{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T22:34:15Z","timestamp":1792276455274,"version":"4.4.0"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1016\/j.exer.2013.03.007","type":"journal-article","created":{"date-parts":[[2013,3,21]],"date-time":"2013-03-21T02:30:51Z","timestamp":1363833051000},"page":"9-16","source":"Crossref","is-referenced-by-count":151,"special_numbering":"C","title":["The homeobox gene Otx2 in development and disease"],"prefix":"10.1016","volume":"111","author":[{"given":"Francis","family":"Beby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lamonerie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2013.03.007_bib1","doi-asserted-by":"crossref","first-page":"3279","DOI":"10.1242\/dev.121.10.3279","article-title":"Forebrain and midbrain regions are deleted in Otx2\u2212\/\u2212 mutants due to a defective anterior neuroectoderm specification during gastrulation","volume":"121","author":"Acampora","year":"1995","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib2","doi-asserted-by":"crossref","first-page":"4570","DOI":"10.1167\/iovs.04-0697","article-title":"Otx2 homeobox gene induces photoreceptor-specific phenotypes in cells derived from adult iris and ciliary tissue","volume":"45","author":"Akagi","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2013.03.007_bib3","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1242\/dev.122.1.243","article-title":"A\u00a0targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain","volume":"122","author":"Ang","year":"1996","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib4","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1007\/s00439-010-0820-9","article-title":"A\u00a0novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency","volume":"127","author":"Ashkenazi-Hoffnung","year":"2010","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2013.03.007_bib5","doi-asserted-by":"crossref","first-page":"5988","DOI":"10.1158\/0008-5472.CAN-12-0614","article-title":"OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells","volume":"72","author":"Bai","year":"2012","journal-title":"Cancer Res."},{"key":"10.1016\/j.exer.2013.03.007_bib6","doi-asserted-by":"crossref","first-page":"e11673","DOI":"10.1371\/journal.pone.0011673","article-title":"Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration","volume":"5","author":"Beby","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2013.03.007_bib7","doi-asserted-by":"crossref","first-page":"9429","DOI":"10.1523\/JNEUROSCI.0394-12.2012","article-title":"Otx2 binding to perineuronal nets persistently regulates plasticity in the mature visual cortex","volume":"32","author":"Beurdeley","year":"2012","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.exer.2013.03.007_bib8","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1158\/0008-5472.703.65.3","article-title":"Genomic amplification of orthodenticle homologue 2 in medulloblastomas","volume":"65","author":"Boon","year":"2005","journal-title":"Cancer Res."},{"key":"10.1016\/j.exer.2013.03.007_bib9","doi-asserted-by":"crossref","first-page":"4243","DOI":"10.1523\/JNEUROSCI.17-11-04243.1997","article-title":"Implication of OTX2 in pigment epithelium determination and neural retina differentiation","volume":"17","author":"Bovolenta","year":"1997","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.exer.2013.03.007_bib10","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1242\/dev.043968","article-title":"Blimp1 controls photoreceptor versus bipolar cell fate choice during retinal development","volume":"137","author":"Brzezinski","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib11","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1136\/jmedgenet-2012-100892","article-title":"OTX2 mutations contribute to the otocephaly-dysgnathia complex","volume":"49","author":"Chassaing","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.exer.2013.03.007_bib12","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1007\/s00109-006-0048-2","article-title":"Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants","volume":"84","author":"Chatelain","year":"2006","journal-title":"J.\u00a0Mol. Med."},{"key":"10.1016\/j.exer.2013.03.007_bib13","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/bies.10097","article-title":"Embryonic origin of the eyes in teleost fish","volume":"24","author":"Chuang","year":"2002","journal-title":"Bioessays"},{"key":"10.1016\/j.exer.2013.03.007_bib14","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1046\/j.1471-4159.2003.01583.x","article-title":"New Otx2 mRNA isoforms expressed in the mouse brain","volume":"84","author":"Courtois","year":"2003","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.exer.2013.03.007_bib15","doi-asserted-by":"crossref","first-page":"3697","DOI":"10.1210\/jc.2008-0720","article-title":"OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters","volume":"93","author":"Dateki","year":"2008","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.exer.2013.03.007_bib16","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1210\/jc.2009-1334","article-title":"Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype","volume":"95","author":"Dateki","year":"2010","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.exer.2013.03.007_bib17","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1097\/01.jnen.0000199576.70923.8a","article-title":"OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas","volume":"65","author":"de Haas","year":"2006","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.exer.2013.03.007_bib18","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1158\/0008-5472.919.65.3","article-title":"Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid","volume":"65","author":"Di","year":"2005","journal-title":"Cancer Res."},{"key":"10.1016\/j.exer.2013.03.007_bib19","doi-asserted-by":"crossref","first-page":"4351","DOI":"10.1210\/jc.2008-1189","article-title":"A\u00a0novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency","volume":"93","author":"Diaczok","year":"2008","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.exer.2013.03.007_bib20","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ydbio.2011.09.012","article-title":"Identification of a retina-specific Otx2 enhancer element active in immature developing photoreceptors","volume":"360","author":"Emerson","year":"2011","journal-title":"Dev. Biol."},{"key":"10.1016\/j.exer.2013.03.007_bib21","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1002\/dvdy.20287","article-title":"Alternative usage of Otx2 promoters during mouse development","volume":"233","author":"Fossat","year":"2005","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.exer.2013.03.007_bib22","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1038\/sj.embor.7400751","article-title":"Temporal and spatial delineation of mouse Otx2 functions by conditional self-knockout","volume":"7","author":"Fossat","year":"2006","journal-title":"EMBO Rep."},{"key":"10.1016\/j.exer.2013.03.007_bib23","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/1471-213X-7-122","article-title":"A\u00a0new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors","volume":"7","author":"Fossat","year":"2007","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.exer.2013.03.007_bib24","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/70591","article-title":"Retinopathy and attenuated circadian entrainment in Crx-deficient mice","volume":"23","author":"Furukawa","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2013.03.007_bib25","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1530\/EJE-12-0333","article-title":"A\u00a0novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve","volume":"167","author":"Gorbenko Del Blanco","year":"2012","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.exer.2013.03.007_bib26","first-page":"2442","article-title":"A\u00a0rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction","volume":"15","author":"Henderson","year":"2009","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2013.03.007_bib27","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1210\/mend.14.8.0509","article-title":"The Otx2 homeoprotein regulates expression from the gonadotropin-releasing hormone proximal promoter","volume":"14","author":"Kelley","year":"2000","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.exer.2013.03.007_bib28","doi-asserted-by":"crossref","first-page":"8318","DOI":"10.1128\/MCB.01209-07","article-title":"Functional roles of Otx2 transcription factor in postnatal mouse retinal development","volume":"27","author":"Koike","year":"2007","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.exer.2013.03.007_bib29","doi-asserted-by":"crossref","first-page":"3319","DOI":"10.1242\/dev.01220","article-title":"Regulation of Otx2 expression and its functions in mouse forebrain and midbrain","volume":"131","author":"Kurokawa","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib30","doi-asserted-by":"crossref","first-page":"3307","DOI":"10.1242\/dev.01219","article-title":"Regulation of Otx2 expression and its functions in mouse epiblast and anterior neuroectoderm","volume":"131","author":"Kurokawa","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib31","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1369\/jhc.2010.955757","article-title":"Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain","volume":"58","author":"Larsen","year":"2010","journal-title":"J.\u00a0Histochem. Cytochem."},{"key":"10.1016\/j.exer.2013.03.007_bib32","doi-asserted-by":"crossref","first-page":"21721","DOI":"10.1074\/jbc.M301708200","article-title":"OTX2 activates the molecular network underlying retina pigment epithelium differentiation","volume":"278","author":"Martinez-Morales","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.exer.2013.03.007_bib33","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1101\/gad.9.21.2646","article-title":"Mouse Otx2 functions in the formation and patterning of rostral head","volume":"9","author":"Matsuo","year":"1995","journal-title":"Genes Dev."},{"key":"10.1016\/j.exer.2013.03.007_bib34","doi-asserted-by":"crossref","first-page":"16792","DOI":"10.1523\/JNEUROSCI.3109-11.2011","article-title":"An essential role for RAX homeoprotein and NOTCH-HES signaling in Otx2 expression in embryonic retinal photoreceptor cell fate determination","volume":"31","author":"Muranishi","year":"2011","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.exer.2013.03.007_bib35","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1038\/nn1155","article-title":"Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development","volume":"6","author":"Nishida","year":"2003","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.exer.2013.03.007_bib36","doi-asserted-by":"crossref","first-page":"4037","DOI":"10.1242\/dev.028308","article-title":"Dual requirement for Pax6 in retinal progenitor cells","volume":"135","author":"Oron-Karni","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib37","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1242\/dev.01107","article-title":"Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain","volume":"131","author":"Puelles","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib38","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1086\/430721","article-title":"Heterozygous mutations of OTX2 cause severe ocular malformations","volume":"76","author":"Ragge","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2013.03.007_bib39","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1399-0004.2010.01450.x","article-title":"OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype","volume":"79","author":"Schilter","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.exer.2013.03.007_bib40","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/358687a0","article-title":"Nested expression domains of four homeobox genes in developing rostral brain","volume":"358","author":"Simeone","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.exer.2013.03.007_bib41","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1002\/j.1460-2075.1993.tb05935.x","article-title":"A\u00a0vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo","volume":"12","author":"Simeone","year":"1993","journal-title":"EMBO J."},{"key":"10.1016\/j.exer.2013.03.007_bib42","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.ydbio.2004.01.044","article-title":"Involvement of Pax6 and Otx2 in the forebrain-specific regulation of the vertebrate homeobox gene ANF\/Hesx1","volume":"269","author":"Spieler","year":"2004","journal-title":"Dev. Biol."},{"key":"10.1016\/j.exer.2013.03.007_bib43","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.cell.2008.05.054","article-title":"Experience-dependent transfer of Otx2 homeoprotein into the visual cortex activates postnatal plasticity","volume":"134","author":"Sugiyama","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.exer.2013.03.007_bib44","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1210\/jc.2008-1219","article-title":"OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary","volume":"94","author":"Tajima","year":"2009","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.exer.2013.03.007_bib45","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1242\/dev.040568","article-title":"COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis","volume":"137","author":"Tang","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.exer.2013.03.007_bib46","doi-asserted-by":"crossref","first-page":"E278","DOI":"10.1002\/humu.20869","article-title":"Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma","volume":"29","author":"Wyatt","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2013.03.007_bib47","doi-asserted-by":"crossref","first-page":"e501","DOI":"10.1111\/j.1755-3768.2011.02345.x","article-title":"Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family","volume":"90","author":"You","year":"2012","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.exer.2013.03.007_bib48","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.gde.2005.04.011","article-title":"Genetic control of pituitary development and hypopituitarism","volume":"15","author":"Zhu","year":"2005","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.exer.2013.03.007_bib49","doi-asserted-by":"crossref","first-page":"5155","DOI":"10.1242\/dev.00723","article-title":"Specification of the vertebrate eye by a network of eye field transcription factors","volume":"130","author":"Zuber","year":"2003","journal-title":"Development"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483513000614?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483513000614?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T11:50:49Z","timestamp":1688125849000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483513000614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":49,"alternative-id":["S0014483513000614"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2013.03.007","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}