{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T02:02:07Z","timestamp":1783389727332,"version":"3.54.6"},"reference-count":39,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K10376"],"award-info":[{"award-number":["19K10376"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K10239"],"award-info":[{"award-number":["22K10239"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007951","name":"Tokyo Medical and Dental University","doi-asserted-by":"publisher","award":["D2014-002"],"award-info":[{"award-number":["D2014-002"]}],"id":[{"id":"10.13039\/501100007951","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Oral Biosciences"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.job.2024.01.008","type":"journal-article","created":{"date-parts":[[2024,1,20]],"date-time":"2024-01-20T05:42:50Z","timestamp":1705729370000},"page":"225-231","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2169-9848","authenticated-orcid":false,"given":"Ryoto","family":"Machida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0329-2136","authenticated-orcid":false,"given":"Takuya","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3207-4306","authenticated-orcid":false,"given":"Kyaw","family":"Min Soe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0580-4510","authenticated-orcid":false,"given":"Keiji","family":"Moriyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.job.2024.01.008_bib1","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1038\/jhg.2014.24","article-title":"Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells","volume":"59","author":"Surapornsawasd","year":"2014","journal-title":"J Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib2","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1007\/s00439-018-1896-x","article-title":"Expanding the phenotype of the X-linked BCOR microphthalmia syndromes","volume":"138","author":"Ragge","year":"2019","journal-title":"Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib3","doi-asserted-by":"crossref","first-page":"169","DOI":"10.4103\/0971-6866.73416","article-title":"Oculo-facio-cardio-dental syndrome in a girl and her mother","volume":"16","author":"Rudrappa","year":"2010","journal-title":"Indian J Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib4","doi-asserted-by":"crossref","first-page":"e220","DOI":"10.1016\/j.oooo.2018.02.011","article-title":"Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome","volume":"126","author":"Smith","year":"2018","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"10.1016\/j.job.2024.01.008_bib5","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1038\/ejhg.2009.52","article-title":"BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects","volume":"17","author":"Hilton","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib6","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1101\/gad.14.14.1810","article-title":"BcoR, a novel corepressor involved in BCL-6 repression","volume":"14","author":"Huynh","year":"2000","journal-title":"Genes Dev"},{"key":"10.1016\/j.job.2024.01.008_bib7","doi-asserted-by":"crossref","first-page":"6880","DOI":"10.1128\/MCB.00630-06","article-title":"Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets","volume":"26","author":"Gearhart","year":"2006","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.job.2024.01.008_bib8","doi-asserted-by":"crossref","first-page":"3395","DOI":"10.1038\/sj.onc.1206361","article-title":"The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 co-repressor","volume":"22","author":"Srinivasan","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.job.2024.01.008_bib9","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/jhg.2012.4","article-title":"A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS","volume":"57","author":"Kondo","year":"2012","journal-title":"J Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib10","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/cge.12125","article-title":"Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome","volume":"85","author":"Feberwee","year":"2014","journal-title":"Clin Genet"},{"key":"10.1016\/j.job.2024.01.008_bib11","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ceb.2005.03.002","article-title":"Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells","volume":"17","author":"Lejeune","year":"2005","journal-title":"Curr Opin Cell Biol"},{"key":"10.1016\/j.job.2024.01.008_bib12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.5483\/BMBRep.2017.50.4.015","article-title":"Nonsense-mediated mRNA decay at the crossroads of many cellular pathways","volume":"50","author":"Lejeune","year":"2017","journal-title":"BMB Rep"},{"key":"10.1016\/j.job.2024.01.008_bib13","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.molmed.2006.05.005","article-title":"Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges","volume":"12","author":"Kuzmiak","year":"2006","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.job.2024.01.008_bib14","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/sj.ejhg.5201649","article-title":"Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease","volume":"14","author":"Khajavi","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.job.2024.01.008_bib15","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.semcdb.2017.08.053","article-title":"Beyond quality control: the role of nonsense-mediated mRNA decay (NMD) in regulating gene expression","volume":"75","author":"Nasif","year":"2018","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.job.2024.01.008_bib16","first-page":"55","article-title":"Up-frameshift protein 1 (UPF1): multitalented entertainer in RNA decay","volume":"6","author":"Imamachi","year":"2012","journal-title":"Drug Discov Ther"},{"key":"10.1016\/j.job.2024.01.008_bib17","doi-asserted-by":"crossref","DOI":"10.1016\/j.molcel.2017.05.034","article-title":"The RNA surveillance factor UPF1 represses myogenesis via its E3 ubiquitin ligase activity","volume":"67","author":"Feng","year":"2017","journal-title":"Mol Cell"},{"key":"10.1016\/j.job.2024.01.008_bib18","doi-asserted-by":"crossref","first-page":"6652","DOI":"10.1038\/s41598-019-43148-z","article-title":"UPF1 inhibits the hepatocellular carcinoma progression by targeting long non-coding RNA UCA1","volume":"9","author":"Zhou","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.job.2024.01.008_bib19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.bbrc.2018.10.158","article-title":"Nuclear import of transcriptional corepressor BCOR occurs through interaction with karyopherin \u03b1 expressed in human periodontal ligament","volume":"507","author":"Myat","year":"2018","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.job.2024.01.008_bib20","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2022.946282","article-title":"Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome","volume":"13","author":"Min Soe","year":"2022","journal-title":"Front Physiol"},{"key":"10.1016\/j.job.2024.01.008_bib21","doi-asserted-by":"crossref","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 C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.job.2024.01.008_bib22","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.tig.2020.11.002","article-title":"To NMD or not to NMD: nonsense-mediated mRNA decay in cancer and other genetic diseases","volume":"37","author":"Supek","year":"2021","journal-title":"Trends Genet"},{"key":"10.1016\/j.job.2024.01.008_bib23","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.mrrev.2014.05.001","article-title":"Nonsense-mediated decay in genetic disease: friend or foe?","volume":"762","author":"Miller","year":"2014","journal-title":"Mutat Res Rev Mutat Res"},{"key":"10.1016\/j.job.2024.01.008_bib24","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.molmed.2012.06.006","article-title":"Pre-mRNA splicing in disease and therapeutics","volume":"18","author":"Singh","year":"2012","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.job.2024.01.008_bib25","doi-asserted-by":"crossref","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":"10.1016\/j.job.2024.01.008_bib26","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.job.2024.01.008_bib27","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1172\/JCI115244","article-title":"Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe","volume":"87","author":"Matsuo","year":"1991","journal-title":"J Clin Invest"},{"key":"10.1016\/j.job.2024.01.008_bib28","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/S0387-7604(01)00326-6","article-title":"Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient","volume":"23","author":"Takeshima","year":"2001","journal-title":"Brain Dev"},{"key":"10.1016\/j.job.2024.01.008_bib29","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ydbio.2020.06.013","article-title":"OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR","volume":"468","author":"Hamline","year":"2020","journal-title":"Dev Biol"},{"key":"10.1016\/j.job.2024.01.008_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.eplepsyres.2022.107036","article-title":"BCOR variants are associated with X-linked recessive partial epilepsy","volume":"187","author":"Li","year":"2022","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.job.2024.01.008_bib31","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/ijos.2012.61","article-title":"Molecular regulatory mechanism of tooth root development","volume":"4","author":"Huang","year":"2012","journal-title":"Int J Oral Sci"},{"key":"10.1016\/j.job.2024.01.008_bib32","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1600-0765.2006.00880.x","article-title":"The epithelial cell rests of Malassez\u2014a role in periodontal regeneration?","volume":"41","author":"Rincon","year":"2006","journal-title":"J Periodontal Res"},{"key":"10.1016\/j.job.2024.01.008_bib33","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/clr.12543","article-title":"Cell-to-cell communication\u2014periodontal regeneration","volume":"26","author":"Bosshardt","year":"2015","journal-title":"Clin Oral Implants Res"},{"key":"10.1016\/j.job.2024.01.008_bib34","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1177\/154405910308200305","article-title":"Expression of bone morphogenetic proteins and Msx genes during root formation","volume":"82","author":"Yamashiro","year":"2003","journal-title":"J Dent Res"},{"key":"10.1016\/j.job.2024.01.008_bib35","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.archoralbio.2007.07.005","article-title":"Role of BMP-4 during tooth development in a model with complete dentition","volume":"53","author":"Torres","year":"2008","journal-title":"Arch Oral Biol"},{"key":"10.1016\/j.job.2024.01.008_bib36","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1177\/0022034512448660","article-title":"BMP activity is required for tooth development from the lamina to bud stage","volume":"91","author":"Wang","year":"2012","journal-title":"J Dent Res"},{"key":"10.1016\/j.job.2024.01.008_bib37","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2021.660644","article-title":"Epithelial bone morphogenic Protein 2 and 4 are indispensable for tooth development","volume":"12","author":"Mu","year":"2021","journal-title":"Front Physiol"},{"key":"10.1016\/j.job.2024.01.008_bib38","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ijos.2013.41","article-title":"Bone morphogenetic protein-2 gene controls tooth root development in coordination with formation of the periodontium","volume":"5","author":"Rakian","year":"2013","journal-title":"Int J Oral Sci"},{"key":"10.1016\/j.job.2024.01.008_bib39","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1016\/j.febslet.2015.05.046","article-title":"Identification of nuclear localization signals within the human BCOR protein","volume":"589","author":"Surapornsawasd","year":"2015","journal-title":"FEBS Lett"}],"updated-by":[{"DOI":"10.1016\/j.job.2024.03.003","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000}}],"container-title":["Journal of Oral Biosciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1349007924000082?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1349007924000082?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T16:08:05Z","timestamp":1710432485000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1349007924000082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S1349007924000082"],"URL":"https:\/\/doi.org\/10.1016\/j.job.2024.01.008","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.job.2024.03.003","asserted-by":"object"}]},"ISSN":["1349-0079"],"issn-type":[{"value":"1349-0079","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1","name":"articletitle","label":"Article Title"},{"value":"Journal of Oral Biosciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.job.2024.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Japanese Association for Oral Biology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}