14, GALNT2, GALNT3, GALNT4, GALNT5, GALNT6, GALNT7, GALNT8, GALNT8, GALNT9, GALNTL1, GALNTL2, GALNTL4, GALNTL5, GALNTL6, WBSCR17
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| Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.
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| 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.
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| Biochem Biophys Res Commun 402(4):680-6. Epub 2010 Oct 25.
2010
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2 | AIRE, 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
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| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
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| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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3 | FTC1,GALNT3
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| Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.
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| Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P.
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| J Hum Genet 52(5):464-8. Epub 2007 Mar 10. 2007
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4 | FTC1,GALNT3
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| Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
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| Ichikawa S, Guigonis V, Imel EA, Courouble M, Heissat S, Henley JD, Sorenson AH, Petit B, Lienhardt A, Econs MJ.
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| J Clin Endocrinol Metab 92(5):1943-7. Epub 2007 Feb 20. 2007
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5 | GALNT3, FTC1
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| Two novel GALNT3 mutations in familial tumoral calcinosis.
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| Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE.
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| Am J Med Genet A 143(20):2390-6. 2007
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6 | FTC1, GALNT3
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| Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.
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| Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ.
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| J Clin Endocrinol Metab 91(11):4472-5. Epub 2006 Aug 29.
2006
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7 | FGF23, FTC2, FTC1, GALNT3
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| An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
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| Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B.
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| Hum Mol Genet 14(3):385-90. Epub 2004 Dec 08. 2005
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8 | GALNT3, FTC1
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| Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
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| Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E.
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| J Mol Med 83(1):33-8. Epub 2004 Dec 15. Erratum in: J Mol Med. 2005 Mar;83(3):240. 2005
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9 | GALNT3, FTC1
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| A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
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| Ichikawa S, Lyles KW, Econs MJ.
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| J Clin Endocrinol Metab 90(4):2420-3. Epub 2005 Feb 1. 2005
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10 | FTC1, GALNT3
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| Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
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| 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.
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| Nat Genet 36(6):579-81. Epub 2004 May 9. 2004
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11 | GALNT1, GALNT2, GALNT3
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| Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine : polypeptide N-acetylgalactosaminyltransferase family.
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| Bennett EP, et al.
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| Glycobiology 8 : 547-555. 1998
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12 | GALNT1, GALNT2, GALNT3
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| Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3.
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| Wandall HH, Hassan H, Mirgorodskaya E, Kristensen AK, Roepstorff P, Bennett EP, Nielsen PA, Hollingsworth MA, Burchell J, Taylor-Papadimitriou J, Clausen H.
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| J Biol Chem 272(38):23503-14. 1997
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