1 | EXTL3, NISDS
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| Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
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| Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJ, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.
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| Am J Hum Genet 100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013.
2017
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2 | EXTL3, REG1A
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| Regenerating islet-derived 1α (Reg-1α) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
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| Acquatella-Tran Van Ba I, Marchal S, François F, Silhol M, Lleres C, Michel B, Benyamin Y, Verdier JM, Trousse F, Marcilhac A.
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| J Biol Chem 287(7):4726-39. doi: 10.1074/jbc.M111.260349. Epub 2011 Dec 9.
2012
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3 | EXTL2, EXTL3
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| Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
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| Kaidonis X, Liaw WC, Roberts AD, Ly M, Anson D, Byers S.
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| Eur J Hum Genet 18(2):194-9. doi: 10.1038/ejhg.2009.143. Epub 2009 Aug 19.
2010
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4 | EXTL3
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| EXTL3 promoter methylation down-regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers.
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| Karibe T, Fukui H, Sekikawa A, Shiratori K, Fujimori T.
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| J Pathol 216(1):32-42. doi: 10.1002/path.2377.
2008
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5 | EXT1, EXT2, EXTL3
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| Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
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| Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M.
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| J Biol Chem 282(45):32802-10. Epub 2007 Aug 29.PMID: 17761672 2007
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6 | EXTL3
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| Dysregulation of Reg gene expression occurs early in gastrointestinal tumorigenesis and regulates anti-apoptotic genes.
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| Bishnupuri KS, Luo Q, Korzenik JR, Henderson JO, Houchen CW, Anant S, Dieckgraefe BK.
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| Cancer Biol Ther 5(12):1714-20. Epub 2006 Dec 30. 2006
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7 | EXTL3
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| HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development.
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| Norton WH, Ledin J, Grandel H, Neumann CJ.
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| Development 132(22):4963-73. Epub 2005 Oct 12.
2005
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8 | EXTL3
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| Glycosyltransferase encoding gene EXTL3 is differentially expressed in the developing and adult mouse cerebral cortex.
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| Osman NM, Naora H, Otani H.
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| Brain Res Dev Brain Res 151(1-2):111-7.
2004
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9 | EXTL3
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| Demonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation.
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| Kim BT, Kitagawa H, Tamura Ji J, Kusche-Gullberg M, Lindahl U, Sugahara K.
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| J Biol Chem 277(16):13659-65. Epub 2002 Feb 6. 2002
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10 | EXT1, EXT2, EXTL1, EXTL2, EXTL3
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| Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.
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| Kim BT, Kitagawa H, Tamura J, Saito T, Kusche-Gullberg M, Lindahl U, Sugahara K.
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| Proc Natl Acad Sci U S A 98(13):7176-81. 2001
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11 | EXTL3, REG1A
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| Identification of a receptor for reg (regenerating gene) protein, a pancreatic beta-cell regeneration factor.
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| Kobayashi S, Akiyama T, Nata K, Abe M, Tajima M, Shervani NJ, Unno M, Matsuno S, Sasaki H, Takasawa S, Okamoto H.
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| J Biol Chem 275(15):10723-6. 2000
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12 | EXT1, EXT2, EXTL3, EXTL1
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| Mutation analysis of hereditary multiple exostoses in the Chinese.
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| Xu L, et al.
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| Hum Genet 105(1-2):45-50. 1999
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13 | EXTL3, TSG8D
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| Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
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| Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ.
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| Genomics 47(2):230-7. 1998
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14 | EXTL3
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| Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.
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| Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T.
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| Biochem Biophys Res Commun 243(1):61-6. 1998
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15 | EXTL1, EXTL2, EXTL3
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| Identification of a new family of EXT-related genes. (abstr)
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| Wuyts W, et al.
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| Am J Hum Genet 61 : A351. 1997
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