EXT1

An Error has occured retrieving Wikidata item for infobox EXT1‏ (Exostosin glycosyltransferase 1) هوَ بروتين يُشَفر بواسطة جين EXT1 في الإنسان.

قراءة متعمقة

• Wuyts W، Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes". Hum. Mutat. ج. 15 ع. 3: 220–7. DOI:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K. PMID:10679937.
• Duncan G، McCormick C، Tufaro F (2001). "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins". J. Clin. Invest. ج. 108 ع. 4: 511–6. DOI:10.1172/JCI13737. PMC:209410. PMID:11518722.
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• Hou J، Parrish J، Lüdecke HJ، وآخرون (1996). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. ج. 29 ع. 1: 87–97. DOI:10.1006/geno.1995.1218. PMID:8530105.
• Hecht JT، Hogue D، Wang Y، وآخرون (1997). "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies". Am. J. Hum. Genet. ج. 60 ع. 1: 80–6. PMC:1712567. PMID:8981950.
• Lüdecke HJ، Ahn J، Lin X، وآخرون (1997). "Genomic organization and promoter structure of the human EXT1 gene". Genomics. ج. 40 ع. 2: 351–4. DOI:10.1006/geno.1996.4577. PMID:9119404.
• Philippe C، Porter DE، Emerton ME، وآخرون (1997). "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses". Am. J. Hum. Genet. ج. 61 ع. 3: 520–8. DOI:10.1086/515505. PMC:1715939. PMID:9326317.
• Wuyts W، Van Hul W، De Boulle K، وآخرون (1998). "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses". Am. J. Hum. Genet. ج. 62 ع. 2: 346–54. DOI:10.1086/301726. PMC:1376901. PMID:9463333.
• Raskind WH، Conrad EU، Matsushita M، وآخرون (1998). "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses". Hum. Mutat. ج. 11 ع. 3: 231–9. DOI:10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K. PMID:9521425.
• McCormick C، Leduc Y، Martindale D، وآخرون (1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate". Nat. Genet. ج. 19 ع. 2: 158–61. DOI:10.1038/514. PMID:9620772.
• Lin X، Gan L، Klein WH، Wells D (1998). "Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene". Biochem. Biophys. Res. Commun. ج. 248 ع. 3: 738–43. DOI:10.1006/bbrc.1998.9050. PMID:9703997.
• Lind T، Tufaro F، McCormick C، وآخرون (1998). "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate". J. Biol. Chem. ج. 273 ع. 41: 26265–8. DOI:10.1074/jbc.273.41.26265. PMID:9756849.
• Bovée JV، Cleton-Jansen AM، Wuyts W، وآخرون (1999). "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas". Am. J. Hum. Genet. ج. 65 ع. 3: 689–98. DOI:10.1086/302532. PMC:1377975. PMID:10441575.
• Xu L، Xia J، Jiang H، وآخرون (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. ج. 105 ع. 1–2: 45–50. DOI:10.1007/s004390051062. PMID:10480354.
• Simmons AD، Musy MM، Lopes CS، وآخرون (1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ج. 8 ع. 12: 2155–64. DOI:10.1093/hmg/8.12.2155. PMID:10545594.
• McCormick C، Duncan G، Goutsos KT، Tufaro F (2000). "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. ج. 97 ع. 2: 668–73. Bibcode:2000PNAS...97..668M. DOI:10.1073/pnas.97.2.668. PMC:15388. PMID:10639137.
• Kobayashi S، Morimoto K، Shimizu T، وآخرون (2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus". Biochem. Biophys. Res. Commun. ج. 268 ع. 3: 860–7. DOI:10.1006/bbrc.2000.2219. PMID:10679296.