메뉴 건너뛰기




Volumn 29, Issue 26, 2010, Pages 3827-3834

Genetic models of osteochondroma onset and neoplastic progression: Evidence for mechanisms alternative to EXT genes inactivation

Author keywords

chondrosarcoma; EXT genes; multiple osteochondroma; mutation screening; solitary osteochondroma; tumor suppressor

Indexed keywords

EXOSTOSIN 1; EXOSTOSIN 2; GLYCOPROTEIN; UNCLASSIFIED DRUG;

EID: 77954232044     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/onc.2010.135     Document Type: Article
Times cited : (38)

References (33)
  • 1
    • 0035144982 scopus 로고    scopus 로고
    • Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes
    • Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB et al. (2001). Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton 48: 149-162.
    • (2001) Cell Motil Cytoskeleton , vol.48 , pp. 149-162
    • Bernard, M.A.1    Hall, C.E.2    Hogue, D.A.3    Cole, W.G.4    Scott, A.5    Snuggs, M.B.6
  • 3
    • 0033362450 scopus 로고    scopus 로고
    • EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas
    • Bovee JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E et al. (1999b). EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet 65: 689-698.
    • (1999) Am J Hum Genet , vol.65 , pp. 689-698
    • Bovee, J.V.1    Cleton-Jansen, A.M.2    Wuyts, W.3    Caethoven, G.4    Taminiau, A.H.5    Bakker, E.6
  • 4
    • 0032080482 scopus 로고    scopus 로고
    • Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas
    • Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR. (1998). Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. Cancer 82: 1657-1663.
    • (1998) Cancer , vol.82 , pp. 1657-1663
    • Bridge, J.A.1    Nelson, M.2    Orndal, C.3    Bhatia, P.4    Neff, J.R.5
  • 5
    • 0034968957 scopus 로고    scopus 로고
    • 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. (2001). Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet 69: 55-66.
    • (2001) Am J Hum Genet , vol.69 , pp. 55-66
    • Cheung, P.K.1    McCormick, C.2    Crawford, B.E.3    Esko, J.D.4    Tufaro, F.5    Duncan, G.6
  • 6
    • 0034023838 scopus 로고    scopus 로고
    • Solitary osteochondroma of the limbs Clinical review of 76 cases and pathogenic hypothesis
    • Essadki B, Moujtahid M, Lamine A, Fikry T, Essadki O, Zryouil B. (2000). Solitary osteochondroma of the limbs. Clinical review of 76 cases and pathogenic hypothesis. Acta Orthop Belg 66: 146-153.
    • (2000) Acta Orthop Belg , vol.66 , pp. 146-153
    • Essadki, B.1    Moujtahid, M.2    Lamine, A.3    Fikry, T.4    Essadki, O.5    Zryouil, B.6
  • 8
    • 0037105009 scopus 로고    scopus 로고
    • Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis
    • Hall CR, Cole WG, Haynes R, Hecht JT. (2002). Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet 112: 1-5.
    • (2002) Am J Med Genet , vol.112 , pp. 1-5
    • Hall, C.R.1    Cole, W.G.2    Haynes, R.3    Hecht, J.T.4
  • 10
    • 0028917663 scopus 로고
    • 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. (1995). Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am J Hum Genet 56: 1125-1131.
    • (1995) Am J Hum Genet , vol.56 , pp. 1125-1131
    • Hecht, J.T.1    Hogue, D.2    Strong, L.C.3    Hansen, M.F.4    Blanton, S.H.5    Wagner, M.6
  • 11
    • 0025810316 scopus 로고
    • Hereditary multiple exostoses
    • Hennekam RC. (1991). Hereditary multiple exostoses. J Med Genet 28: 262-266.
    • (1991) J Med Genet , vol.28 , pp. 262-266
    • Hennekam, R.C.1
  • 13
    • 71749111001 scopus 로고    scopus 로고
    • Multiple osteochondromas: Mutation update and description of the multiple osteochondromas mutation database (MOdb
    • Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG et al. (2009). Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat 30: 1620-1627.
    • (2009) Hum Mutat , vol.30 , pp. 1620-1627
    • Jennes, I.1    Pedrini, E.2    Zuntini, M.3    Mordenti, M.4    Balkassmi, S.5    Asteggiano, C.G.6
  • 14
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson Jr AG. (1971). Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68: 820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 15
    • 33947370135 scopus 로고    scopus 로고
    • Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases
    • Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L et al. (2006). Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat 27: 1160.
    • (2006) Hum Mutat , vol.27 , pp. 1160
    • Lonie, L.1    Fraser, M.2    Cole, T.3    Wise, C.4    Yates, L.5
  • 16
    • 0031106190 scopus 로고    scopus 로고
    • Genomic organization and promoter structure of the human EXT1 gene
    • Ludecke H-J, Ahn J, Lin X, Hill A, Wagner M J, Schomburg L et al. (1997). Genomic organization and promoter structure of the human EXT1 gene. Genomics 40: 351-354.
    • (1997) Genomics , vol.40 , pp. 351-354
    • Ludecke, H.-J.1    Ahn, J.2    Lin, X.3    Hill, A.4    Wagner, M.J.5    Schomburg, L.6
  • 17
    • 0031837107 scopus 로고    scopus 로고
    • The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate
    • McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP et al. (1998). The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nature Genet 19: 158-161.
    • (1998) Nature Genet , vol.19 , pp. 158-161
    • McCormick, C.1    Leduc, Y.2    Martindale, D.3    Mattison, K.4    Esford, L.E.5    Dyer, A.P.6
  • 18
    • 0034681139 scopus 로고    scopus 로고
    • 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. (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 USA 97: 668-673.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 668-673
    • McCormick, C.1    Duncan, G.2    Goutsos, K.T.3    Tufaro, F.4
  • 20
    • 33646243302 scopus 로고    scopus 로고
    • Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas
    • Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M et al. (2005). Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Hum Mutat 26: 280.
    • (2005) Hum Mutat , vol.26 , pp. 280
    • Pedrini, E.1    De Luca, A.2    Valente, E.M.3    Maini, V.4    Capponcelli, S.5    Mordenti, M.6
  • 21
    • 0032981868 scopus 로고    scopus 로고
    • The neoplastic pathogenesis of solitary and multiple osteochondromas
    • Porter DE, Simpson AH. (1999). The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol 188: 119-125.
    • (1999) J Pathol , vol.188 , pp. 119-125
    • Porter, D.E.1    Simpson, A.H.2
  • 22
    • 0028916693 scopus 로고
    • Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
    • Raskind WH, Conrad EU, Chansky H, Matsushita M. (1995). Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56: 1132-1139.
    • (1995) Am J Hum Genet , vol.56 , pp. 1132-1139
    • Raskind, W.H.1    Conrad, E.U.2    Chansky, H.3    Matsushita, M.4
  • 23
    • 66349088754 scopus 로고    scopus 로고
    • Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques
    • Rohlin A, Wernersson J, Engwall Y, Wiklund L, Bjork J, Nordling M. (2009). Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat 30: 1012-1020.
    • (2009) Hum Mutat , vol.30 , pp. 1012-1020
    • Rohlin, A.1    Wernersson, J.2    Engwall, Y.3    Wiklund, L.4    Bjork, J.5    Nordling, M.6
  • 25
    • 0001524698 scopus 로고
    • Hereditary multiple exostosis
    • Solomon L. (1964). Hereditary multiple exostosis. Am J Hum Genet 16: 351-363.
    • (1964) Am J Hum Genet , vol.16 , pp. 351-363
    • Solomon, L.1
  • 27
    • 33644918005 scopus 로고    scopus 로고
    • Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases
    • Traeger-Synodinos J. (2006). Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases. Mol Aspects Med 27: 176-191.
    • (2006) Mol Aspects Med , vol.27 , pp. 176-191
    • Traeger-Synodinos, J.1
  • 33
    • 0034053120 scopus 로고    scopus 로고
    • Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes
    • Wuyts W, Van Hul W. (2000). Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat 15: 220-227.
    • (2000) Hum Mutat , vol.15 , pp. 220-227
    • Wuyts, W.1    Van Hul, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.