{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:29:52Z","timestamp":1791044992676,"version":"4.1.0"},"reference-count":54,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.gene.2013.06.027","type":"journal-article","created":{"date-parts":[[2013,6,24]],"date-time":"2013-06-24T09:45:21Z","timestamp":1372067121000},"page":"21-26","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["Aberrant and alternative splicing in skeletal system disease"],"prefix":"10.1016","volume":"528","author":[{"given":"Xin","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liling","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.06.027_bb0005","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1086\/497706","article-title":"Clinical and molecular findings in osteoporosis-pseudoglioma syndrome","volume":"77","author":"Ai","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.06.027_bb0015","doi-asserted-by":"crossref","first-page":"173","DOI":"10.4238\/vol8-1gmr563","article-title":"A novel COL1A1 gene-splicing mutation (c. 1875+1G>C) in a Brazilian patient with osteogenesis imperfecta","volume":"8","author":"Barbirato","year":"2009","journal-title":"Genet. Mol. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0020","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/rheumatology\/keq381","article-title":"Clinical significance of high levels of soluble tumour necrosis factor-alpha receptor-2 produced by alternative splicing in rheumatoid arthritis: a longitudinal prospective cohort study","volume":"50","author":"Canete","year":"2011","journal-title":"Rheumatology"},{"key":"10.1016\/j.gene.2013.06.027_bb0025","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0033067","article-title":"PTPN22.6, a dominant negative isoform of PTPN22 and potential biomarker of rheumatoid arthritis","volume":"7","author":"Chang","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2013.06.027_bb0030","first-page":"1022","article-title":"Presence of ED-A containing fibronectin in human articular cartilage from patients with osteoarthritis and rheumatoid arthritis","volume":"23","author":"Chevalier","year":"1996","journal-title":"J. Rheumatol."},{"key":"10.1016\/j.gene.2013.06.027_bb0035","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","author":"Faustino","year":"2003","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2013.06.027_bb0040","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1006\/excr.1995.1374","article-title":"Alternative splicing of fibronectin \u2014 many different proteins but few different functions","volume":"221","author":"Ffrench-Constant","year":"1995","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0045","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1086\/320592","article-title":"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda","volume":"68","author":"Gedeon","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.06.027_bb0050","first-page":"64","article-title":"Expression patterns of CD44 and CD44 splice variants in patients with rheumatoid arthritis","volume":"30","author":"Grisar","year":"2012","journal-title":"Clin. Exp. Rheumatol."},{"key":"10.1016\/j.gene.2013.06.027_bb0055","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s12041-009-0012-3","article-title":"A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family","volume":"88","author":"Guo","year":"2009","journal-title":"J. Genet."},{"key":"10.1016\/j.gene.2013.06.027_bb0060","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1002\/jor.20366","article-title":"Expression of large tenascin-C splice variants in synovial fluid of patients with rheumatoid arthritis","volume":"25","author":"Hasegawa","year":"2007","journal-title":"J. Orthop. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0065","doi-asserted-by":"crossref","first-page":"4962","DOI":"10.1073\/pnas.1016005108","article-title":"Inflammation-dependent secretion and splicing of IL-32 gamma in rheumatoid arthritis","volume":"108","author":"Heinhuis","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.gene.2013.06.027_bb0070","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1002\/cncr.26488","article-title":"CAPER-\u03b1 alternative splicing regulates the expression of vascular endothelial growth factor165 in Ewing sarcoma cells","volume":"118","author":"Huang","year":"2012","journal-title":"Cancer"},{"key":"10.1016\/j.gene.2013.06.027_bb0075","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1006\/bbrc.2002.6668","article-title":"Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells","volume":"292","author":"Jang","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.06.027_bb0080","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S030-43835(02)00694-8","article-title":"Loss of ligand-binding specificity of fibroblast growth factor receptor 2 by RNA splicing in human chondrosarcoma cells","volume":"191","author":"Jang","year":"2003","journal-title":"Cancer Lett."},{"key":"10.1016\/j.gene.2013.06.027_bb0085","doi-asserted-by":"crossref","DOI":"10.1186\/ar2447","article-title":"Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis","volume":"10","author":"Jin","year":"2008","journal-title":"Arthritis Res. Ther."},{"key":"10.1016\/j.gene.2013.06.027_bb0090","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1016\/j.bone.2004.08.008","article-title":"Expression of EDA+ and EDB+ fibronectin splice variants in bone","volume":"35","author":"Kilian","year":"2004","journal-title":"Bone"},{"key":"10.1016\/j.gene.2013.06.027_bb0095","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1097\/00003086-200203000-00028","article-title":"Expression of CD44 isoforms correlates with the metastatic potential of osteosarcoma","author":"Kim","year":"2002","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0100","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1007\/s004320050329","article-title":"Expression of CD44 variants in osteosarcoma","volume":"125","author":"Kuryu","year":"1999","journal-title":"J. Cancer Res. Clin. Oncol."},{"key":"10.1016\/j.gene.2013.06.027_bb0105","doi-asserted-by":"crossref","DOI":"10.1186\/gb-2002-3-11-reviews0008","article-title":"Finding signals that regulate alternative splicing in the post-genomic era","volume":"3","author":"Ladd","year":"2002","journal-title":"Genome Biol."},{"key":"10.1016\/j.gene.2013.06.027_bb0110","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ejhg.2011.42","article-title":"Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)","volume":"19","author":"Laine","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.06.027_bb0115","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.06.027_bb0120","first-page":"1103","article-title":"Alternative splicing of fibronectin transcripts in osteochondrogenic tumors","volume":"21","author":"Matsui","year":"2001","journal-title":"Anticancer. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0125","first-page":"2009","article-title":"In vivo immunogenicity of osteosarcoma cells that express B7-1a, an alternatively spliced form of B7-1","volume":"22","author":"Nagamori","year":"2002","journal-title":"Anticancer. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0130","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/ar746","article-title":"CD44 in rheumatoid arthritis","volume":"5","author":"Naor","year":"2003","journal-title":"Arthritis Res. Ther."},{"key":"10.1016\/j.gene.2013.06.027_bb0135","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1002\/ajmg.a.33177","article-title":"Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray","volume":"152A","author":"Narumi","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.06.027_bb0140","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.joca.2006.10.006","article-title":"Expression and function of T\u03b2RII-B, a variant of the type II TGF-\u03b2 receptor, in human chondrocytes","volume":"15","author":"Parker","year":"2007","journal-title":"Osteoarthr. Cartil."},{"key":"10.1016\/j.gene.2013.06.027_bb0145","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1002\/jcp.22846","article-title":"Occurrence, biochemical profile of vascular endothelial growth factor (VEGF) isoforms and their functions in endochondral ossification","volume":"227","author":"Patil","year":"2012","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.gene.2013.06.027_bb0150","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.gene.2012.04.023","article-title":"A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family","volume":"502","author":"Peng","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.gene.2013.06.027_bb0155","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1016\/j.humpath.2009.05.008","article-title":"Prognostic relevance of CCN3 in Ewing sarcoma","volume":"40","author":"Perbal","year":"2009","journal-title":"Hum. Pathol."},{"key":"10.1016\/j.gene.2013.06.027_bb0160","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/S0736-0266(03)00196-7","article-title":"Altered Cbfa1 expression and biomineralization in an osteosarcoma cell line","volume":"22","author":"Perinpanayagam","year":"2004","journal-title":"J. Orthop. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0165","doi-asserted-by":"crossref","DOI":"10.1002\/humu.9430","article-title":"Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I\u2013IV","volume":"27","author":"Pollitt","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.06.027_bb0170","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1007\/s00296-009-0866-y","article-title":"Differences between the early and advanced stages of rheumatoid arthritis in the expression of EDA-containing fibronectin","volume":"29","author":"Przybysz","year":"2009","journal-title":"Rheumatol. Int."},{"key":"10.1016\/j.gene.2013.06.027_bb0175","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1007\/s004280100422","article-title":"The angiogenic peptide vascular endothelial growth factor is expressed in foetal and ruptured tendons","volume":"439","author":"Pufe","year":"2001","journal-title":"Virchows Arch."},{"key":"10.1016\/j.gene.2013.06.027_bb0180","first-page":"1482","article-title":"Splice variants VEGF121 and VEGF165 of the angiogenic peptide vascular endothelial cell growth factor are expressed in the synovial tissue of patients with rheumatoid arthritis","volume":"28","author":"Pufe","year":"2001","journal-title":"J. Rheumatol."},{"key":"10.1016\/j.gene.2013.06.027_bb0185","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/1529-0131(200105)44:5<1082::AID-ANR188>3.0.CO;2-X","article-title":"The splice variants VEGF(121) and VEGF(189) of the angiogenic peptide vascular endothelial growth factor are expressed in osteoarthritic cartilage","volume":"44","author":"Pufe","year":"2001","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.gene.2013.06.027_bb0190","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s00441-002-0605-0","article-title":"Quantitative measurement of the splice variants 120 and 164 of the angiogenic peptide vascular endothelial growth factor in the time flow of fracture healing: a study in the rat","volume":"309","author":"Pufe","year":"2002","journal-title":"Cell Tissue Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0195","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.gene.2013.06.027_bb0200","series-title":"Skeletal Biology and Medicine, Pt B: Disease Mechanisms and Therapeutic Challenges","first-page":"302","article-title":"The skeletal dysplasias: clinical\u2013molecular correlations","author":"Rimoin","year":"2007"},{"key":"10.1016\/j.gene.2013.06.027_bb0205","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/371252a0","article-title":"Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia","volume":"371","author":"Rousseau","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.gene.2013.06.027_bb0210","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1111\/j.1600-0463.2011.02848.x","article-title":"FoxP3 mRNA splice forms in synovial CD4+ T cells in rheumatoid arthritis and psoriatic arthritis","volume":"120","author":"Ryder","year":"2012","journal-title":"APMIS"},{"key":"10.1016\/j.gene.2013.06.027_bb0215","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1034\/j.1399-0004.2003.00132.x","article-title":"Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4","volume":"64","author":"Shaw","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.06.027_bb0220","doi-asserted-by":"crossref","first-page":"A59","DOI":"10.1136\/annrheumdis-2011-201236.21","article-title":"Expression of alternatively spliced variants of MAP2K4 gene in rheumatoid arthritis","volume":"71","author":"Shchetynsky","year":"2012","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.gene.2013.06.027_bb0225","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","article-title":"Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.gene.2013.06.027_bb0230","doi-asserted-by":"crossref","first-page":"2858","DOI":"10.1074\/jbc.M708306200","article-title":"Identification of the peptide sequences within the EIIIA (EDA) segment of fibronectin that mediate integrin alpha 9 beta 1-dependent cellular activities","volume":"283","author":"Shinde","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.06.027_bb0235","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1093\/rheumatology\/40.7.739","article-title":"Alternatively spliced EDA\u2010containing fibronectin in synovial fluid as a predictor of rheumatoid joint destruction","volume":"40","author":"Shiozawa","year":"2001","journal-title":"Rheumatology"},{"key":"10.1016\/j.gene.2013.06.027_bb0240","doi-asserted-by":"crossref","first-page":"2635","DOI":"10.1242\/jcs.03053","article-title":"The connection between splicing and cancer","volume":"119","author":"Srebrow","year":"2006","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.gene.2013.06.027_bb0245","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00776-005-0975-8","article-title":"Expression of a novel alternatively spliced UCP-2 transcript in osteogenic sarcoma","volume":"11","author":"Srivastava","year":"2006","journal-title":"J. Orthop. Sci."},{"key":"10.1016\/j.gene.2013.06.027_bb0250","doi-asserted-by":"crossref","first-page":"3273","DOI":"10.1007\/s11999-009-1076-3","article-title":"Differential expression of vascular endothelial growth factor in glucocorticoid-related osteonecrosis of the femoral head","volume":"467","author":"Varoga","year":"2009","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0255","doi-asserted-by":"crossref","first-page":"7647","DOI":"10.1158\/0008-5472.CAN-04-1910","article-title":"Aberrant and alternative splicing in cancer","volume":"64","author":"Venables","year":"2004","journal-title":"Cancer Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0260","first-page":"2281","article-title":"Absence of the CD44 gene prevents sarcoma metastasis","volume":"62","author":"Weber","year":"2002","journal-title":"Cancer Res."},{"key":"10.1016\/j.gene.2013.06.027_bb0265","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1002\/art.10421","article-title":"Influence of epitopes CD44v3 and CD44v6 in the invasive behavior of fibroblast-like synoviocytes derived from rheumatoid arthritic joints","volume":"46","author":"Wibulswas","year":"2002","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.gene.2013.06.027_bb0270","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.cca.2009.09.016","article-title":"A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree","volume":"410","author":"Xia","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.gene.2013.06.027_bb0275","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ejhg.2008.219","article-title":"Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda","volume":"17","author":"Xiong","year":"2009","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913007841?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913007841?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T22:53:13Z","timestamp":1539557593000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913007841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0378111913007841"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.06.027","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aberrant and alternative splicing in skeletal system disease","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.06.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}