| 1 | EXT1, EXT2
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| Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.
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| Li Y, Wang D, Wang W, Wang J, Li H, Wang J, Wang X, Fu Q.
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| Genet Test Mol Biomarkers 13(6):825-30.PMID: 19839753 2009
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| 2 | EXT1, EXT2
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| New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
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| Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.
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| Ann Hum Genet 73(Pt 3):283-91. Epub 2009 Mar 25.PMID: 19344451 2009
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| 3 | EXT1, EXT2, NDST1
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| Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
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| Presto J, Thuveson M, Carlsson P, Busse M, Wiln M, Eriksson I, Kusche-Gullberg M, Kjelln L.
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| Proc Natl Acad Sci U S A 105(12):4751-6. Epub 2008 Mar 12. 2008
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| 4 | ACOT2, AFAP1L1, ALG11, ANKS1A, ARMC6, ARPC1A, ARPC3, ARPC5L, ATG10, ATP5L, BAZ1A, BCAS2, C2orf44, CAPZA1, CAPZA2, CCDC47, CERS2, CMBL, CPSF2, CSTF3, CXorf56, EXT2, FAF2, FBXO4, FIBP, GLRX3, GPS1, GSKIP, INPP5K, KPNA4, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT36, LUC7L2, MAGED1, MED7, MMS22L, MPRIP, MPRIP, MRCL3, NAA25, NDN, NPEPPS, NRDE2, OLA1, ORCTL3, OSTF1, PH4B, PIP5K1B, PKIG, PMVK, PSMC1, PSMC2, PSPH, RAB11FIP1, RBX1, RNF219, RO60, RPS14, SF3B14, SF3B2, SFRS12, STK25, TLK2, TONSL, TPM3, TRMT112, TSPAN17, TWF2, UBE2M, UNC45A, UQCRC1, WRAP73, XPO7, ZRANB2
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| Large-scale mapping of human protein-protein interactions by mass spectrometry.
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| Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D.
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| Mol Syst Biol 3:89. Epub 2007 Mar 13. 2007
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| 5 | ALX4, DEL11PP, EXT2
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| Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.
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| Romeike BF, Wuyts W.
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| Clin Neuropathol 26(1):1-11. Review. 2007
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| 6 | EXT1, EXT2, EXTL3
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| Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
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| Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M.
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| J Biol Chem 282(45):32802-10. Epub 2007 Aug 29.PMID: 17761672 2007
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| 7 | EXT1, EXT2
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| The genotype-phenotype correlation of hereditary multiple exostoses.
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| Alvarez C, Tredwell S, De Vera M, Hayden M.
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| Clin Genet 70(2):122-30. 2006
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| 8 | ALX4, DEL11PP, EXT2
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| Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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| Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.
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| Eur J Hum Genet 13(5):528-40. 2005
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| 9 | ALX4, DEL11PP, EXT2
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| Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
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| Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O.
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| Eur J Hum Genet 12(5):400-6. Review. 2004
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| 10 | EXT1, EXT2
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| Hereditary multiple exostoses and heparan sulfate polymerization.
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| Zak BM, Crawford BE, Esko JD.
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| Biochim Biophys Acta 1573(3):346-55. Review. 2002
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| 11 | EXT1, EXT2, EXTL1, EXTL2, EXTL3
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| 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.
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| Kim BT, Kitagawa H, Tamura J, Saito T, Kusche-Gullberg M, Lindahl U, Sugahara K.
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| Proc Natl Acad Sci U S A 98(13):7176-81. 2001
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| 12 | ALX4, DEL11PP, EXT2
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| Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
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| Hall CR, Wu Y, Shaffer LG, Hecht JT.
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| Clin Genet 60 : 356-359. 2001
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| 13 | EXT1, EXT2
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| Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
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| Wuyts W, Van Hul W.
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| Hum Mutat 15(3):220-7. 2000
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| 14 | EXT1, EXT2
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| Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.
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| Bernard MA, Hogue DA, Cole WG, Sanford T, Snuggs MB, Montufar-Solis D, Duke PJ, Carson DD, Scott A, Van Winkle WB, Hecht JT.
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| J Bone Miner Res 15(3):442-50. 2000
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| 15 | EXT1, EXT2
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| The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.
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| McCormick C, Duncan G, Goutsos KT, Tufaro F.
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| Proc Natl Acad Sci U S A 97(2):668-73. 2000
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| 16 | EXT1, EXT2
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| Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.
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| Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T.
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| Biochem Biophys Res Commun 268(3):860-7. 2000
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| 17 | EXT1, EXT2
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| The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis.
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| Senay C, Lind T, Muguruma K, Tone Y, Kitagawa H, Sugahara K, Lidholt K, Lindahl U, Kusche-Gullberg M.
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| EMBO Rep 1(3):282-6. 2000
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| 18 | EXT1, EXT2, EXTL3, EXTL1
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| Mutation analysis of hereditary multiple exostoses in the Chinese.
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| Xu L, et al.
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| Hum Genet 105(1-2):45-50. 1999
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| 19 | EXT1, EXT2, GALNT5, TRAP1
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| A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.
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| Simmons AD, et al.
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| Hum Mol Genet 8(12):2155-2164 1999
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| 20 | DEL11PP, EXT2
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| Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.
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| Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA.
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| Am J med Genet 75(5):538-40. 1998
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| 21 | EXT1, EXT2
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| Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
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| Raskind WH, Conrad EU 3rd, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J.
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| Hum Mutat 11(3):231-9. 1998
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| 22 | EXT1, EXT2
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| Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
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| 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.
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| Am J Hum Genet 62(2):346-54. 1998
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| 23 | EXT1, EXT2
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| The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.
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| Lind T, et al.
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| J Biol Chem 273 : 26265-26268. 1998
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| 24 | EXT1, EXT2, EXT3
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| An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
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| Legeai-Mallet L, et al.
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| Hum Genet 99 : 298-302. 1997
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| 25 | EXT1, EXT2
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| Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
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| Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.
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| Am J Hum Genet 61(3):520-8. 1997
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| 26 | EXT2
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| Cloning and mutation analysis of the gene responsible for hereditary multiple exostoses II. (abstr)
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| Deng HX, et al.
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| Am J Hum Genet 61 : A331. 1997
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| 27 | D11S903, EXT2
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| The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.
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| Clines GA, Ashley JA, Shah S, Lovett M.
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| Genome Res 7(4):359-67. 1997
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| 28 | DEL11PP, EXT2, PFM1
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| Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11.
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| Bartsch O, et al.
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| Am J Hum Genet 58 : 734-742. 1996
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| 29 | EXT1, EXT2
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| Hereditary multiple exostoses : confirmation of linkage to chromosomes 8and 11.
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| Halloran Blanton S, et al.
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| Am J Med Genet 62 : 150-159. 1996
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| 30 | EXT2
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| Interstitial deletion of 11 (p11.2p12) : a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
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| Potocki L, et al.
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| Am J Med Genet 62 : 319-325. 1996
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| 31 | D11S903, EXT2, TSG11G
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| The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
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| Stickens D, et al.
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| Nat Genet 14 : 25-32. 1996
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| 32 | EXT2, TSG11G
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| Positional cloning of a gene involved in hereditary multiple exostoses.
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| Wuyts W, et al.
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| Hum Mol Genet 5 : 1547-1557. 1996
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| 33 | WAGR, EXT2
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| WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).
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| McGaughran JM, et al.
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| J Med Genet 32 : 823-824. 1995
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| 34 | EXT1, EXT2, TSG11G, TSG8C
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| Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.
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| Raskind WH, et al.
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| Am J Hum Genet 56 : 1132-1139. 1995
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| 35 | EXT1, EXT2, TSG11G, TSG8C
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| Hereditary multiple exostosis and chondrosarcoma : linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8.
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| Hecht JT, et al.
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| Am J Hum Genet 56 : 1125-1131. 1995
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| 36 | EXT2
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| Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
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| Wuyts W, et al.
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| Am J Hum Genet 57 : 382-387. 1995
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| 37 | EXT2
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| Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
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| Wu YQ, et al.
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| Hum Mol Genet 3 : 167-171. 1994
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