Citations for
1HMGA2, OTX2
Hmga2 is necessary for Otx2-dependent exit of embryonic stem cells from the pluripotent ground state.
Navarra A, Musto A, Gargiulo A, Petrosino G, Pierantoni GM, Fusco A, Russo T, Parisi S.
BMC Biol 14(1):24. doi: 10.1186/s12915-016-0246-5. 2016
2OTX2
Donating Otx2 to support neighboring neuron survival.
Kim HT, Prochiantz A, Kim JW.
BMB Rep 49(2):69-70. 2016
3MCOPS5, OTX2
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
Lonero A, Delvecchio M, Primignani P, Caputo R, Bargiacchi S, Penco S, Mauri L, Andreucci E, Faienza MF, Cavallo L.
J Pediatr Endocrinol Metab Pediatr Endocrinol Metab. 2016 Mar 12. pii: /j/jpem.ahead-of-print/jpem-2015-0425/jpem-2015-0425.xml. doi: 10.1515/jpem-2015-042 2016
4OTX2
OTX2 is a therapeutic target for retinoblastoma and may function as a common factor between C-MYC, CRX, and phosphorylated RB pathways.
Li J, Di C, Jing J, Di Q, Nakhla J, Adamson DC.
Int J Oncol 47(5):1703-10. doi: 10.3892/ijo.2015.3179. Epub 2015 Sep 23. 2015
5MYCN, OTX2
Otx2 is a target of N-myc and acts as a suppressor of sensory development in the mammalian cochlea.
Vendrell V, López-Hernández I, Durán Alonso MB, Feijoo-Redondo A, Abello G, Gálvez H, Giráldez F, Lamonerie T, Schimmang T.
Development 142(16):2792-800. doi: 10.1242/dev.122465. Epub 2015 Jul 9. 2015
6OTX2
Deletion of OTX2 in neural ectoderm delays anterior pituitary development.
Mortensen AH, Schade V, Lamonerie T, Camper SA.
Hum Mol Genet 24(4):939-53. doi: 10.1093/hmg/ddu506. Epub 2014 Oct 14. 2015
7LMX1B, OTX2
Otx2 Requires Lmx1b to Control the Development of Mesodiencephalic Dopaminergic Neurons.
Sherf O, Nashelsky Zolotov L, Liser K, Tilleman H, Jovanovic VM, Zega K, Jukic MM, Brodski C.
PLoS One 10(10):e0139697. doi: 10.1371/journal.pone.0139697. eCollection 2015. 2015
8OTX2, SOX6
Sox6 and Otx2 control the specification of substantia nigra and ventral tegmental area dopamine neurons.
Panman L, Papathanou M, Laguna A, Oosterveen T, Volakakis N, Acampora D, Kurtsdotter I, Yoshitake T, Kehr J, Joodmardi E, Muhr J, Simeone A, Ericson J, Perlmann T.
Cell Rep 8(4):1018-25. doi: 10.1016/j.celrep.2014.07.016. Epub 2014 Aug 7. 2014
9MCOPS5, OTX2
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium, Héon E.
J Med Genet 51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. 2014
10DKK1, LHX1, OTX2
Head formation: OTX2 regulates Dkk1 and Lhx1 activity in the anterior mesendoderm.
Ip CK, Fossat N, Jones V, Lamonerie T, Tam PP.
Development 141(20):3859-67. doi: 10.1242/dev.114900. Epub 2014 Sep 17. 2014
11OTX2
OTX2 duplication is implicated in hemifacial microsomia.
Zielinski D, Markus B, Sheikh M, Gymrek M, Chu C, Zaks M, Srinivasan B, Hoffman JD, Aizenbud D, Erlich Y.
PLoS One 9(5):e96788. doi: 10.1371/journal.pone.0096788. eCollection 2014. 2014
12OTX2
Otx2 expression in anterior neuroectoderm and forebrain/midbrain is directed by more than six enhancers.
Kurokawa D, Ohmura T, Sakurai Y, Inoue K, Suda Y, Aizawa S.
Dev Biol 387(2):203-13. doi: 10.1016/j.ydbio.2014.01.011. Epub 2014 Jan 20. 2014
13NRL, OTX2
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.
Roger JE, Hiriyanna A, Gotoh N, Hao H, Cheng DF, Ratnapriya R, Kautzmann MA, Chang B, Swaroop A.
J Clin Invest 124(2):631-43. doi: 10.1172/JCI72722. Epub 2014 Jan 2. 2014
14OTX2
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Mińaúr S, Guillen-Navarro E.
Am J Med Genet A 161A(8):2030-5. doi: 10.1002/ajmg.a.36007. Epub 2013 Jun 21. 2013
15OTX2
Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration.
Housset M, Samuel A, Ettaiche M, Bemelmans A, Béby F, Billon N, Lamonerie T.
J Neurosci 33(24):9890-904. doi: 10.1523/JNEUROSCI.1099-13.2013. Erratum in: J Neurosci. 2014 Apr 16;34(16):5732. 2013
16OTX2
Specific expression pattern of a novel Otx2 splicing variant during neural differentiation.
Liu Z, Chi L, Fang Y, Liu L, Zhang X.
Gene 523(1):33-8. doi: 10.1016/j.gene.2013.03.114. Epub 2013 Apr 5. 2013
17OTX2
The transcription factor Otx2 regulates choroid plexus development and function.
Johansson PA, Irmler M, Acampora D, Beckers J, Simeone A, Götz M.
Development 140(5):1055-66. doi: 10.1242/dev.090860. Epub 2013 Jan 30. 2013
18OTX2
Otx2 is an intrinsic determinant of the embryonic stem cell state and is required for transition to a stable epiblast stem cell condition.
Acampora D, Di Giovannantonio LG, Simeone A.
Development 140(1):43-55. doi: 10.1242/dev.085290. Epub 2012 Nov 15. 2013
19OTX2
Otx2 is an intrinsic determinant of the embryonic stem cell state and is required for transition to a stable epiblast stem cell condition.
Acampora D, Di Giovannantonio LG, Simeone A.
Development 140(1):43-55. doi: 10.1242/dev.085290. Epub 2012 Nov 15. 2013
20AGOTC2, OTX2
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW.
J Med Genet 49(6):373-9. Epub 2012 May 10. 2012
21FGF8, OTX2, SOX2
Otx2 is involved in the regional specification of the developing retinal pigment epithelium by preventing the expression of sox2 and fgf8, factors that induce neural retina differentiation.
Nishihara D, Yajima I, Tabata H, Nakai M, Tsukiji N, Katahira T, Takeda K, Shibahara S, Nakamura H, Yamamoto H.
PLoS One 7(11):e48879. doi: 10.1371/journal.pone.0048879. Epub 2012 Nov 8. 2012
22OTX2
Otx2 binding to perineuronal nets persistently regulates plasticity in the mature visual cortex.
Beurdeley M, Spatazza J, Lee HH, Sugiyama S, Bernard C, Di Nardo AA, Hensch TK, Prochiantz A.
J Neurosci 32(27):9429-37. doi: 10.1523/JNEUROSCI.0394-12.2012. 2012
23GBX2, OTX2
Gbx2 directly restricts Otx2 expression to forebrain and midbrain, competing with class III POU factors.
Inoue F, Kurokawa D, Takahashi M, Aizawa S.
Mol Cell Biol 32(13):2618-27. doi: 10.1128/MCB.00083-12. Epub 2012 May 7. 2012
24MCOP2, MCOPS5, OTX2
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.
Clin Genet 79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x. 2011
25OTX2, RAX
An Essential Role for RAX Homeoprotein and NOTCH-HES Signaling in Otx2 Expression in Embryonic Retinal Photoreceptor Cell Fate Determination.
Muranishi Y, Terada K, Inoue T, Katoh K, Tsujii T, Sanuki R, Kurokawa D, Aizawa S, Tamaki Y, Furukawa T.
J Neurosci 31(46):16792-807. 2011
26OTX2
Identification of a retina-specific Otx2 enhancer element active in immature developing photoreceptors.
Emerson MM, Cepko CL.
Dev Biol 360(1):241-55. doi: 10.1016/j.ydbio.2011.09.012. Epub 2011 Sep 21. 2011
27CRX, NRL, OTX2, RORB
Transcriptional regulation of neural retina leucine zipper (Nrl), a photoreceptor cell fate determinant.
Montana CL, Lawrence KA, Williams NL, Tran NM, Peng GH, Chen S, Corbo JC.
J Biol Chem 286(42):36921-31. doi: 10.1074/jbc.M111.279026. Epub 2011 Aug 24. 2011
28MCOPS5, OTX2
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat-Yablonski G.
Hum Genet 127(6):721-9. Epub 2010 Apr 16.PMID: 20396904 2010
29OTX2
Otx2 controls neuron subtype identity in ventral tegmental area and antagonizes vulnerability to MPTP.
Di Salvio M, Di Giovannantonio LG, Acampora D, Prosperi R, Omodei D, Prakash N, Wurst W, Simeone A.
Nat Neurosci. 13(12):1481-8. 2010
30OTX1, OTX2
Otx2 and Otx1 protect diencephalon and mesencephalon from caudalization into metencephalon during early brain regionalization.
Sakurai Y, Kurokawa D, Kiyonari H, Kajikawa E, Suda Y, Aizawa S.
Dev Biol 347(2):392-403. Epub 2010 Sep 16. 2010
31OTX1, OTX2
Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain.
Larsen KB, Lutterodt MC, Mřllgĺrd K, Mřller M.
J Histochem Cytochem 58(7):669-78. Epub 2010 Mar 30. 2010
32MCOPS5, OTX2
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.
J Clin Endocrinol Metab 94(1):314-9. Epub 2008 Oct 14. 2009
33BEST1, CRX, OTX2, VMD2
BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
Esumi N, Kachi S, Hackler L Jr, Masuda T, Yang Z, Campochiaro PA, Zack DJ.
Hum Mol Genet 18(1):128-41. Epub 2008 Oct 10. 2009
34MEIS2, OTX2, TLE4
Meis2 competes with the Groucho co-repressor Tle4 for binding to Otx2 and specifies tectal fate without induction of a secondary midbrain-hindbrain boundary organizer.
Agoston Z, Schulte D.
Development 136(19):3311-22. 2009
35OTX2, TLE4
Otx2 induction of the gonadotropin-releasing hormone promoter is modulated by direct interactions with Grg co-repressors.
Larder R, Mellon PL.
J Biol Chem 284(25):16966-78. Epub 2009 Apr 28. 2009
36OTX1, OTX2, PAX6
Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.
Larsen KB, Lutterodt M, Rath MF, Mřller M.
Int J Dev Neurosci 27(5):485-92. Epub 2009 May 3. 2009
37ARX, DLX1, DLX2, EMX1, EMX2, GSX2, LHX1, LHX5, LHX2, LHX6, LHX8, NKX2-1, OTX1, OTX2, PAX6
Homeobox genes in vertebrate forebrain development and disease.
Wigle JT, Eisenstat DD.
Clin Genet 73(3):212-26. Epub 2008 Jan 31. Review. 2008
38OTX2, SOX2, RAX
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression.
Danno H, Michiue T, Hitachi K, Yukita A, Ishiura S, Asashima M.
Proc Natl Acad Sci U S A 105(14):5408-13. Epub 2008 Apr 2. 2008
39HESX1, OTX2
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
Diaczok D, Romero C, Zunich J, Marshall I, Radovick S.
J Clin Endocrinol Metab 93(11):4351-9. Epub 2008 Aug 26. 2008
40MCOPS5, OTX2
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.
Hum Mutat 29(11):E278-83. 2008
41OTX2, SIX1, SIX6
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW.
Am J Med Genet A 146A(19):2480-9. 2008
42OTX2
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.
Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T.
J Clin Endocrinol Metab 93(10):3697-702. Epub 2008 Jul 15. 2008
43OTX2
Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder.
Sabunciyan S, Yolken R, Ragan CM, Potash JB, Nimgaonkar VL, Dickerson F, Llenos IC, Weis S.
Am J Med Genet B Neuropsychiatr Genet 144(8):1083-6. 2007
44GBX2, OTX2
Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors.
Heimbucher T, Murko C, Bajoghli B, Aghaallaei N, Huber A, Stebegg R, Eberhard D, Fink M, Simeone A, Czerny T.
Mol Cell Biol 27(1):340-51. Epub 2006 Oct 23. 2007
45PAX6, SOX2, OTX2
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
Hever AM, Williamson KA, van Heyningen V.
Clin Genet 69(6):459-70. 2006
46OTX1, OTX2
OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas.
de Haas T, Oussoren E, Grajkowska W, Perek-Polnik M, Popovic M, Zadravec-Zaletel L, Perera M, Corte G, Wirths O, van Sluis P, Pietsch T, Troost D, Baas F, Versteeg R, Kool M.
J Neuropathol Exp Neurol 65(2):176-86. 2006
47OTX2
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.
Chatelain G, Fossat N, Brun G, Lamonerie T.
J Mol Med 84(7):604-15. Epub 2006 Apr 11. 2006
48OTX2
Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid.
Di C, Liao S, Adamson DC, Parrett TJ, Broderick DK, Shi Q, Lengauer C, Cummins JM, Velculescu VE, Fults DW, McLendon RE, Bigner DD, Yan H.
Cancer Res 65(3):919-24. 2005
49MCOP2, MCOPS5, OTX2
Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.
Am J Hum Genet 76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. 2005
50OTX2
Functional analysis of transcriptional repressor Otx3/Dmbx1.
Kimura K, Miki T, Shibasaki T, Zhang Y, Ogawa M, Saisho H, Okuno M, Iwanaga T, Seino S.
FEBS Lett. 579(13):2926-32. 2005
51OTX2
Genomic amplification of orthodenticle homologue 2 in medulloblastomas.
Boon K, Eberhart CG, Riggins GJ.
Cancer Res. 65(3):703-7. 2005
52OTX2
Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain.
Puelles E, Annino A, Tuorto F, Usiello A, Acampora D, Czerny T, Brodski C, Ang SL, Wurst W, Simeone A.
Development. 131(9):2037-48. 2004
53OTX2
OTX2 activates the molecular network underlying retina pigment epithelium differentiation.
Martínez-Morales JR, Dolez V, Rodrigo I, Zaccarini R, Leconte L, Bovolenta P, Saule S.
J Biol Chem. 278(24):21721-31. 2003
54OTX2
OTX2 directly interacts with LIM1 and HNF-3beta.
Nakano T, Murata T, Matsuo I, Aizawa S.
Biochem Biophys Res Commun 267(1):64-70. 2000
55OTX1, OTX2
Genetic and molecular roles of Otx homeodomain proteins in head development.
Acampora D, Gulisano M, Simeone A.
Gene 246(1-2):23-35. Review. 2000
56OTX2, OTX1
Otx genes and the genetic control of brain morphogenesis.
Acampora D, et al.
Mol Cell Neurosci 13(1):1-8. Review. 1999
57OTX2
The caudal limit of Otx2 expression positions the isthmic organizer.
Broccoli V, Boncinelli E, Wurst W.
Nature. 401(6749):164-8. 1999
58OTX1, OTX2
Otx1 and Otx2 in the development and evolution of the mammalian brain.
Simeone A.
EMBO J 17 : 6790-6798. 1998
59EMX1, EMX2, OTX1, OTX2
Chromosome locations of human EMX and OTX genes.
Kastury K, et al.
Genomics 22 : 41-45. 1994