Citations for
1EXT1, EXT2
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.
Li Y, Wang D, Wang W, Wang J, Li H, Wang J, Wang X, Fu Q.
Genet Test Mol Biomarkers 13(6):825-30.PMID: 19839753 2009
2EXT1, EXT2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.
Ann Hum Genet 73(Pt 3):283-91. Epub 2009 Mar 25.PMID: 19344451 2009
3CDSM, EXT1
Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma.
Schrage YM, Hameetman L, Szuhai K, Cleton-Jansen AM, Taminiau AH, Hogendoorn PC, Bovée JV.
Am J Pathol 174(3):979-88. Epub 2009 Jan 29.PMID: 19179614 2009
4EXT1, EXT2, NDST1
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
Presto J, Thuveson M, Carlsson P, Busse M, WilŽn M, Eriksson I, Kusche-Gullberg M, KjellŽn L.
Proc Natl Acad Sci U S A 105(12):4751-6. Epub 2008 Mar 12. 2008
5TRPS2, EXT1
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.
McBrien J, Crolla JA, Huang S, Kelleher J, Gleeson J, Lynch SA.
Am J Med Genet A 146A(12):1587-92. 2008
6EXT1
Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
Roberts IS, Gleadle JM.
J Am Soc Nephrol 19(3):450-3. Epub 2008 Jan 23.PMID: 18216313 2008
7EXT1, EXT2, EXTL3
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M.
J Biol Chem 282(45):32802-10. Epub 2007 Aug 29.PMID: 17761672 2007
8EXT1, EXT2
The genotype-phenotype correlation of hereditary multiple exostoses.
Alvarez C, Tredwell S, De Vera M, Hayden M.
Clin Genet 70(2):122-30. 2006
9EXT1, IHH
EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development.
Hilton MJ, Gutierrez L, Martinez DA, Wells DE.
Bone 36(3):379-86. 2005
10EXT1
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.
Ropero S, Setien F, Espada J, Fraga MF, Herranz M, Asp J, Benassi MS, Franchi A, Patino A, Ward LS, Bovee J, Cigudosa JC, Wim W, Esteller M.
Hum Mol Genet 13(22):2753-65. Epub 2004 Sep 22. 2004
11EXT1
Mammalian brain morphogenesis and midline axon guidance require heparan sulfate.
Inatani M, Irie F, Plump AS, Tessier-Lavigne M, Yamaguchi Y.
Science 302(5647):1044-6. 2003
12CDKN2A, DLC1, EXT1, MLH1, PTEN, RB1, TP53, TP73
Molecular pathogenesis of human hepatocellular carcinoma.
Thorgeirsson SS, Grisham JW.
Nat Genet 31(4):339-46. 2002
13EXT1, EXT2
Hereditary multiple exostoses and heparan sulfate polymerization.
Zak BM, Crawford BE, Esko JD.
Biochim Biophys Acta 1573(3):346-55. Review. 2002
14EXT1
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L.
J Med Genet 38(7):430-4. 2001
15EXT1, EXT2, EXTL1, EXTL2, EXTL3
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.
Kim BT, Kitagawa H, Tamura J, Saito T, Kusche-Gullberg M, Lindahl U, Sugahara K.
Proc Natl Acad Sci U S A 98(13):7176-81. 2001
16EXT1
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G.
Am J Hum Genet 69(1):55-66. 2001
17EXT1, EXT2
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W, Van Hul W.
Hum Mutat 15(3):220-7. 2000
18EXT1, EXT2
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.
Bernard MA, Hogue DA, Cole WG, Sanford T, Snuggs MB, Montufar-Solis D, Duke PJ, Carson DD, Scott A, Van Winkle WB, Hecht JT.
J Bone Miner Res 15(3):442-50. 2000
19EXT1
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.
Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet JF, Delezoide AL, Munnich A, Bonaventure J, Zylberberg L.
J Bone Miner Res 15(8):1489-500. 2000
20EXT1, EXT2
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.
McCormick C, Duncan G, Goutsos KT, Tufaro F.
Proc Natl Acad Sci U S A 97(2):668-73. 2000
21EXT1, EXT2
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.
Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T.
Biochem Biophys Res Commun 268(3):860-7. 2000
22EXT1, EXT2
The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis.
Senay C, Lind T, Muguruma K, Tone Y, Kitagawa H, Sugahara K, Lidholt K, Lindahl U, Kusche-Gullberg M.
EMBO Rep 1(3):282-6. 2000
23EXT1, EXT2, EXTL3, EXTL1
Mutation analysis of hereditary multiple exostoses in the Chinese.
Xu L, et al.
Hum Genet 105(1-2):45-50. 1999
24TSG8C, EXT1
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.
Bovee JV, et al.
Am J Hum Genet 65(3):689-98 1999
25EXT1, EXT2, GALNT5, TRAP1
A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.
Simmons AD, et al.
Hum Mol Genet 8(12):2155-2164 1999
26EXT1, EXT2
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Raskind WH, Conrad EU 3rd, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J.
Hum Mutat 11(3):231-9. 1998
27EXT1, EXT2
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Ludecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ.
Am J Hum Genet 62(2):346-54. 1998
28EXT1
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.
McCormick C, et al.
Nat Genet 19 : 158-161. 1998
29EXT1, EXT2
The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.
Lind T, et al.
J Biol Chem 273 : 26265-26268. 1998
30EXT1
Hereditary multiple exostoses (EXT) : mutational studies of familial EXT1 cases and EXT-associated malignancies.
Hecht JT, et al.
Am J Hum Genet 60 : 80-86. 1997
31EXT1, EXT2, EXT3
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
Legeai-Mallet L, et al.
Hum Genet 99 : 298-302. 1997
32EXT1
Genomic organization and promoter structure of the human EXT1 gene.
LŸdecke HJ, et al.
Genomics 40 : 351-354. 1997
33EXT1
Identification of novel mutations in the human EXT1 tumor suppressor gene.
Wells DE, Hill A, Lin X, Ahn J, Brown N, Wagner MJ.
Hum Genet 99(5):612-5. 1997
34EXT1, EXT2
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.
Am J Hum Genet 61(3):520-8. 1997
35EXT1
A premature termination codon in the EXT1 gene is associated to inappropriate production of cartilagineous and bone tissues in the exostosis. (abstr)
Zylberberg L, et al.
Am J Hum Genet 61 : A353. 1997
36EXT1, EXT2
Hereditary multiple exostoses : confirmation of linkage to chromosomes 8and 11.
Halloran Blanton S, et al.
Am J Med Genet 62 : 150-159. 1996
37EXT1, TRPS1, TRPS2
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).
Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al.
Genomics 29 : 87-97. 1995
38EXT1, TSG8C
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
Ahn J, et al.
Nat Genet 11 : 137-143. 1995
39EXT1, EXT2, TSG11G, TSG8C
Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.
Raskind WH, et al.
Am J Hum Genet 56 : 1132-1139. 1995
40EXT1, EXT2, TSG11G, TSG8C
Hereditary multiple exostosis and chondrosarcoma : linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.
Hecht JT, et al.
Am J Hum Genet 56 : 1125-1131. 1995
41TRPS2, TRPS1, EXT1
Molecular dissection of a contiguous gene syndrome : localization of the genes involved in the Langer-Giedion syndrome.
LŸdecke HJ, et al.
Hum Mol Genet 4 : 31-36. 1995
42CDSM, EXT1
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M.
Am J Hum Genet 56(5):1125-31. 1995
43EXT1
Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses.
Yoshiura KI, et al.
Genes Chromosomes Cancer 9 : 57-61. 1994
44EXT1
Loss of chromosome band 8q24 in sporadic osteocartilaginous exostoses.
Mertens F, et al.
Genes Chromosomes Cancer 9 : 8-12. 1994
45EXT1
Genetic heterogeneity in families with hereditary multiple exostoses.
Cook A, et al.
Am J Hum Genet 53 : 71-79. 1993
46TRPS2, EXT1
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Le Merrer M, et al.
J Med Genet 29 : 713-715. 1992
47TRPS2, EXT1
Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
Ogle RF, et al.
J Med Genet 28 : 881-883. 1991