{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T15:21:41Z","timestamp":1784992901711,"version":"3.55.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"Grant-in-Aid for Scientific Research from Ministry of Education, Culture, Sports, Science and Technology of Japan","award":["H22 nanchiippan-209"],"award-info":[{"award-number":["H22 nanchiippan-209"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genet"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1186\/s12863-016-0359-4","type":"journal-article","created":{"date-parts":[[2016,3,9]],"date-time":"2016-03-09T05:22:11Z","timestamp":1457500931000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas"],"prefix":"10.1186","volume":"17","author":[{"given":"Daichi","family":"Ishimaru","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Gotoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Takayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisashi","family":"Narimatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Kimata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruhiko","family":"Akiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuji","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazu","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,3,9]]},"reference":[{"issue":"9","key":"359_CR1","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.2106\/JBJS.F.01336","volume":"89","author":"S Akita","year":"2007","unstructured":"Akita S, Murase T, Yonenobu K, Shimada K, Masada K, Yoshikawa H. Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. J Bone Joint Surg Am. 2007;89(9):1993\u20139.","journal-title":"J. Bone Joint Surg. Am."},{"key":"359_CR2","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1007\/s00586-015-3883-4","volume":"24","author":"Y Matsumoto","year":"2015","unstructured":"Matsumoto Y, Matsumoto K, Harimaya K, Okada S, Doi T, Iwamoto Y. Scoliosis in patients with multiple hereditary exostoses. Eur Spine J. 2015;24:1568\u201373.","journal-title":"Eur Spine J"},{"issue":"24","key":"359_CR3","doi-asserted-by":"crossref","first-page":"10932","DOI":"10.1073\/pnas.0914642107","volume":"107","author":"K Matsumoto","year":"2010","unstructured":"Matsumoto K, Irie F, Mackem S, Yamaguchi Y. A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci U S A. 2010;107(24):10932\u20137.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7","key":"359_CR4","doi-asserted-by":"crossref","first-page":"986","DOI":"10.2106\/00004623-199407000-00005","volume":"76","author":"GA Schmale","year":"1994","unstructured":"Schmale GA, Conrad 3rd EU, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am. 1994;76(7):986\u201392.","journal-title":"J. Bone Joint Surg. Am."},{"key":"359_CR5","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1750-1172-3-3","volume":"3","author":"JV Bovee","year":"2008","unstructured":"Bovee JV. Multiple osteochondromas. Orphanet J Rare Dis. 2008;3:3.","journal-title":"Orphanet J. Rare Dis."},{"key":"359_CR6","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1007\/s11999-015-4134-z","volume":"473","author":"CM Czajka","year":"2015","unstructured":"Czajka CM, DiCaprio MR. What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration? Clin Orthop Relat Res. 2015;473:2355\u201361.","journal-title":"Clin Orthop Relat Res"},{"issue":"11","key":"359_CR7","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.2106\/JBJS.K.00406","volume":"94","author":"AL Goud","year":"2012","unstructured":"Goud AL, de Lange J, Scholtes VA, Bulstra SK, Ham SJ. Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg Am. 2012;94(11):1013\u201320.","journal-title":"J. Bone Joint Surg. Am."},{"issue":"1","key":"359_CR8","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.1399-0004.1997.tb02508.x","volume":"52","author":"L Legeai-Mallet","year":"1997","unstructured":"Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet. 1997;52(1):12\u20136.","journal-title":"Clin Genet"},{"issue":"24","key":"359_CR9","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.2106\/JBJS.J.00949","volume":"93","author":"E Pedrini","year":"2011","unstructured":"Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, et al. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of \u201cprotective\u201d and \u201crisk\u201d factors. J Bone Joint Surg Am. 2011;93(24):2294\u2013302.","journal-title":"J. Bone Joint Surg. Am."},{"key":"359_CR10","doi-asserted-by":"crossref","unstructured":"Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995;11(2):137\u201343.","DOI":"10.1038\/ng1095-137"},{"key":"359_CR11","doi-asserted-by":"crossref","unstructured":"Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet. 1996;14(1):25\u201332.","DOI":"10.1038\/ng0996-25"},{"key":"359_CR12","doi-asserted-by":"crossref","unstructured":"Ludecke HJ, Ahn J, Lin X, Hill A, Wagner MJ, Schomburg L, Horsthemke B, Wells DE. Genomic organization and promoter structure of the human EXT1 gene. Genomics. 1997;40(2):351\u20134.","DOI":"10.1006\/geno.1996.4577"},{"issue":"4","key":"359_CR13","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1101\/gr.7.4.359","volume":"7","author":"GA Clines","year":"1997","unstructured":"Clines GA, Ashley JA, Shah S, Lovett M. The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res. 1997;7(4):359\u201367.","journal-title":"Genome Res"},{"key":"359_CR14","doi-asserted-by":"crossref","unstructured":"Sarrion P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, et al. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep. 2013;3:1346.","DOI":"10.1038\/srep01346"},{"issue":"2","key":"359_CR15","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s13353-014-0195-z","volume":"55","author":"A Jamsheer","year":"2014","unstructured":"Jamsheer A, Socha M, Sowinska-Seidler A, Telega K, Trzeciak T, Latos-Bielenska A. Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet. 2014;55(2):183\u20138.","journal-title":"J Appl Genet"},{"key":"359_CR16","doi-asserted-by":"crossref","unstructured":"Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y. Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet. 2001;99(1):59\u201362.","DOI":"10.1002\/1096-8628(20010215)99:1<59::AID-AJMG1115>3.0.CO;2-Z"},{"key":"359_CR17","doi-asserted-by":"crossref","unstructured":"Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX. Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999;105(1-2):45\u201350.","DOI":"10.1007\/s004399900058"},{"key":"359_CR18","doi-asserted-by":"crossref","unstructured":"Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat. 2009;30(12):1620\u20137.","DOI":"10.1002\/humu.21123"},{"key":"359_CR19","doi-asserted-by":"crossref","unstructured":"Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W, Seripa D, et al. A combined analytical approach reveals novel EXT1\/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer. 2007;46(5):470\u20137.","DOI":"10.1002\/gcc.20429"},{"issue":"1","key":"359_CR20","doi-asserted-by":"crossref","first-page":"85","DOI":"10.2353\/jmoldx.2008.070086","volume":"10","author":"I Jennes","year":"2008","unstructured":"Jennes I, Entius MM, Van Hul E, Parra A, Sangiorgi L, Wuyts W. Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. J Mol Diagn. 2008;10(1):85\u201392.","journal-title":"J. Mol. Diagn."},{"key":"359_CR21","doi-asserted-by":"crossref","unstructured":"Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics. 1998;47(2):230\u20137.","DOI":"10.1006\/geno.1997.5101"},{"key":"359_CR22","doi-asserted-by":"crossref","unstructured":"Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ. Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet. 1997;5(6):382\u20139.","DOI":"10.1159\/000484796"},{"issue":"1","key":"359_CR23","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1101\/gr.7.1.10","volume":"7","author":"CA Wise","year":"1997","unstructured":"Wise CA, Clines GA, Massa H, Trask BJ, Lovett M. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res. 1997;7(1):10\u20136.","journal-title":"Genome Res"},{"issue":"3","key":"359_CR24","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K","volume":"15","author":"W Wuyts","year":"2000","unstructured":"Wuyts W, Van Hul W. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220\u20137.","journal-title":"Hum Mutat"}],"container-title":["BMC Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12863-016-0359-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T22:00:20Z","timestamp":1600293620000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.biomedcentral.com\/1471-2156\/17\/52"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,9]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["359"],"URL":"https:\/\/doi.org\/10.1186\/s12863-016-0359-4","relation":{},"ISSN":["1471-2156"],"issn-type":[{"value":"1471-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,9]]},"article-number":"52"}}