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Volumn 12, Issue 4, 2008, Pages 557-561

One third of japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 57749117182     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0048     Document Type: Article
Times cited : (5)

References (33)
  • 1
    • 0029090221 scopus 로고
    • Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1)
    • Ahn J, Ludecke H, Lindow S, et al. (1995) Cloning of the putative tumor suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet 11:137-143.
    • (1995) Nature Genet , vol.11 , pp. 137-143
    • Ahn, J.1    Ludecke, H.2    Lindow, S.3
  • 2
    • 0034003411 scopus 로고    scopus 로고
    • Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
    • Dobson-stone C, Cox RD, Lonie L, et al. (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet 8:24-32.
    • (2000) Eur J Hum Genet , vol.8 , pp. 24-32
    • Dobson-stone, C.1    Cox, R.D.2    Lonie, L.3
  • 3
    • 0034945580 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in hereditary multiple exostoses
    • Francannet C, Cohen-Tanugi A, Le Merrer M, et al. (2001) Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 38:430-434.
    • (2001) J Med Genet , vol.38 , pp. 430-434
    • Francannet, C.1    Cohen-Tanugi, A.2    Le Merrer, M.3
  • 4
    • 0037105009 scopus 로고    scopus 로고
    • Reevaluation of a gene model for the development of exostoses in hereditary multiple exostoses
    • Hall CR, Cole WG, Haymes R, et al. (2002) Reevaluation of a gene model for the development of exostoses in hereditary multiple exostoses. Am J Med Genet 112(1):1-5.
    • (2002) Am J Med Genet , vol.112 , Issue.1 , pp. 1-5
    • Hall, C.R.1    Cole, W.G.2    Haymes, R.3
  • 5
    • 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, et al. (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
  • 6
    • 0031020756 scopus 로고    scopus 로고
    • Hereditary multiple exostoses (EXT): Mutational studies of familial EXT1 cases and EXT-associated malignancies
    • Hecht JT, Hogue D, Wang Y, et al. (1997) Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet 60:80-86.
    • (1997) Am J Hum Genet , vol.60 , pp. 80-86
    • Hecht, J.T.1    Hogue, D.2    Wang, Y.3
  • 7
    • 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
  • 8
    • 4143084434 scopus 로고    scopus 로고
    • Of hedgehogs and hereditary bone tumors: Reexamination of the pathogenesis of osteochondromas
    • Jones KB, Morcuende JA (2003) Of hedgehogs and hereditary bone tumors: reexamination of the pathogenesis of osteochondromas. Iowa Orthop J 23:87-95.
    • (2003) Iowa Orthop J , vol.23 , pp. 87-95
    • Jones, K.B.1    Morcuende, J.A.2
  • 10
    • 0031133081 scopus 로고    scopus 로고
    • Methylation-specific PCR simplifies imprinting analysis
    • Kubota T, Das S, Christian SL, et al. (1997) Methylation-specific PCR simplifies imprinting analysis. Nat Genet 16:16-17.
    • (1997) Nat Genet , vol.16 , pp. 16-17
    • Kubota, T.1    Das, S.2    Christian, S.L.3
  • 11
    • 0030829353 scopus 로고    scopus 로고
    • Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
    • Legeai-Mallet L, Munnich A, Maroteaux P, et al. (1997) Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 52:12-16.
    • (1997) Clin Genet , vol.52 , pp. 12-16
    • Legeai-Mallet, L.1    Munnich, A.2    Maroteaux, P.3
  • 12
    • 0028351625 scopus 로고
    • A gene for hereditary multiple exostoses maps to chromosome 19p
    • Le Merrer M, Legeai-Mallet L, Jeannin PM, et al. (1994) A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 3:717-722.
    • (1994) Hum Mol Genet , vol.3 , pp. 717-722
    • Le Merrer, M.1    Legeai-Mallet, L.2    Jeannin, P.M.3
  • 13
    • 0023857318 scopus 로고
    • Spindle-cell sarcoma in patients who have osteochondromatosis. A report of two cases
    • Matsuno T, Ichioka Y, Yagi T, et al. (1988) Spindle-cell sarcoma in patients who have osteochondromatosis. A report of two cases. Am J Bone Joint Surg 70:137-141.
    • (1988) Am J Bone Joint Surg , vol.70 , pp. 137-141
    • Matsuno, T.1    Ichioka, Y.2    Yagi, T.3
  • 14
    • 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, et al. (2005) Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Hum Mutat 3:280-289.
    • (2005) Hum Mutat , vol.3 , pp. 280-289
    • Pedrini, E.1    de Luca, A.2    Valente, E.M.3
  • 15
    • 0030859390 scopus 로고    scopus 로고
    • Mutation screening of EXT1 and EXT2 genes in patients with hereditary multiple exostoses
    • Philippe C, Porter DE, Emerton ME, et al. (1997) Mutation screening of EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet 61:520-528.
    • (1997) Am J Hum Genet , vol.61 , pp. 520-528
    • Philippe, C.1    Porter, D.E.2    Emerton, M.E.3
  • 16
    • 4544323146 scopus 로고    scopus 로고
    • Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study
    • Porter DE, Lonie L, Fraser M, et al. (2004) Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 86:1041-1046.
    • (2004) J Bone Joint Surg Br , vol.86 , pp. 1041-1046
    • Porter, D.E.1    Lonie, L.2    Fraser, M.3
  • 17
    • 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, et al. (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
  • 18
    • 0031594163 scopus 로고    scopus 로고
    • Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses
    • Raskind WH, Conrad EU 3rd, Matsushita M, et al. (1998) Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat 11:231-239.
    • (1998) Hum Mutat , vol.11 , pp. 231-239
    • Raskind, W.H.1    Conrad 3rd, E.U.2    Matsushita, M.3
  • 20
    • 0035866027 scopus 로고    scopus 로고
    • Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses
    • Seki H, Kubota T, Ikegawa S, et al. (2001) Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet 99:59-62.
    • (2001) Am J Med Genet , vol.99 , pp. 59-62
    • Seki, H.1    Kubota, T.2    Ikegawa, S.3
  • 21
    • 0036757178 scopus 로고    scopus 로고
    • Mutation screening of the EXT1 genes in patients with hereditary multiple exostoses in Taiwan
    • Shi YR, Wu JY, Hsu YA, et al. (2002) Mutation screening of the EXT1 genes in patients with hereditary multiple exostoses in Taiwan. Genet Test 6:237-243.
    • (2002) Genet Test , vol.6 , pp. 237-243
    • Shi, Y.R.1    Wu, J.Y.2    Hsu, Y.A.3
  • 22
    • 0035958521 scopus 로고    scopus 로고
    • A mutation in the 5′UTR of BRCA1 gene, cause a down modulation of translation efficiency in a sporadic breast cancer
    • Signori E, Bagni C, Papa S, et al. (2001) A mutation in the 5′UTR of BRCA1 gene, cause a down modulation of translation efficiency in a sporadic breast cancer. Oncogene 20:4596-4600.
    • (2001) Oncogene , vol.20 , pp. 4596-4600
    • Signori, E.1    Bagni, C.2    Papa, S.3
  • 23
    • 33947378729 scopus 로고    scopus 로고
    • A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients
    • Signori E, Massi E, Matera MG, et al. (2007) A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer 46:470-477.
    • (2007) Genes Chromosomes Cancer , vol.46 , pp. 470-477
    • Signori, E.1    Massi, E.2    Matera, M.G.3
  • 24
    • 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, et al. (2005) 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 13:470-474.
    • (2005) Eur J Hum Genet , vol.13 , pp. 470-474
    • Vink, G.R.1    White, S.J.2    Gabelic, S.3
  • 25
    • 0020545180 scopus 로고
    • The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis
    • Voutsinas S, Wynne-Davies R (1983) The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. J Med Genet 20:345-349.
    • (1983) J Med Genet , vol.20 , pp. 345-349
    • Voutsinas, S.1    Wynne-Davies, R.2
  • 26
    • 3042824616 scopus 로고    scopus 로고
    • Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
    • White ST, Vink GR, Kriek M, et al. (2004) Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 24:86-92.
    • (2004) Hum Mutat , vol.24 , pp. 86-92
    • White, S.T.1    Vink, G.R.2    Kriek, M.3
  • 27
    • 33745614356 scopus 로고    scopus 로고
    • A new detection method for ATRX gene mutations using a mismatch-specific endonuclease
    • Wada T, Fukushima Y, Saitoh S (2006) A new detection method for ATRX gene mutations using a mismatch-specific endonuclease. Am J Med Genet 140A:1519-1523.
    • (2006) Am J Med Genet , vol.140 A , pp. 1519-1523
    • Wada, T.1    Fukushima, Y.2    Saitoh, S.3
  • 29
    • 28644446964 scopus 로고    scopus 로고
    • An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas
    • Wuyts W, Radersma R, Storm K, et al. (2005) An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. Clin Genet 68:542-547.
    • (2005) Clin Genet , vol.68 , pp. 542-547
    • Wuyts, W.1    Radersma, R.2    Storm, K.3
  • 30
    • 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
  • 31
    • 17344369553 scopus 로고    scopus 로고
    • Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses
    • Wuyts W, van Hul W, Boulle K, et al. (1998) Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 62:346-354.
    • (1998) Am J Hum Genet , vol.62 , pp. 346-354
    • Wuyts, W.1    van Hul, W.2    Boulle, K.3
  • 32
    • 13144275255 scopus 로고    scopus 로고
    • Identification and characterization of a novel member of the EXT gene family, EXTL2
    • Wuyts W, van Hul W, Hendrickx J, et al. (1997) Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet 5:382-9.
    • (1997) Eur J Hum Genet , vol.5 , pp. 382-389
    • Wuyts, W.1    van Hul, W.2    Hendrickx, J.3
  • 33
    • 0032808501 scopus 로고    scopus 로고
    • Mutation analysis of hereditary multiple exostoses in the Chinese
    • Xu L, Xia J, Jiang H, et al. (1999) Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet 105:45-50.
    • (1999) Hum Genet , vol.105 , pp. 45-50
    • Xu, L.1    Xia, J.2    Jiang, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.