Contribution of OTX2 Mutations in the Etiology of Congenital Hypopituitarism: Novel Changes and Functional Consequences

被引：0
|
作者：
Alatzoglou, Kyriaki S. [1 ]
McCabe, Mark J. [1 ]
Gregory, Louise C. [1 ]
Spadoni, Emanuela [1 ]
Martinez-Barbera, Juan Pedro [1 ]
Maghnie, Mohamad [2 ]
Dattani, Mehul Tulsidas [1 ]
机构：
[1] UCL Inst Child Hlth, London, England
[2] Univ Genoa, Genoa, Italy
来源：
ENDOCRINE REVIEWS | 2014年 / 35卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
SUN-0693
引用
收藏
页数：3
相关论文
共 50 条
  • [31] A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency
    Diaczok, Daniel
    Romero, Christopher
    Zunich, Janice
    Marshall, Ian
    Radovick, Sally
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (11): : 4351 - 4359
  • [32] Specific expression pattern of a novel Otx2 splicing variant during neural differentiation
    Liu, Zhongliang
    Chi, Liankai
    Fang, Yujiang
    Liu, Ling
    Zhang, Xiaoqing
    GENE, 2013, 523 (01) : 33 - 38
  • [33] Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
    Henderson, R. Alex
    Williamson, Kathy
    Cumming, Sally
    Clarke, Michael P.
    Lynch, Sally Ann
    Hanson, Isabel M.
    FitzPatrick, David R.
    Sisodiya, Sanjay
    van Heyningen, Veronica
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (08) : 898 - 901
  • [34] Functional and Evolutionary Diversification of Otx2 and Crx in Vertebrate Retinal Photoreceptor and Bipolar Cell Development
    Yamamoto, Haruka
    Kon, Tetsuo
    Omori, Yoshihiro
    Furukawa, Takahisa
    CELL REPORTS, 2020, 30 (03): : 658 - +
  • [35] Heterozygous mutations of OTX2 cause severe ocular malformations (vol 76, pg 1008, 2005)
    Ragge
    AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (02) : 334 - 334
  • [36] Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
    R Alex Henderson
    Kathy Williamson
    Sally Cumming
    Michael P Clarke
    Sally Ann Lynch
    Isabel M Hanson
    David R FitzPatrick
    Sanjay Sisodiya
    Veronica van Heyningen
    European Journal of Human Genetics, 2007, 15 : 898 - 901
  • [37] Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells
    Acampora, Dario
    Di Giovannantonio, Luca Giovanni
    Garofalo, Arcomaria
    Nigro, Vincenzo
    Omodei, Daniela
    Lombardi, Alessia
    Zhang, Jingchao
    Chambers, Ian
    Simeone, Antonio
    STEM CELL REPORTS, 2017, 9 (05): : 1642 - 1659
  • [38] Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration
    Langouet, Maeva
    Jolicoeur, Christine
    Javed, Awais
    Mattar, Pierre
    Gearhart, Micah D.
    Daiger, Stephen P.
    Bertelsen, Mette
    Tranebjaerg, Lisbeth
    Rendtorff, Nanna D.
    Gronskov, Karen
    Jespersgaard, Catherine
    Chen, Rui
    Sun, Zixi
    Li, Hui
    Alirezaie, Najmeh
    Majewski, Jacek
    Bardwell, Vivian J.
    Sui, Ruifang
    Koenekoop, Robert K.
    Cayouette, Michel
    SCIENCE ADVANCES, 2022, 8 (36)
  • [39] A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
    Lonero, Antonella
    Delvecchio, Maurizio
    Primignani, Paola
    Caputo, Roberto
    Bargiacchi, Sara
    Penco, Silvana
    Mauri, Lucia
    Andreucci, Elena
    Faienza, Maria Felicia
    Cavallo, Luciano
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2016, 29 (05): : 603 - 605
  • [40] 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, Maryam
    Mohamadhashem, Faezeh
    Jalilian, Koosha
    Hoseininasab, Fatemeh
    Fakhri, Laya
    Hoseini, Azadeh
    Amiri, Hosna
    Barati, Zeinab
    Ramandi, Somayeh Darzi
    Mostofinezhad, Nioosha
    Mahmoudi, Amir Hosein
    Ghaffari, Saeed Reza
    OPHTHALMIC GENETICS, 2022, 43 (02) : 262 - 267
12345