{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:11Z","timestamp":1790278811433,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Faculty Research Fund of Kyushu University","award":["JA79531457"],"award-info":[{"award-number":["JA79531457"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The International Journal of Biochemistry & Cell Biology"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1016\/j.biocel.2016.10.016","type":"journal-article","created":{"date-parts":[[2016,10,21]],"date-time":"2016-10-21T14:16:29Z","timestamp":1477059389000},"page":"44-47","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"PA","title":["Treacher Collins syndrome: New insights from animal models"],"prefix":"10.1016","volume":"81","author":[{"given":"William Ka Fai","family":"Tse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1\u20133","key":"10.1016\/j.biocel.2016.10.016_bib0005","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.bbamcr.2004.10.003","article-title":"Mechanism and function of deubiquitinating enzymes","volume":"1695","author":"Amerik","year":"2004","journal-title":"Biochim. Biophys. Acta-Mol. Cell Res."},{"issue":"20","key":"10.1016\/j.biocel.2016.10.016_bib0010","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1101\/gad.13.20.2713","article-title":"A large-scale insertional mutagenesis screen in zebrafish","volume":"13","author":"Amsterdam","year":"1999","journal-title":"Genes Dev."},{"key":"10.1016\/j.biocel.2016.10.016_bib0015","first-page":"190","article-title":"Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones","volume":"20","author":"Collins","year":"1900","journal-title":"Trans. Ophthalmol. Soc. U. K."},{"issue":"11","key":"10.1016\/j.biocel.2016.10.016_bib0020","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1016\/j.biocel.2012.07.011","article-title":"Proteasome deubiquitinases as novel targets for cancer therapy","volume":"44","author":"D\u2019Arcy","year":"2012","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.biocel.2016.10.016_bib0025","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.724","article-title":"Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.biocel.2016.10.016_bib0030","first-page":"96","article-title":"Treacher Collins syndrome: correlation between clinical and genetic linkage studies","volume":"3","author":"Dixon","year":"1994","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.biocel.2016.10.016_bib0035","first-page":"515","article-title":"The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon","volume":"60","author":"Edwards","year":"1997","journal-title":"Am. J. Hum. Genet."},{"issue":"19","key":"10.1016\/j.biocel.2016.10.016_bib0040","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1038\/onc.2011.443","article-title":"Deubiquitinases in cancer: new functions and therapeutic options","volume":"31","author":"Fraile","year":"2012","journal-title":"Oncogene"},{"issue":"2","key":"10.1016\/j.biocel.2016.10.016_bib0045","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/nchembio.1136","article-title":"Whole-organism screening for gluconeogenesis identifies activators of fasting metabolism","volume":"9","author":"Gut","year":"2013","journal-title":"Nat. Chem. Biol."},{"issue":"2","key":"10.1016\/j.biocel.2016.10.016_bib0050","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/nm1725","article-title":"Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function","volume":"14","author":"Jones","year":"2008","journal-title":"Nat. Med."},{"issue":"15","key":"10.1016\/j.biocel.2016.10.016_bib0055","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1101\/gad.386106","article-title":"The transcriptional activity of RNA polymerase I is a key determinant for the level of all ribosome components","volume":"20","author":"Laferte","year":"2006","journal-title":"Genes Dev."},{"issue":"7","key":"10.1016\/j.biocel.2016.10.016_bib0060","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1038\/35080045","article-title":"The function and synthesis of ribosomes","volume":"2","author":"Lafontaine","year":"2001","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"6","key":"10.1016\/j.biocel.2016.10.016_bib0065","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/j.bbadis.2016.03.005","article-title":"Pathogenesis of POLR1C-dependent Type 3 Treacher Collins syndrome revealed by a zebrafish model","volume":"1862","author":"Lau","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"issue":"5","key":"10.1016\/j.biocel.2016.10.016_bib0070","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1001\/archotol.1995.01890050009002","article-title":"The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees","volume":"121","author":"Marres","year":"1995","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"issue":"7","key":"10.1016\/j.biocel.2016.10.016_bib0075","doi-asserted-by":"crossref","first-page":"e1006187","DOI":"10.1371\/journal.pgen.1006187","article-title":"The roles of RNA polymerase I and III subunits polr1c and polr1d in craniofacial development and in zebrafish models of treacher collins syndrome","volume":"12","author":"Noack Watt","year":"2016","journal-title":"PLoS Genet."},{"issue":"5","key":"10.1016\/j.biocel.2016.10.016_bib0080","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1111\/j.1469-7580.2005.00473.x","article-title":"Relations and interactions between cranial mesoderm and neural crest populations","volume":"207","author":"Noden","year":"2005","journal-title":"J. Anat."},{"key":"10.1016\/j.biocel.2016.10.016_bib0085","doi-asserted-by":"crossref","first-page":"133","DOI":"10.3389\/fgene.2016.00133","article-title":"DUBbing cancer: deubiquitylating enzymes involved in epigenetics, DNA damage and the cell cycle As therapeutic targets","volume":"7","author":"Pinto-Fernandez","year":"2016","journal-title":"Front. Genet."},{"issue":"1","key":"10.1016\/j.biocel.2016.10.016_bib0090","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/PRS.0000000000001896","article-title":"Treacher collins syndrome: a systematic review of evidence-based treatment and recommendations","volume":"137","author":"Plomp","year":"2016","journal-title":"Plast. Reconstr. Surg."},{"issue":"22","key":"10.1016\/j.biocel.2016.10.016_bib0095","doi-asserted-by":"crossref","first-page":"6068","DOI":"10.1093\/emboj\/cdg579","article-title":"Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses","volume":"22","author":"Rubbi","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.biocel.2016.10.016_bib0100","doi-asserted-by":"crossref","DOI":"10.1111\/dgd.12305","article-title":"Face off against ROS: Tcof1\/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development","author":"Sakai","year":"2016","journal-title":"Dev. Growth Differ."},{"key":"10.1016\/j.biocel.2016.10.016_bib0105","doi-asserted-by":"crossref","first-page":"10328","DOI":"10.1038\/ncomms10328","article-title":"Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation","volume":"7","author":"Sakai","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.biocel.2016.10.016_bib0110","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1038\/gim.2014.12","article-title":"Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome","volume":"16","author":"Schaefer","year":"2014","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.biocel.2016.10.016_bib0115","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1242\/dev.120.3.483","article-title":"Segment and cell type lineage restrictions during pharyngeal arch development in the zebrafish embryo","volume":"120","author":"Schilling","year":"1994","journal-title":"Development"},{"issue":"9","key":"10.1016\/j.biocel.2016.10.016_bib0120","doi-asserted-by":"crossref","first-page":"2204","DOI":"10.1002\/dvdy.22713","article-title":"Examination of a palatogenic gene program in zebrafish","volume":"240","author":"Swartz","year":"2011","journal-title":"Dev. Dyn."},{"issue":"2","key":"10.1016\/j.biocel.2016.10.016_bib0125","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0296-130","article-title":"Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome","volume":"12","author":"The Treacher Collins Syndrome Collaborative Group","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.biocel.2016.10.016_bib0130","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2164-10-637","article-title":"Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development","volume":"10","author":"Tse","year":"2009","journal-title":"Bmc Genomics"},{"issue":"29","key":"10.1016\/j.biocel.2016.10.016_bib0135","doi-asserted-by":"crossref","first-page":"10709","DOI":"10.1073\/pnas.0402492101","article-title":"The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor","volume":"101","author":"Valdez","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.biocel.2016.10.016_bib0140","article-title":"Treacher Collins syndrome: a clinical and molecular study based on a large series of patients","author":"Vincent","year":"2015","journal-title":"Genet. Med."},{"issue":"7570","key":"10.1016\/j.biocel.2016.10.016_bib0145","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/nature14978","article-title":"Cell-fate determination by ubiquitin-dependent regulation of translation","volume":"525","author":"Werner","year":"2015","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.biocel.2016.10.016_bib0150","doi-asserted-by":"crossref","first-page":"e1025185","DOI":"10.1080\/21675511.2015.1025185","article-title":"Ribosomopathies: global process, tissue specific defects","volume":"3","author":"Yelick","year":"2015","journal-title":"Rare Dis."}],"container-title":["The International Journal of Biochemistry & Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272516303259?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1357272516303259?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T07:06:40Z","timestamp":1761203200000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1357272516303259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":30,"alternative-id":["S1357272516303259"],"URL":"https:\/\/doi.org\/10.1016\/j.biocel.2016.10.016","relation":{},"ISSN":["1357-2725"],"issn-type":[{"value":"1357-2725","type":"print"}],"subject":[],"published":{"date-parts":[[2016,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Treacher Collins syndrome: New insights from animal models","name":"articletitle","label":"Article Title"},{"value":"The International Journal of Biochemistry & Cell Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.biocel.2016.10.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}