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Volumn 177, Issue 4, 2010, Pages 1946-1957

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; TRANSFORMING GROWTH FACTOR BETA; WNT PROTEIN;

EID: 77957356448     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2010.100296     Document Type: Article
Times cited : (61)

References (46)
  • 1
    • 14944371555 scopus 로고    scopus 로고
    • Osteochondroma. World Health Organization classification of tumours
    • Edited by CDM Fletcher, KK Unni, and F Mertens. Lyon, France, IARC Press
    • Khurana J, Abdul-Karim F, Boveacute;e JVMG: Osteochondroma. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by CDM Fletcher, KK Unni, and F Mertens. Lyon, France, IARC Press, 2002, pp. 234-236
    • (2002) Pathology and Genetics of Tumours of Soft Tissue and Bone , pp. 234-236
    • Khurana, J.1    Abdul-Karim, F.2    Boveacute3    e, J.V.M.G.4
  • 2
    • 1942503596 scopus 로고    scopus 로고
    • Congenital and inherited syndromes associated with bone and soft tissue tumours: Multiple osteochondromas. World Health Organisation classification of tumours
    • Edited by CDM Fletcher, KK Unni, and F Mertens. Lyon, France, IARC Press
    • Boveacute;e JVMG Hogendoorn PCW: Congenital and inherited syndromes associated with bone and soft tissue tumours: Multiple osteochondromas. World Health Organisation classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by CDM Fletcher, KK Unni, and F Mertens. Lyon, France, IARC Press, 2002, pp. 360-362
    • (2002) Pathology and Genetics of Tumours of Soft Tissue and Bone , pp. 360-362
    • Boveacute1    e, J.V.M.G.2    Hogendoorn, P.C.W.3
  • 3
    • 0030829353 scopus 로고    scopus 로고
    • Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
    • Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M: Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 1997, 52:12-16
    • (1997) Clin Genet , vol.52 , pp. 12-16
    • Legeai-Mallet, L.1    Munnich, A.2    Maroteaux, P.3    Le Merrer, M.4
  • 5
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG Jr: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68:820-823
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson Jr., A.G.1
  • 10
    • 0028917663 scopus 로고
    • Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
    • Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M: Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 1995, 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
    • 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: Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 1995, 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
  • 13
    • 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: Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet 2002, 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
  • 15
    • 0032500662 scopus 로고    scopus 로고
    • The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
    • Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K: The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J Biol Chem 1998, 273:26265-26268
    • (1998) J Biol Chem , vol.273 , pp. 26265-26268
    • Lind, T.1    Tufaro, F.2    McCormick, C.3    Lindahl, U.4    Lidholt, K.5
  • 17
    • 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: 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 2000, 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
  • 18
    • 0032718876 scopus 로고    scopus 로고
    • A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses
    • Simmons AD, Musy MM, Lopes CS, Hwang L-Y, Yang Y-P, Lovett M: A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet 1999, 8:2155-2164
    • (1999) Hum Mol Genet , vol.8 , pp. 2155-2164
    • Simmons, A.D.1    Musy, M.M.2    Lopes, C.S.3    Hwang, L.-Y.4    Yang, Y.-P.5    Lovett, M.6
  • 19
    • 0032474837 scopus 로고    scopus 로고
    • Tout-velu is a drosophila homologue of the putative tumour suppressor EXT1 and is needed for Hh diffusion
    • Bellaiche Y, The I, Perrimon N: Tout-velu is a drosophila homologue of the putative tumour suppressor EXT1 and is needed for Hh diffusion. Nature 1998, 394:85-88
    • (1998) Nature , vol.394 , pp. 85-88
    • Bellaiche, Y.1    The, I.2    Perrimon, N.3
  • 20
    • 2342440335 scopus 로고    scopus 로고
    • Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation
    • Han C, Belenkaya TY, Khodoun M, Tauchi M, Lin X, Lin X: Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation. Development 2004, 131:1563-1575
    • (2004) Development , vol.131 , pp. 1563-1575
    • Han, C.1    Belenkaya, T.Y.2    Khodoun, M.3    Tauchi, M.4    Lin, X.5    Lin, X.6
  • 21
    • 1342341864 scopus 로고    scopus 로고
    • Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans
    • Takei Y, Ozawa Y, Sato M, Watanabe A, Tabata T: Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans. Development 2004, 131:73-82
    • (2004) Development , vol.131 , pp. 73-82
    • Takei, Y.1    Ozawa, Y.2    Sato, M.3    Watanabe, A.4    Tabata, T.5
  • 22
    • 0034723308 scopus 로고    scopus 로고
    • Structural analysis of glycosaminoglycans in drosophila and caenorhabditis elegans and demonstration that tout-velu, a drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo
    • Toyoda H, Kinoshita-Toyoda A, Selleck SB: Structural analysis of glycosaminoglycans in drosophila and caenorhabditis elegans and demonstration that tout-velu, a drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo. J Biol Chem 2000, 275:2269-2275
    • (2000) J Biol Chem , vol.275 , pp. 2269-2275
    • Toyoda, H.1    Kinoshita-Toyoda, A.2    Selleck, S.B.3
  • 26
    • 0034537352 scopus 로고    scopus 로고
    • Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma
    • Boveacute;e JVMG, Van den Broek LJCM, Cleton-Jansen AM, Hogendoorn PCW: Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma. Lab Invest 2000, 80:1925-1933
    • (2000) Lab Invest , vol.80 , pp. 1925-1933
    • Boveacute1    e, J.V.M.G.2    Van Ljcm, D.B.3    Cleton-Jansen, A.M.4    Hogendoorn, P.C.W.5
  • 27
    • 18744397844 scopus 로고    scopus 로고
    • The use of Bcl-2 and PTHLH immunohistochemistry in the diagnosis of peripheral chondrosarcoma in a clinicopathological setting
    • Hameetman L, Kok P, Eilers PHC, Cleton-Jansen AM, Hogendoorn PCW, Boveacute;e JVMG: The use of Bcl-2 and PTHLH immunohistochemistry in the diagnosis of peripheral chondrosarcoma in a clinicopathological setting. Virchows Arch 2005, 446:430-437
    • (2005) Virchows Arch , vol.446 , pp. 430-437
    • Hameetman, L.1    Kok, P.2    Eilers, P.H.C.3    Cleton-Jansen, A.M.4    Hogendoorn, P.C.W.5    Boveacute6    e, J.V.M.G.7
  • 28
    • 17144424668 scopus 로고    scopus 로고
    • Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: Splice site mutations and exonic deletions account for more than half of the mutations
    • Vink GR, White SJ, Gabelic S, Hogendoorn PCW, Breuning MH, Bakker E: Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet 2004, 13:470-474
    • (2004) Eur J Hum Genet , vol.13 , pp. 470-474
    • Vink, G.R.1    White, S.J.2    Gabelic, S.3    Hogendoorn, P.C.W.4    Breuning, M.H.5    Bakker, E.6
  • 29
    • 3042824616 scopus 로고    scopus 로고
    • Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
    • White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT: Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 2004, 24:86-92
    • (2004) Hum Mutat , vol.24 , pp. 86-92
    • White, S.J.1    Vink, G.R.2    Kriek, M.3    Wuyts, W.4    Schouten, J.5    Bakker, B.6    Breuning, M.H.7    Den Dunnen, J.T.8
  • 31
    • 23944455883 scopus 로고    scopus 로고
    • A unique role for 6-O sulfation modification in zebrafish vascular development
    • Chen E, Stringer SE, Rusch MA, Selleck SB, Ekker SC: A unique role for 6-O sulfation modification in zebrafish vascular development. Dev Biol 2005, 284:364-376
    • (2005) Dev Biol , vol.284 , pp. 364-376
    • Chen, E.1    Stringer, S.E.2    Rusch, M.A.3    Selleck, S.B.4    Ekker, S.C.5
  • 32
    • 33644977975 scopus 로고    scopus 로고
    • VEGF165-binding sites within heparan sulfate encompass two highly sulfated domains and can be liberated by K5 lyase
    • Robinson CJ, Mulloy B, Gallagher JT, Stringer SE: VEGF165-binding sites within heparan sulfate encompass two highly sulfated domains and can be liberated by K5 lyase. J Biol Chem 2006, 281:1731-1740
    • (2006) J Biol Chem , vol.281 , pp. 1731-1740
    • Robinson, C.J.1    Mulloy, B.2    Gallagher, J.T.3    Stringer, S.E.4
  • 33
    • 0015215284 scopus 로고
    • A method for the determination of the molecular weight and molecular-weight distribution of chondroitin sulphate
    • Wasteson A: A method for the determination of the molecular weight and molecular-weight distribution of chondroitin sulphate. J Chromatogr 1971, 59:87-97
    • (1971) J Chromatogr , vol.59 , pp. 87-97
    • Wasteson, A.1
  • 34
    • 0027378157 scopus 로고
    • Spatial and temporal changes in the expression of fibroglycan (syndecan-2) during mouse embryonic development
    • David G, Bai XM, Van der Schueren B, Marynen P, Cassiman JJ, Van den Berghe H: Spatial and temporal changes in the expression of fibroglycan (syndecan-2) during mouse embryonic development. Development 1993, 119:841-854
    • (1993) Development , vol.119 , pp. 841-854
    • David, G.1    Bai, X.M.2    Van Der Schueren, B.3    Marynen, P.4    Cassiman, J.J.5    Van Den Berghe, H.6
  • 36
    • 28844450108 scopus 로고    scopus 로고
    • Mice deficient in Ext2 lack heparan sulfate and develop exostoses
    • Stickens D, Zak BM, Rougier N, Esko JD, Werb Z: Mice deficient in Ext2 lack heparan sulfate and develop exostoses. Development 2005, 132:5055-5068
    • (2005) Development , vol.132 , pp. 5055-5068
    • Stickens, D.1    Zak, B.M.2    Rougier, N.3    Esko, J.D.4    Werb, Z.5
  • 37
    • 0037177869 scopus 로고    scopus 로고
    • Not all perlecans are created equal: Interactions with fibroblast growth factor (FGF) 2 and FGF receptors
    • Knox S, Merry C, Stringer S, Melrose J, Whitelock J: Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors. J Biol Chem 2002, 277:14657-14665
    • (2002) J Biol Chem , vol.277 , pp. 14657-14665
    • Knox, S.1    Merry, C.2    Stringer, S.3    Melrose, J.4    Whitelock, J.5
  • 40
    • 0034663225 scopus 로고    scopus 로고
    • Disruption of gastrulation and heparan sulfate biosynthesis in EXT1- deficient mice
    • Lin X, Wei G, Shi Z, Dryer L, Esko JD, Wells DE, Matzuk MM: Disruption of gastrulation and heparan sulfate biosynthesis in EXT1- deficient mice. Dev Biol 2000, 224:299-311
    • (2000) Dev Biol , vol.224 , pp. 299-311
    • Lin, X.1    Wei, G.2    Shi, Z.3    Dryer, L.4    Esko, J.D.5    Wells, D.E.6    Matzuk, M.M.7
  • 41
    • 66449127755 scopus 로고    scopus 로고
    • Organ-specific heparan sulfate structural phenotypes
    • Shi X, Zaia J: Organ-specific heparan sulfate structural phenotypes. J Biol Chem 2009, 284:11806-11814
    • (2009) J Biol Chem , vol.284 , pp. 11806-11814
    • Shi, X.1    Zaia, J.2
  • 44
    • 15544381797 scopus 로고    scopus 로고
    • EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development
    • Hilton MJ, Gutierrez L, Martinez DA, Wells DE: EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development. Bone 2005, 36:379-386
    • (2005) Bone , vol.36 , pp. 379-386
    • Hilton, M.J.1    Gutierrez, L.2    Martinez, D.A.3    Wells, D.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.