EXT1

EXT1

Exostoses (multiple) 1, also known as EXT1, is a human gene.cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.cite web | title = Entrez Gene: EXT1 exostoses (multiple) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2131| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Wuyts W, Van Hul W |title=Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 220–7 |year= 2000 |pmid= 10679937 |doi= 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K |doilabel=10.1002/(SICI)1098-1004(200003)15:3220::AID-HUMU23.0.CO;2-K
*cite journal | author=Duncan G, McCormick C, Tufaro F |title=The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. |journal=J. Clin. Invest. |volume=108 |issue= 4 |pages= 511–6 |year= 2001 |pmid= 11518722 |doi=
*cite journal | author=Ogle RF, Dalzell P, Turner G, "et al." |title=Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). |journal=J. Med. Genet. |volume=28 |issue= 12 |pages= 881–3 |year= 1992 |pmid= 1757967 |doi=
*cite journal | author=Ahn J, Lüdecke HJ, Lindow S, "et al." |title=Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). |journal=Nat. Genet. |volume=11 |issue= 2 |pages= 137–43 |year= 1995 |pmid= 7550340 |doi= 10.1038/ng1095-137
*cite journal | author=Cook A, Raskind W, Blanton SH, "et al." |title=Genetic heterogeneity in families with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=53 |issue= 1 |pages= 71–9 |year= 1993 |pmid= 8317501 |doi=
*cite journal | author=Hou J, Parrish J, Lüdecke HJ, "et al." |title=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). |journal=Genomics |volume=29 |issue= 1 |pages= 87–97 |year= 1996 |pmid= 8530105 |doi=
*cite journal | author=Hecht JT, Hogue D, Wang Y, "et al." |title=Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. |journal=Am. J. Hum. Genet. |volume=60 |issue= 1 |pages= 80–6 |year= 1997 |pmid= 8981950 |doi=
*cite journal | author=Lüdecke HJ, Ahn J, Lin X, "et al." |title=Genomic organization and promoter structure of the human EXT1 gene. |journal=Genomics |volume=40 |issue= 2 |pages= 351–4 |year= 1997 |pmid= 9119404 |doi= 10.1006/geno.1996.4577
*cite journal | author=Philippe C, Porter DE, Emerton ME, "et al." |title=Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 520–8 |year= 1997 |pmid= 9326317 |doi=
*cite journal | author=Wuyts W, Van Hul W, De Boulle K, "et al." |title=Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 346–54 |year= 1998 |pmid= 9463333 |doi=
*cite journal | author=Raskind WH, Conrad EU, Matsushita M, "et al." |title=Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. |journal=Hum. Mutat. |volume=11 |issue= 3 |pages= 231–9 |year= 1998 |pmid= 9521425 |doi= 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K |doilabel=10.1002/(SICI)1098-1004(1998)11:3231::AID-HUMU83.0.CO;2-K
*cite journal | author=McCormick C, Leduc Y, Martindale D, "et al." |title=The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 158–61 |year= 1998 |pmid= 9620772 |doi= 10.1038/514
*cite journal | author=Lin X, Gan L, Klein WH, Wells D |title=Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 3 |pages= 738–43 |year= 1998 |pmid= 9703997 |doi= 10.1006/bbrc.1998.9050
*cite journal | author=Lind T, Tufaro F, McCormick C, "et al." |title=The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26265–8 |year= 1998 |pmid= 9756849 |doi=
*cite journal | author=Bovée JV, Cleton-Jansen AM, Wuyts W, "et al." |title=EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. |journal=Am. J. Hum. Genet. |volume=65 |issue= 3 |pages= 689–98 |year= 1999 |pmid= 10441575 |doi=
*cite journal | author=Xu L, Xia J, Jiang H, "et al." |title=Mutation analysis of hereditary multiple exostoses in the Chinese. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 45–50 |year= 1999 |pmid= 10480354 |doi=
*cite journal | author=Simmons AD, Musy MM, Lopes CS, "et al." |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2155–64 |year= 1999 |pmid= 10545594 |doi=
*cite journal | author=McCormick C, Duncan G, Goutsos KT, Tufaro F |title=The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 668–73 |year= 2000 |pmid= 10639137 |doi=
*cite journal | author=Kobayashi S, Morimoto K, Shimizu T, "et al." |title=Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 3 |pages= 860–7 |year= 2000 |pmid= 10679296 |doi= 10.1006/bbrc.2000.2219

External links

* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]

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