{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T20:06:12Z","timestamp":1692561972134},"reference-count":36,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Oncol"],"DOI":"10.3892\/ijo.2019.4688","type":"journal-article","created":{"date-parts":[[2019,1,16]],"date-time":"2019-01-16T08:27:39Z","timestamp":1547627259000},"source":"Crossref","is-referenced-by-count":1,"title":["A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses"],"prefix":"10.3892","author":[{"given":"Xiaoyan","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Fuzhou Second Hospital, Fuzhou, Fujian 350007, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingrui","family":"Lin","sequence":"additional","affiliation":[{"name":"Intensive Care Unit, The Affiliated People's Hospital of Fujian Traditional Medical University, Fuzhou, Fujian 350004, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Bone Tumors, Fuzhou Second Hospital, Fuzhou, Fujian 350007, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenxu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Fuzhou Second Hospital, Fuzhou, Fujian 350007, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guolin","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian 361003, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2019,1,16]]},"reference":[{"key":"key20200713185540_b1-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"110","DOI":"10.5435\/00124635-200503000-00004","article-title":"Manifestations of hereditary multiple exostoses","volume":"13","author":"Stieber","year":"2005","journal-title":"J Am Acad Orthop Surg"},{"key":"key20200713185540_b2-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1097\/BPO.0b013e31821c7738","article-title":"Glycobiology and the growth plate: Current concepts in multiple hereditary exostoses","volume":"31","author":"Jones","year":"2011","journal-title":"J Pediatr Orthop"},{"key":"key20200713185540_b3-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/ajmg.1320550113","article-title":"Natural history study of hereditary multiple exostoses","volume":"55","author":"Wicklund","year":"1995","journal-title":"Am J Med Genet"},{"key":"key20200713185540_b4-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"986","DOI":"10.2106\/00004623-199407000-00005","article-title":"The natural history of hereditary multiple exostoses","volume":"76","author":"Schmale","year":"1994","journal-title":"J Bone Joint Surg Am"},{"key":"key20200713185540_b5-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1302\/0301-620X.86B7.14815","article-title":"Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study","volume":"86","author":"Porter","year":"2004","journal-title":"J Bone Joint Surg Br"},{"key":"key20200713185540_b6-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1002\/(SICI)1096-9896(199906)188:2<119::AID-PATH321>3.0.CO;2-N","article-title":"The neoplastic pathogenesis of solitary and multiple osteochondromas","volume":"188","author":"Porter","year":"1999","journal-title":"J Pathol"},{"key":"key20200713185540_b7-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1038\/ng1095-137","article-title":"Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)","volume":"11","author":"Ahn","year":"1995","journal-title":"Nat Genet"},{"key":"key20200713185540_b8-ijo-54-03-0859","first-page":"1125","article-title":"Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8","volume":"56","author":"Hecht","year":"1995","journal-title":"Am J Hum Genet"},{"key":"key20200713185540_b9-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K","article-title":"Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes","volume":"15","author":"Wuyts","year":"2000","journal-title":"Hum Mutat"},{"key":"key20200713185540_b10-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"E2036","DOI":"10.1002\/humu.21423","article-title":"Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients","volume":"32","author":"Szuhai","year":"2011","journal-title":"Hum Mutat"},{"key":"key20200713185540_b11-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1002\/humu.21123","article-title":"Multiple osteochondromas: Mutation update and description of the multiple osteochondromas mutation database (MOdb)","volume":"30","author":"Jennes","year":"2009","journal-title":"Hum Mutat"},{"key":"key20200713185540_b12-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng0996-25","article-title":"The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes","volume":"14","author":"Stickens","year":"1996","journal-title":"Nat Genet"},{"key":"key20200713185540_b13-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1073\/pnas.97.2.668","article-title":"The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate","volume":"97","author":"McCormick","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20200713185540_b14-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1242\/dev.00913","article-title":"Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans","volume":"131","author":"Takei","year":"2004","journal-title":"Development"},{"key":"key20200713185540_b15-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1016\/j.bone.2011.02.001","article-title":"Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones","volume":"48","author":"Zak","year":"2011","journal-title":"Bone"},{"key":"key20200713185540_b16-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"2054","DOI":"10.1073\/pnas.0910875107","article-title":"A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes","volume":"107","author":"Jones","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20200713185540_b17-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"10932","DOI":"10.1073\/pnas.0914642107","article-title":"A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses","volume":"107","author":"Matsumoto","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20200713185540_b18-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"3827","DOI":"10.1038\/onc.2010.135","article-title":"Genetic models of osteochondroma onset and neoplastic progression: Evidence for mechanisms alternative to EXT genes inactivation","volume":"29","author":"Zuntini","year":"2010","journal-title":"Oncogene"},{"key":"key20200713185540_b19-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"1946","DOI":"10.2353\/ajpath.2010.100296","article-title":"No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas","volume":"177","author":"Reijnders","year":"2010","journal-title":"Am J Pathol"},{"key":"key20200713185540_b20-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/nature09000","article-title":"Deciphering the splicing code","volume":"465","author":"Barash","year":"2010","journal-title":"Nature"},{"key":"key20200713185540_b21-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1038\/nrg2164","article-title":"Splicing in disease: Disruption of the splicing code and the decoding machinery","volume":"8","author":"Wang","year":"2007","journal-title":"Nat Rev Genet"},{"key":"key20200713185540_b22-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"e94848","DOI":"10.1371\/journal.pone.0094848","article-title":"A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses","volume":"9","author":"Tian","year":"2014","journal-title":"PLoS One"},{"key":"key20200713185540_b23-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"4687","DOI":"10.3892\/mmr.2016.5814","article-title":"Novel mutation of EXT2 identified in a large family with multiple osteochondromas","volume":"14","author":"Chen","year":"2016","journal-title":"Mol Med Rep"},{"key":"key20200713185540_b24-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/1750-1172-3-3","article-title":"Multiple osteochondromas","volume":"3","author":"Bov\u00e9e","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"key20200713185540_b25-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1111\/j.1399-0004.2005.00538.x","article-title":"An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas","volume":"68","author":"Wuyts","year":"2005","journal-title":"Clin Genet"},{"key":"key20200713185540_b26-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1038\/ejhg.2008.257","article-title":"Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping","volume":"17","author":"Divina","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"key20200713185540_b27-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: An online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"key20200713185540_b28-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"key20200713185540_b29-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1089\/104303403764539387","article-title":"Real-time quantitative reverse transcriptase-polymerase chain reaction as a method for determining lentiviral vector titers and measuring transgene expression","volume":"14","author":"Liz\u00e9e","year":"2003","journal-title":"Hum Gene Ther"},{"key":"key20200713185540_b30-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1006\/bbrc.2000.2219","article-title":"Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus","volume":"268","author":"Kobayashi","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"key20200713185540_b31-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1186\/s12864-015-1251-8","article-title":"Deep RNA sequencing reveals a high frequency of alternative splicing events in the fungus Trichoderma longibrachiatum","volume":"16","author":"Xie","year":"2015","journal-title":"BMC Genomics"},{"key":"key20200713185540_b32-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1177\/0036933013518150","article-title":"Hereditary multiple exostoses: Anatomical distribution and burden of exostoses is dependent upon genotype and gender","volume":"59","author":"Clement","year":"2014","journal-title":"Scott Med J"},{"key":"key20200713185540_b33-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"2294","DOI":"10.2106\/JBJS.J.00949","article-title":"Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: Identification of 'protective' and 'risk' factors","volume":"93","author":"Pedrini","year":"2011","journal-title":"J Bone Joint Surg Am"},{"key":"key20200713185540_b34-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"32802","DOI":"10.1074\/jbc.M703560200","article-title":"Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation","volume":"282","author":"Busse","year":"2007","journal-title":"J Biol Chem"},{"key":"key20200713185540_b35-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1038\/gt.2012.61","article-title":"Efficient transduction of myeloid cells by an HIV-1-derived lentiviral vector that packages the Vpx accessory protein","volume":"20","author":"Bobadilla","year":"2013","journal-title":"Gene Ther"},{"key":"key20200713185540_b36-ijo-54-03-0859","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1111\/j.1348-0421.2010.00278.x","article-title":"Efficient propagation of progressive multifocal leukoencephalopathy-type JC virus in COS-7-derived cell lines stably expressing Tat protein of human immunodeficiency virus type 1","volume":"54","author":"Nukuzuma","year":"2010","journal-title":"Microbiol Immunol"}],"container-title":["International Journal of Oncology"],"original-title":[],"deposited":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T19:02:00Z","timestamp":1594666920000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/ijo.2019.4688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,16]]},"references-count":36,"URL":"https:\/\/doi.org\/10.3892\/ijo.2019.4688","relation":{},"ISSN":["1019-6439","1791-2423"],"issn-type":[{"value":"1019-6439","type":"print"},{"value":"1791-2423","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,16]]}}}