{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:27:11Z","timestamp":1791275231735,"version":"4.1.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1038\/nm1725","type":"journal-article","created":{"date-parts":[[2008,2,3]],"date-time":"2008-02-03T15:01:41Z","timestamp":1202050901000},"page":"125-133","source":"Crossref","is-referenced-by-count":408,"title":["Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function"],"prefix":"10.1038","volume":"14","author":[{"given":"Natalie C","family":"Jones","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan L","family":"Lynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Gaudenz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushi","family":"Aoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Phillipe","family":"Rey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Earl F","family":"Glynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lacey","family":"Ellington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunying","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A","family":"Trainor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,2,3]]},"reference":[{"key":"BFnm1725_CR1","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1111\/j.1365-2273.1981.tb01782.x","volume":"6","author":"PD Phelps","year":"1981","unstructured":"Phelps, P.D., Poswillo, D. & Lloyd, G.A. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin. Otolaryngol. 6, 15\u201328 (1981).","journal-title":"Clin. Otolaryngol."},{"key":"BFnm1725_CR2","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/S0022-3476(64)80522-9","volume":"65","author":"S Rovin","year":"1964","unstructured":"Rovin, S., Dachi, S.F., Borenstein, D.B. & Cotter, W.B. Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr. 65, 215\u2013221 (1964).","journal-title":"J. Pediatr."},{"key":"BFnm1725_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1001\/archpedi.1967.02090190051001","volume":"113","author":"LE Fazen","year":"1967","unstructured":"Fazen, L.E., Elmore, J. & Nadler, H.L. Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am. J. Dis. Child. 113, 405\u2013410 (1967).","journal-title":"Am. J. Dis. Child."},{"key":"BFnm1725_CR4","first-page":"515","volume":"60","author":"SJ Edwards","year":"1997","unstructured":"Edwards, S.J., Gladwin, A.J. & Dixon, M.J. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 60, 515\u2013524 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnm1725_CR5","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1093\/hmg\/5.10.1533","volume":"5","author":"AJ Gladwin","year":"1996","unstructured":"Gladwin, A.J. et al. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet. 5, 1533\u20131538 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFnm1725_CR6","doi-asserted-by":"crossref","unstructured":"The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat. Genet. 12, 130\u2013136 (1996).","DOI":"10.1038\/ng0296-130"},{"key":"BFnm1725_CR7","doi-asserted-by":"publisher","first-page":"3110","DOI":"10.1073\/pnas.94.7.3110","volume":"94","author":"CA Wise","year":"1997","unstructured":"Wise, C.A. et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc. Natl. Acad. Sci. USA 94, 3110\u20133115 (1997).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm1725_CR8","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/0092-8674(92)90539-O","volume":"70","author":"UT Meier","year":"1992","unstructured":"Meier, U.T. & Blobel, G. Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell 70, 127\u2013138 (1992).","journal-title":"Cell"},{"key":"BFnm1725_CR9","doi-asserted-by":"publisher","first-page":"10709","DOI":"10.1073\/pnas.0402492101","volume":"101","author":"BC Valdez","year":"2004","unstructured":"Valdez, B.C., Henning, D., So, R.B., Dixon, J. & Dixon, M.J. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc. Natl. Acad. Sci. USA 101, 10709\u201310714 (2004).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm1725_CR10","doi-asserted-by":"publisher","first-page":"34309","DOI":"10.1074\/jbc.M304304200","volume":"278","author":"T Hayano","year":"2003","unstructured":"Hayano, T. et al. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. J. Biol. Chem. 278, 34309\u201334319 (2003).","journal-title":"J. Biol. Chem."},{"key":"BFnm1725_CR11","doi-asserted-by":"publisher","first-page":"13403","DOI":"10.1073\/pnas.0603730103","volume":"103","author":"J Dixon","year":"2006","unstructured":"Dixon, J. et al. Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc. Natl. Acad. Sci. USA 103, 13403\u201313408 (2006).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm1725_CR12","first-page":"195","volume":"1","author":"L Zhao","year":"2003","unstructured":"Zhao, L. et al. Cyclin G1 has growth inhibitory activity linked to the ARF-Mdm2-p53 and pRb tumor suppressor pathways. Mol. Cancer Res. 1, 195\u2013206 (2003).","journal-title":"Mol. Cancer Res."},{"key":"BFnm1725_CR13","doi-asserted-by":"publisher","first-page":"37722","DOI":"10.1074\/jbc.M301979200","volume":"278","author":"R Tomasini","year":"2003","unstructured":"Tomasini, R. et al. TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are partners in regulating p53 activity. J. Biol. Chem. 278, 37722\u201337729 (2003).","journal-title":"J. Biol. Chem."},{"key":"BFnm1725_CR14","doi-asserted-by":"publisher","first-page":"9235","DOI":"10.1158\/0008-5472.CAN-06-0702","volume":"66","author":"E Aleo","year":"2006","unstructured":"Aleo, E., Henderson, C.J., Fontanini, A., Solazzo, B. & Brancolini, C. Identification of new compounds that trigger apoptosome-independent caspase activation and apoptosis. Cancer Res. 66, 9235\u20139244 (2006).","journal-title":"Cancer Res."},{"key":"BFnm1725_CR15","first-page":"1048","volume":"1","author":"EE Reczek","year":"2003","unstructured":"Reczek, E.E., Flores, E.R., Tsay, A.S., Attardi, L.D. & Jacks, T. Multiple response elements and differential p53 binding control Perp expression during apoptosis. Mol. Cancer Res. 1, 1048\u20131057 (2003).","journal-title":"Mol. Cancer Res."},{"key":"BFnm1725_CR16","doi-asserted-by":"publisher","first-page":"1991","DOI":"10.1093\/nar\/30.9.1991","volume":"30","author":"C Mendez-Vidal","year":"2002","unstructured":"Mendez-Vidal, C., Wilhelm, M.T., Hellborg, F., Qian, W. & Wiman, K.G. The p53-induced mouse zinc finger protein wig-1 binds double-stranded RNA with high affinity. Nucleic Acids Res. 30, 1991\u20131996 (2002).","journal-title":"Nucleic Acids Res."},{"key":"BFnm1725_CR17","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/S0092-8674(00)81871-1","volume":"88","author":"AJ Levine","year":"1997","unstructured":"Levine, A.J. p53, the cellular gatekeeper for growth and division. Cell 88, 323\u2013331 (1997).","journal-title":"Cell"},{"key":"BFnm1725_CR18","doi-asserted-by":"publisher","first-page":"27474","DOI":"10.1074\/jbc.274.39.27474","volume":"274","author":"A Zaika","year":"1999","unstructured":"Zaika, A., Marchenko, N. & Moll, U.M. Cytoplasmically 'sequestered' wild type p53 protein is resistant to Mdm2-mediated degradation. J. Biol. Chem. 274, 27474\u201327480 (1999).","journal-title":"J. Biol. Chem."},{"key":"BFnm1725_CR19","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/S1534-5807(02)00221-6","volume":"3","author":"T Burstyn-Cohen","year":"2002","unstructured":"Burstyn-Cohen, T. & Kalcheim, C. Association between the cell cycle and neural crest delamination through specific regulation of G1\/S transition. Dev. Cell 3, 383\u2013395 (2002).","journal-title":"Dev. Cell"},{"key":"BFnm1725_CR20","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1126\/science.285.5434.1733","volume":"285","author":"PG Komarov","year":"1999","unstructured":"Komarov, P.G. et al. A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy. Science 285, 1733\u20131737 (1999).","journal-title":"Science"},{"key":"BFnm1725_CR21","doi-asserted-by":"publisher","first-page":"5930","DOI":"10.1128\/MCB.20.16.5930-5938.2000","volume":"20","author":"W Zhai","year":"2000","unstructured":"Zhai, W. & Comai, L. Repression of RNA polymerase I transcription by the tumor suppressor p53. Mol. Cell. Biol. 20, 5930\u20135938 (2000).","journal-title":"Mol. Cell. Biol."},{"key":"BFnm1725_CR22","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/356215a0","volume":"356","author":"LA Donehower","year":"1992","unstructured":"Donehower, L.A. et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 356, 215\u2013221 (1992).","journal-title":"Nature"},{"key":"BFnm1725_CR23","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/j.cell.2005.01.008","volume":"120","author":"RA Ihrie","year":"2005","unstructured":"Ihrie, R.A. et al. Perp is a p63-regulated gene essential for epithelial integrity. Cell 120, 843\u2013856 (2005).","journal-title":"Cell"},{"key":"BFnm1725_CR24","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1053\/jhep.2003.50137","volume":"37","author":"MR Jensen","year":"2003","unstructured":"Jensen, M.R. et al. Reduced hepatic tumor incidence in cyclin G1\u2013deficient mice. Hepatology 37, 862\u2013870 (2003).","journal-title":"Hepatology"},{"key":"BFnm1725_CR25","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1046\/j.1365-2443.2002.00564.x","volume":"7","author":"SH Kimura","year":"2002","unstructured":"Kimura, S.H. & Nojima, H. Cyclin G1 associates with MDM2 and regulates accumulation and degradation of p53 protein. Genes Cells 7, 869\u2013880 (2002).","journal-title":"Genes Cells"},{"key":"BFnm1725_CR26","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1093\/hmg\/9.10.1473","volume":"9","author":"J Dixon","year":"2000","unstructured":"Dixon, J., Brakebusch, C., Fassler, R. & Dixon, M.J. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum. Mol. Genet. 9, 1473\u20131480 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"BFnm1725_CR27","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1128\/MCB.23.3.916-922.2003","volume":"23","author":"L Nonn","year":"2003","unstructured":"Nonn, L., Williams, R.R., Erickson, R.P. & Powis, G. The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol. Cell. Biol. 23, 916\u2013922 (2003).","journal-title":"Mol. Cell. Biol."},{"key":"BFnm1725_CR28","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1101\/gad.969302","volume":"16","author":"L Pani","year":"2002","unstructured":"Pani, L., Horal, M. & Loeken, M.R. Rescue of neural tube defects in Pax-3\u2013deficient embryos by p53 loss of function: implications for Pax-3\u2013dependent development and tumorigenesis. Genes Dev. 16, 676\u2013680 (2002).","journal-title":"Genes Dev."},{"key":"BFnm1725_CR29","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/nrc1015","volume":"3","author":"D Ruggero","year":"2003","unstructured":"Ruggero, D. & Pandolfi, P.P. Does the ribosome translate cancer? Nat. Rev. Cancer 3, 179\u2013192 (2003).","journal-title":"Nat. Rev. Cancer"},{"key":"BFnm1725_CR30","doi-asserted-by":"publisher","first-page":"6225","DOI":"10.1093\/emboj\/cdf595","volume":"21","author":"I Garcia-Cao","year":"2002","unstructured":"Garcia-Cao, I. et al. \u201cSuper p53\u201d mice exhibit enhanced DNA damage response, are tumor resistant and age normally. EMBO J. 21, 6225\u20136235 (2002).","journal-title":"EMBO J."},{"key":"BFnm1725_CR31","volume-title":"The Atlas of Mouse Development","author":"MH Kaufman","year":"1992","unstructured":"Kaufman, M.H . The Atlas of Mouse Development, 507 (Academic Press, London, 1992)."},{"key":"BFnm1725_CR32","volume-title":"Manipulating the Mouse Embryo","author":"A Nagy","year":"2003","unstructured":"Nagy, A., Gertsenstein, M., Vintersten, K. & Behringer, R.R. Manipulating the Mouse Embryo, Ch.16 (Cold Spring Harbor Laboratory, Cold Spring Harbor, 2003)."},{"key":"BFnm1725_CR33","doi-asserted-by":"publisher","first-page":"3683","DOI":"10.1093\/bioinformatics\/bti605","volume":"21","author":"CL Wilson","year":"2005","unstructured":"Wilson, C.L. & Miller, C.J. Simpleaffy: a BioConductor package for Affymetrix Quality Control and data analysis. Bioinformatics 21, 3683\u20133685 (2005).","journal-title":"Bioinformatics"},{"key":"BFnm1725_CR34","unstructured":"R Development Core Team. A language and environment for statistical computing. The R Project for Statistical Computing. &lt;\n                    http:\/\/www.R-project.org\n                    \n                  &gt; (2006)."},{"key":"BFnm1725_CR35","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak, K.J. & Schmittgen, T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2-\u0394\u0394CT method. Methods 25, 402\u2013408 (2001).","journal-title":"Methods"},{"key":"BFnm1725_CR36","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/dvdy.10473","volume":"229","author":"CE Krull","year":"2004","unstructured":"Krull, C.E. A primer on using in ovo electroporation to analyze gene function. Dev. Dyn. 229, 433\u2013439 (2004).","journal-title":"Dev. Dyn."},{"key":"BFnm1725_CR37","doi-asserted-by":"publisher","first-page":"6050","DOI":"10.1074\/jbc.271.11.6050","volume":"271","author":"MC Horne","year":"1996","unstructured":"Horne, M.C. et al. Cyclin G1 and cyclin G2 comprise a new family of cyclins with contrasting tissue-specific and cell cycle-regulated expression. J. Biol. Chem. 271, 6050\u20136061 (1996).","journal-title":"J. Biol. Chem."}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nm1725.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm1725","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm1725.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:31:02Z","timestamp":1684434662000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nm1725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["BFnm1725"],"URL":"https:\/\/doi.org\/10.1038\/nm1725","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1099437.559581","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1099437.555699","asserted-by":"object"}]},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2]]}}}