{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:01:04Z","timestamp":1791327664928,"version":"4.3.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"7521","license":[{"start":{"date-parts":[[2014,8,3]],"date-time":"2014-08-03T00:00:00Z","timestamp":1407024000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1038\/nature13585","type":"journal-article","created":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T13:58:34Z","timestamp":1406901514000},"page":"228-232","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":142,"title":["Inappropriate p53 activation during development induces features of CHARGE syndrome"],"prefix":"10.1038","volume":"514","author":[{"given":"Jeanine L.","family":"Van Nostrand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen A.","family":"Brady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiyoun","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R.","family":"Fuentes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret M.","family":"Kozak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chieh-Yu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Jung","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald L.","family":"Swiderski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannes","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching-Pin","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Wysocka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura D.","family":"Attardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,8,3]]},"reference":[{"key":"BFnature13585_CR1","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1111\/j.1399-0004.1986.tb01258.x","volume":"29","author":"SLH Davenport","year":"1986","unstructured":"Davenport, S. L. H., Hefner, M. A. & Mitchell, J. A. The spectrum of clinical features in CHARGE syndrome. Clin. Genet. 29, 298\u2013310 (1986)","journal-title":"Clin. Genet."},{"key":"BFnature13585_CR2","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1136\/jmg.2005.036061","volume":"43","author":"MCJ Jongmans","year":"2006","unstructured":"Jongmans, M. C. J. et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43, 306\u2013314 (2006)","journal-title":"J. Med. Genet."},{"key":"BFnature13585_CR3","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/j.cell.2011.03.035","volume":"145","author":"CA Brady","year":"2011","unstructured":"Brady, C. A. et al. Distinct p53 transcriptional programs dictate acute DNA-damage responses and tumor suppression. Cell 145, 571\u2013583 (2011)","journal-title":"Cell"},{"key":"BFnature13585_CR4","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1038\/sj.cdd.4401912","volume":"13","author":"JC Marine","year":"2006","unstructured":"Marine, J. C. et al. Keeping p53 in check: essential and synergistic functions of Mdm2 and Mdm4. Cell Death Differ. 13, 927\u2013934 (2006)","journal-title":"Cell Death Differ."},{"key":"BFnature13585_CR5","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/ng1498","volume":"37","author":"TM Johnson","year":"2005","unstructured":"Johnson, T. M., Hammond, E. M., Giaccia, A. & Attardi, L. D. The p53QS transactivation-deficient mutant shows stress-specific apoptotic activity and induces embryonic lethality. Nature Genet. 37, 145\u2013152 (2005)","journal-title":"Nature Genet."},{"key":"BFnature13585_CR6","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/ajmg.a.20526","volume":"123A","author":"KE Brock","year":"2003","unstructured":"Brock, K. E., Mathiason, M. A., Rooney, B. L. & Williams, M. S. Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. Am. J. Med. Genet. A. 123A, 111\u2013121 (2003)","journal-title":"Am. J. Med. Genet. A."},{"key":"BFnature13585_CR7","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1002\/ajmg.a.33323","volume":"152A","author":"GE Zentner","year":"2010","unstructured":"Zentner, G. E., Layman, W. S., Martin, D. M. & Scacheri, P. C. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am. J. Med. Genet. A. 152A, 674\u2013686 (2010)","journal-title":"Am. J. Med. Genet. A."},{"key":"BFnature13585_CR8","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1086\/500273","volume":"78","author":"SR Lalani","year":"2006","unstructured":"Lalani, S. R. et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype\u2013phenotype correlation. Am. J. Hum. Genet. 78, 303\u2013314 (2006)","journal-title":"Am. J. Hum. Genet."},{"key":"BFnature13585_CR9","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1016\/S0022-5347(01)61984-0","volume":"161","author":"DC Ragan","year":"1999","unstructured":"Ragan, D. C., Casale, A. J., Rink, R. C., Cain, M. P. & Weaver, D. D. Genitourinary anomalies in the CHARGE association. J. Urol. 161, 622\u2013625 (1999)","journal-title":"J. Urol."},{"key":"BFnature13585_CR10","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1007\/s00431-009-1126-6","volume":"169","author":"H Inoue","year":"2010","unstructured":"Inoue, H. et al. Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur. J. Pediatr. 169, 839\u2013844 (2010)","journal-title":"Eur. J. Pediatr."},{"key":"BFnature13585_CR11","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1161\/CIRCGENETICS.113.000054","volume":"6","author":"N Corsten-Janssen","year":"2013","unstructured":"Corsten-Janssen, N. et al. The cardiac phenotype in patients with a CHD7 mutation. Circ. Cardiovasc. Genet. 6, 248\u2013254 (2013)","journal-title":"Circ. Cardiovasc. Genet."},{"key":"BFnature13585_CR12","doi-asserted-by":"publisher","first-page":"1827","DOI":"10.1242\/dev.053645","volume":"138","author":"A Rinon","year":"2011","unstructured":"Rinon, A. et al. p53 coordinates cranial neural crest cell growth and epithelial\u2013mesenchymal transition\/delamination processes. Development 138, 1827\u20131838 (2011)","journal-title":"Development"},{"key":"BFnature13585_CR13","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1016\/S0960-9822(95)00183-7","volume":"5","author":"JF Armstrong","year":"1995","unstructured":"Armstrong, J. F., Kaufman, M. H., Harrison, D. J. & Clarke, A. R. High-frequency developmental abnormalities in p53-deficient mice. Curr. Biol. 5, 931\u2013936 (1995)","journal-title":"Curr. Biol."},{"key":"BFnature13585_CR14","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1083\/jcb.200508130","volume":"172","author":"CJ Lengner","year":"2006","unstructured":"Lengner, C. J. et al. Osteoblast differentiation and skeletal development are regulated by Mdm2\u2013p53 signaling. J. Cell Biol. 172, 909\u2013921 (2006)","journal-title":"J. Cell Biol."},{"key":"BFnature13585_CR15","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1136\/jmg.2005.036160","volume":"43","author":"D Sanlaville","year":"2006","unstructured":"Sanlaville, D. et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J. Med. Genet. 43, 211\u2013217 (2006)","journal-title":"J. Med. Genet."},{"key":"BFnature13585_CR16","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1136\/jmedgenet-2012-100926","volume":"49","author":"M Legendre","year":"2012","unstructured":"Legendre, M. et al. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J. Med. Genet. 49, 698\u2013707 (2012)","journal-title":"J. Med. Genet."},{"key":"BFnature13585_CR17","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1093\/nar\/gkm1040","volume":"36","author":"DB Veprintsev","year":"2008","unstructured":"Veprintsev, D. B. & Fersht, A. R. Algorithm for prediction of tumour suppressor p53 affinity for binding sites in DNA. Nucleic Acids Res. 36, 1589\u20131598 (2008)","journal-title":"Nucleic Acids Res."},{"key":"BFnature13585_CR18","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1038\/nature08733","volume":"463","author":"R Bajpai","year":"2010","unstructured":"Bajpai, R. et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463, 958\u2013962 (2010)","journal-title":"Nature"},{"key":"BFnature13585_CR19","doi-asserted-by":"publisher","first-page":"e1001023","DOI":"10.1371\/journal.pgen.1001023","volume":"6","author":"MP Schnetz","year":"2010","unstructured":"Schnetz, M. P. et al. CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression. PLoS Genet. 6, e1001023 (2010)","journal-title":"PLoS Genet."},{"key":"BFnature13585_CR20","doi-asserted-by":"publisher","first-page":"3463","DOI":"10.1093\/hmg\/ddi375","volume":"14","author":"EA Bosman","year":"2005","unstructured":"Bosman, E. A. et al. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum. Mol. Genet. 14, 3463\u20133476 (2005)","journal-title":"Hum. Mol. Genet."},{"key":"BFnature13585_CR21","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1007\/s00335-006-0107-6","volume":"18","author":"E Hurd","year":"2007","unstructured":"Hurd, E. et al. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm. Genome 18, 94\u2013104 (2007)","journal-title":"Mamm. Genome"},{"key":"BFnature13585_CR22","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1002\/cne.21460","volume":"504","author":"ME Adams","year":"2007","unstructured":"Adams, M. E. et al. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome. J. Comp. Neurol. 504, 519\u2013532 (2007)","journal-title":"J. Comp. Neurol."},{"key":"BFnature13585_CR23","first-page":"1663","volume":"27","author":"AK Morimoto","year":"2006","unstructured":"Morimoto, A. K. et al. Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am. J. Neuroradiol. 27, 1663\u20131671 (2006)","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"BFnature13585_CR24","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/378203a0","volume":"378","author":"RM de Oca Luna","year":"1995","unstructured":"de Oca Luna, R. M., Wagner, D. S. & Lozano, G. Rescue of early embryonic lethality in mdm2-deficient mice by deletion of p53. Nature 378, 203\u2013206 (1995)","journal-title":"Nature"},{"key":"BFnature13585_CR25","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1128\/MCB.23.2.462-473.2003","volume":"23","author":"SM Mendrysa","year":"2003","unstructured":"Mendrysa, S. M. et al. mdm2 is critical for inhibition of p53 during lymphopoiesis and the response to ionizing irradiation. Mol. Cell. Biol. 23, 462\u2013472 (2003)","journal-title":"Mol. Cell. Biol."},{"key":"BFnature13585_CR26","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1101\/gad.1378506","volume":"20","author":"SM Mendrysa","year":"2006","unstructured":"Mendrysa, S. M. et al. Tumor suppression and normal aging in mice with constitutively high p53 activity. Genes Dev. 20, 16\u201321 (2006)","journal-title":"Genes Dev."},{"key":"BFnature13585_CR27","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1038\/415045a","volume":"415","author":"SD Tyner","year":"2002","unstructured":"Tyner, S. D. et al. p53 mutant mice that display early ageing-associated phenotypes. Nature 415, 45\u201353 (2002)","journal-title":"Nature"},{"key":"BFnature13585_CR28","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ydbio.2013.07.026","volume":"382","author":"SA Balow","year":"2013","unstructured":"Balow, S. A. et al. Knockdown of fbxl10\/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. Dev. Biol. 382, 57\u201369 (2013)","journal-title":"Dev. Biol."},{"key":"BFnature13585_CR29","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","volume":"4","author":"N Corsten-Janssen","year":"2013","unstructured":"Corsten-Janssen, N. et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol. Syndromol. 4, 235\u2013245 (2013)","journal-title":"Mol. Syndromol."},{"key":"BFnature13585_CR30","doi-asserted-by":"crossref","unstructured":"Jones, N. C. et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nature Med.14. 125\u2013133 (2008)","DOI":"10.1038\/nm1725"},{"key":"BFnature13585_CR31","doi-asserted-by":"publisher","first-page":"5080","DOI":"10.1093\/nar\/23.24.5080","volume":"23","author":"F Schwenk","year":"1995","unstructured":"Schwenk, F., Baron, U. & Rajewsky, K. A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucleic Acids Res. 23, 5080\u20135081 (1995)","journal-title":"Nucleic Acids Res."},{"key":"BFnature13585_CR32","first-page":"223","volume":"137","author":"T Sato","year":"2000","unstructured":"Sato, T. & Bartunkova, S. Analysis of embryonic vascular morphogenesis. Methods Mol. Biol. 137, 223\u2013233 (2000)","journal-title":"Methods Mol. Biol."},{"key":"BFnature13585_CR33","doi-asserted-by":"publisher","unstructured":"Ovchinnikov, D. Alcian blue\/alizarin red staining of cartilage and bone in mouse. Cold Spring Harb. Protoc. http:\/\/dx.doi.org\/10.1101\/pdb.prot5170 (March 2009)","DOI":"10.1101\/pdb.prot5170"},{"key":"BFnature13585_CR34","doi-asserted-by":"publisher","first-page":"3139","DOI":"10.1242\/dev.047894","volume":"137","author":"EA Hurd","year":"2010","unstructured":"Hurd, E. A., Poucher, H. K., Cheng, K., Raphael, Y. & Martin, D. M. The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development 137, 3139\u20133150 (2010)","journal-title":"Development"},{"key":"BFnature13585_CR35","first-page":"2461","volume":"12","author":"D Lane","year":"1996","unstructured":"Lane, D. et al. Epitope analysis of the murine p53 tumour suppressor protein. Oncogene 12, 2461\u20132466 (1996)","journal-title":"Oncogene"},{"key":"BFnature13585_CR36","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1016\/j.stem.2012.07.006","volume":"11","author":"A Rada-Iglesias","year":"2012","unstructured":"Rada-Iglesias, A. et al. Epigenomic annotation of enhancers predicts transcriptional regulators of human neural crest. Cell Stem Cell 11, 633\u2013648 (2012)","journal-title":"Cell Stem Cell"},{"key":"BFnature13585_CR37","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1101\/gad.212282.112","volume":"27","author":"D Kenzelmann Broz","year":"2013","unstructured":"Kenzelmann Broz, D. et al. Global genomic profiling reveals an extensive p53-regulated autophagy program contributing to key p53 responses. Genes Dev. 27, 1016\u20131031 (2013)","journal-title":"Genes Dev."}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nature13585.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nature13585","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nature13585.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T17:45:19Z","timestamp":1689443119000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nature13585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,3]]},"references-count":37,"journal-issue":{"issue":"7521","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["BFnature13585"],"URL":"https:\/\/doi.org\/10.1038\/nature13585","relation":{},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,3]]},"assertion":[{"value":"23 July 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 August 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}