exostosin glycosyltransferase 1 ; Homo sapiens






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1 9756849 The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem 1998 Oct 9 1
2 10529789 New perspectives on the molecular basis of hereditary bone tumours. Mol Med Today 1999 Nov 1
3 10545594 A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet 1999 Nov 3
4 10639137 The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A 2000 Jan 18 2
5 11121397 rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate. J Biol Chem 2001 Feb 16 5
6 11170095 Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet 2001 Feb 15 4
7 11390981 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. Proc Natl Acad Sci U S A 2001 Jun 19 4
8 11391482 Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet 2001 Jul 5
9 11432960 Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001 Jul 1
10 11461073 A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis. Br J Cancer 2001 Jul 20 2
11 12032595 Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J Hum Genet 2002 2
12 12110435 Heparan sulfate abnormalities in exostosis growth plates. Bone 2002 Jul 2
13 12417417 Hereditary multiple exostoses and heparan sulfate polymerization. Biochim Biophys Acta 2002 Dec 19 2
14 12796152 Exercise training improves exertional dyspnea in patients with COPD: evidence of the role of mechanical factors. Chest 2003 Jun 4
15 12907685 In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction. J Biol Chem 2003 Oct 24 8
16 14605369 Mammalian brain morphogenesis and midline axon guidance require heparan sulfate. Science 2003 Nov 7 1
17 15177029 Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev Cell 2004 Jun 5
18 15372456 Genome-wide profiling of oral squamous cell carcinoma. J Pathol 2004 Nov 1
19 15385438 Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells. Hum Mol Genet 2004 Nov 15 4
20 15985493 A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. J Clin Endocrinol Metab 2005 Sep 1
21 16026543 Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. Differentiation 2005 Jun 3
22 16283885 An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. Clin Genet 2005 Dec 1
23 16622899 EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. J Pathol 2006 Jul 1
24 17237233 Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis. J Biol Chem 2007 Mar 16 3
25 17301954 A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer 2007 May 1
26 17442818 Netrin-1/DCC signaling in commissural axon guidance requires cell-autonomous expression of heparan sulfate. J Neurosci 2007 Apr 18 1
27 17610078 Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu. Dev Genes Evol 2007 Aug 5
28 17761672 Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. J Biol Chem 2007 Nov 9 5
29 18216313 Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. J Am Soc Nephrol 2008 Mar 1
30 18337501 Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation. Proc Natl Acad Sci U S A 2008 Mar 25 4
31 18626493 Glomerular filtration: the charge debate charges ahead. Kidney Int 2008 Aug 1
32 18955118 Functional interrelations between nucleus raphé dorsalis and nucleus raphé medianus: a dual probe microdialysis study of glutamate-stimulated serotonin release. Brain Res Bull 2009 Mar 16 6
33 19839753 Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. Genet Test Mol Biomarkers 2009 Dec 2
34 19965677 Targeting EXT1 reveals a crucial role for heparan sulfate in the growth of multiple myeloma. Blood 2010 Jan 21 1
35 20233912 Rufinamide: a new antiepileptic medication for the treatment of seizures associated with lennox-gastaut syndrome. Ann Pharmacother 2010 Apr 3
36 20377530 Biosynthesis of heparan sulfate in EXT1-deficient cells. Biochem J 2010 May 27 10
37 20387539 [Exploration of the molecular mechanism of ocular development and the creation of animal models for ocular diseases]. Nippon Ganka Gakkai Zasshi 2010 Mar 3
38 20566323 Structural identification of recombinant human CD83 mutant variant as a potent therapeutic protein. Protein Expr Purif 2010 Oct 1
39 20807644 Roles of heparan sulfate in mammalian brain development current views based on the findings from Ext1 conditional knockout studies. Prog Mol Biol Transl Sci 2010 1
40 20813973 No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. Am J Pathol 2010 Oct 2
41 20872591 A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas. J Orthop Res 2010 Nov 2
42 21280143 Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat 2011 Feb 1
43 21586278 Stage-dependent regulation of mammary ductal branching by heparan sulfate and HGF-cMet signaling. Dev Biol 2011 Jul 15 1
44 21703028 Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet 2011 Jun 26 1
45 21956842 Epiphyseal growth plate and secondary peripheral chondrosarcoma: the neighbours matter. J Pathol 2012 Jan 1
46 22025563 Selectin ligand sialyl-Lewis x antigen drives metastasis of hormone-dependent breast cancers. Cancer Res 2011 Dec 15 1
47 22037484 Identification and functional characterization of the human EXT1 promoter region. Gene 2012 Jan 15 1
48 22040554 Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas. Chin Med J (Engl) 2011 Oct 1
49 22848466 Fibroblast EXT1-levels influence tumor cell proliferation and migration in composite spheroids. PLoS One 2012 2
50 23083943 Effectiveness and tolerability of rufinamide in children and young adults with Lennox-Gastaut syndrome: a single center study in Korea. Clin Neurol Neurosurg 2013 Jul 4