EXT1
EXT1 (Exostosin glycosyltransferase 1) هوَ بروتين يُشَفر بواسطة جين EXT1 في الإنسان.[1][1]
الوظيفة
المراجع
- "Entrez Gene: EXT1 exostoses (multiple) 1"، مؤرشف من الأصل في 05 ديسمبر 2010.
قراءة متعمقة
- "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."، Hum. Mutat.، 15 (3): 220–7، 2000، doi:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K، PMID 10679937.
- "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins."، J. Clin. Invest.، 108 (4): 511–6، 2001، doi:10.1172/JCI13737، PMC 209410، PMID 11518722.
- "Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)."، J. Med. Genet.، 28 (12): 881–3، 1992، doi:10.1136/jmg.28.12.881، PMC 1017169، PMID 1757967.
- "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)."، Nat. Genet.، 11 (2): 137–43، 1995، doi:10.1038/ng1095-137، PMID 7550340.
- "Genetic heterogeneity in families with hereditary multiple exostoses."، Am. J. Hum. Genet.، 53 (1): 71–9، 1993، PMC 1682231، PMID 8317501.
- "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، 29 (1): 87–97، 1996، doi:10.1006/geno.1995.1218، PMID 8530105.
- "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies."، Am. J. Hum. Genet.، 60 (1): 80–6، 1997، PMC 1712567، PMID 8981950.
- "Genomic organization and promoter structure of the human EXT1 gene."، Genomics، 40 (2): 351–4، 1997، doi:10.1006/geno.1996.4577، PMID 9119404.
- "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses."، Am. J. Hum. Genet.، 61 (3): 520–8، 1997، doi:10.1086/515505، PMC 1715939، PMID 9326317.
- "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses."، Am. J. Hum. Genet.، 62 (2): 346–54، 1998، doi:10.1086/301726، PMC 1376901، PMID 9463333.
- "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses."، Hum. Mutat.، 11 (3): 231–9، 1998، doi:10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K، PMID 9521425.
- "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate."، Nat. Genet.، 19 (2): 158–61، 1998، doi:10.1038/514، PMID 9620772.
- "Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene."، Biochem. Biophys. Res. Commun.، 248 (3): 738–43، 1998، doi:10.1006/bbrc.1998.9050، PMID 9703997.
- "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate."، J. Biol. Chem.، 273 (41): 26265–8، 1998، doi:10.1074/jbc.273.41.26265، PMID 9756849.
- "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas."، Am. J. Hum. Genet.، 65 (3): 689–98، 1999، doi:10.1086/302532، PMC 1377975، PMID 10441575.
- "Mutation analysis of hereditary multiple exostoses in the Chinese."، Hum. Genet.، 105 (1–2): 45–50، 1999، doi:10.1007/s004390051062، PMID 10480354.
- "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses."، Hum. Mol. Genet.، 8 (12): 2155–64، 1999، doi:10.1093/hmg/8.12.2155، PMID 10545594.
- "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.، 97 (2): 668–73، 2000، Bibcode:2000PNAS...97..668M، doi:10.1073/pnas.97.2.668، PMC 15388، PMID 10639137.
- "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus."، Biochem. Biophys. Res. Commun.، 268 (3): 860–7، 2000، doi:10.1006/bbrc.2000.2219، PMID 10679296.
بوابة طب
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
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