| OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. | OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. | 05/24/2023 |
| Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas: "it's a numbers game"-implications for WNT medulloblastoma dose-reduction clinical trials. | Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas: "it's a numbers game"-implications for WNT medulloblastoma dose-reduction clinical trials.
Gottardo NG., Free PMC Article | 03/7/2023 |
| The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. | The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
Cohen-Gulkar M, David A, Messika-Gold N, Eshel M, Ovadia S, Zuk-Bar N, Idelson M, Cohen-Tayar Y, Reubinoff B, Ziv T, Shamay M, Elkon R, Ashery-Padan R., Free PMC Article | 01/21/2023 |
| Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis. | Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.
Rafati M, Mohamadhashem F, Jalilian K, Hoseininasab F, Fakhri L, Hoseini A, Amiri H, Barati Z, Darzi Ramandi S, Mostofinezhad N, Mahmoudi AH, Ghaffari SR. | 05/14/2022 |
| An OTX2 Gene Mutation Causing a More Severe Retinal Phenotype in a Female RPGR Mutation Carrier. | An OTX2 Gene Mutation Causing a More Severe Retinal Phenotype in a Female RPGR Mutation Carrier.
Bhat L, De Salvo G, Akyol E, Self JE, Meduri A. | 04/30/2022 |
| OTX2 regulates CFTR expression during endoderm differentiation and occupies 3' cis-regulatory elements. | OTX2 regulates CFTR expression during endoderm differentiation and occupies 3' cis-regulatory elements.
Kerschner JL, Paranjapye A, NandyMazumdar M, Yin S, Leir SH, Harris A. | 03/5/2022 |
| Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease. | Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease.
Bando H, Gergics P, Bohnsack BL, Toolan KP, Richter CE, Shavit JA, Camper SA., Free PMC Article | 08/14/2021 |
| Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. | Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.
Matsumoto R, Suga H, Aoi T, Bando H, Fukuoka H, Iguchi G, Narumi S, Hasegawa T, Muguruma K, Ogawa W, Takahashi Y., Free PMC Article | 09/19/2020 |
| Authors found that the function of DMBX1 was dependent on p21 (CDKN1A), a key regulator of G1/S cell cycle progression. Co-IP assay revealed that DMBX1 directly bound to another homeobox transcription factor, OTX2. ChIP and luciferase reporter assay confirmed that OTX2 directly interacted with the promoter region of p21 to enhance its transcription, and DMBX1 repressed OTX2-mediated transcription of p21. | DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.
Luo J, Liu K, Yao Y, Sun Q, Zheng X, Zhu B, Zhang Q, Xu L, Shen Y, Ren B. | 03/28/2020 |
| The OTX2 gene was expressed in 62% of 60 Brazilian medulloblastoma patients. Expression varied with age (higher in younger age groups), location (predominantly vermis), and histological type (classic and anaplastic). A statistical correlation between OTX2 gene expression and the development of leptomeningeal metastases was observed. | OTX1 and OTX2 Genes in Medulloblastoma.
Figueira Muoio VM, Uno M, Oba-Shinjo S, da Silva R, Araújo Pereira BJ, Clara C, Matushita H, Marie SNK. | 01/18/2020 |
| study provides mechanistic insight into the networks controlled by OTX2 in Medulloblastoma (MB) stem/progenitor cells and reveals novel roles for axon guidance genes and their downstream effectors as putative tumor suppressors in MB. | Characterization of a novel OTX2-driven stem cell program in Group 3 and Group 4 medulloblastoma.
Stromecki M, Tatari N, Morrison LC, Kaur R, Zagozewski J, Palidwor G, Ramaswamy V, Skowron P, Wölfl M, Milde T, Del Bigio MR, Taylor MD, Werbowetski-Ogilvie TE., Free PMC Article | 07/27/2019 |
| Maltreatment history and DNA methylation in OTX2 significantly predicted depression in children. | Methylation in OTX2 and related genes, maltreatment, and depression in children.
Kaufman J, Wymbs NF, Montalvo-Ortiz JL, Orr C, Albaugh MD, Althoff R, O'Loughlin K, Holbrook H, Garavan H, Kearney C, Yang BZ, Zhao H, Peña C, Nestler EJ, Lee RS, Mostofsky S, Gelernter J, Hudziak J., Free PMC Article | 03/16/2019 |
| We observed that the beneficial effect of OTX2 is non-cell autonomous, and it is at least partly mediated by unidentified trophic factors. | Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.
Kole C, Klipfel L, Yang Y, Ferracane V, Blond F, Reichman S, Millet-Puel G, Clérin E, Aït-Ali N, Pagan D, Camara H, Delyfer MN, Nandrot EF, Sahel JA, Goureau O, Léveillard T., Free PMC Article | 01/19/2019 |
| have uncovered a mutual antagonism between NANOG and OTX2 underlying cell fate decisions during neural patterning, critical for the regulation of early neural development in humans | Antagonism between the transcription factors NANOG and OTX2 specifies rostral or caudal cell fate during neural patterning transition.
Su Z, Zhang Y, Liao B, Zhong X, Chen X, Wang H, Guo Y, Shan Y, Wang L, Pan G., Free PMC Article | 01/19/2019 |
| It identified downstream targets of Otx2 suggest novel roles of Otx2 in homeostasis of PV cells, and, moreover, in regulation of chromatin state, which is important for neuronal plasticity. | Experience-dependent transcriptional regulation in juvenile brain development.
Sakai A, Sugiyama S. | 01/12/2019 |
| This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy. | Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.
Abdalla-Elsayed ME, Schatz P, Neuhaus C, Khan AO., Free PMC Article | 04/14/2018 |
| OTX2 acts as a pioneer factor and, in cooperation with NEUROD1, controls the group 3 medulloblastoma active enhancer landscape. | OTX2 Activity at Distal Regulatory Elements Shapes the Chromatin Landscape of Group 3 Medulloblastoma.
Boulay G, Awad ME, Riggi N, Archer TC, Iyer S, Boonseng WE, Rossetti NE, Naigles B, Rengarajan S, Volorio A, Kim JC, Mesirov JP, Tamayo P, Pomeroy SL, Aryee MJ, Rivera MN., Free PMC Article | 12/23/2017 |
| Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability. | Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
Somashekar PH, Shukla A, Girisha KM. | 12/2/2017 |
| We report a rare case of inherited 14q22.3 deletion in a very large family presenting with variable features of eye abnormalities (microphthalmia, anophthalmia and peripapillary pigmentation), pituitary anomalies, and learning difficulties. | 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
Jones GE, Robertson L, Warman P, Craft EV, Cresswell L, Vasudevan PC. | 11/18/2017 |
| Our data refine the clinical spectrum associated with OTX2 mutations and suggests that OTX2 haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis. | Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
Latypova X, Bordereau S, Bleriot A, Pichon O, Poulain D, Briand A, Le Caignec C, Isidor B. | 10/21/2017 |
| One subgroup of atypical teratoid rhabdoid tumors was characterized by high expression of OTX2. | OTX2 Defines a Subgroup of Atypical Teratoid Rhabdoid Tumors With Close Relationship to Choroid Plexus Tumors.
Japp AS, Klein-Hitpass L, Denkhaus D, Pietsch T. | 06/24/2017 |
| TNF-alpha, secreted from activated Monocytes, mediates the downregulation of OTX2 and essential retinal pigment epithelium genes. | Activated monocytes resist elimination by retinal pigment epithelium and downregulate their OTX2 expression via TNF-α.
Mathis T, Housset M, Eandi C, Beguier F, Touhami S, Reichman S, Augustin S, Gondouin P, Sahel JA, Kodjikian L, Goureau O, Guillonneau X, Sennlaub F., Free PMC Article | 06/10/2017 |
| OTX1 and OTX2 genes might have a role in the pathogenesis of different types of sinonasal neoplasms. | OTX1 and OTX2 as possible molecular markers of sinonasal carcinomas and olfactory neuroblastomas.
Pirrone C, Chiaravalli AM, Marando A, Conti A, Rainero A, Pistochini A, Lo Curto F, Pasquali F, Castelnuovo P, Capella C, Porta G., Free PMC Article | 05/20/2017 |
| OTX2 gene frameshift mutation is associated with microphthalmia, ectopic pituitary and growth hormone deficiency. | 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. | 05/13/2017 |
| OTX2 mutations can cause ACTH deficiency in the neonatal period. Study also shows that OTX2 mutations are associated with agenesis of the Left Internal Carotid Artery. | A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y. | 04/8/2017 |