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PAX6 disease models for aniridia
Indian Journal of Ophthalmology, 2022 Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently.
Dorsa Abdolkarimi +3 more
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Neural Development, 2009 Background The paired homeobox protein Pax6 is essential for proliferation and pluripotency of retinal progenitors. However, temporal changes in Pax6 protein expression associated with the generation of various retinal neurons have not been characterized
Yi-Wen Hsieh, Xian-Jie Yang
exaly +3 more sources
Pax6 as a Therapeutic Target: Convergent Molecular Pathways in the Regulation of Aniridia, Neurogenesis, Neurodegeneration and Oncology [PDF]
CellsPax6 is a multifunctional transcription factor that orchestrates cell cycle progression at distinct stages of early embryonic neurogenesis and serves as a molecular mediator integrating multiple signaling pathways associated with pathological processes ...
Marina Skorkina +4 more
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Clinical and molecular aspects of congenital aniridia – A review of current concepts
Indian Journal of Ophthalmology, 2022 Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal +9 more
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3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes. [PDF]
PLoS ONE, 2012 Pax6 and Pax6(5a) are two isoforms of the evolutionary conserved Pax6 gene often co-expressed in specific stochiometric relationship in the brain and the eye during development.
Yury Kiselev +4 more
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Open Medicine, 2022 Circular RNAs (circRNAs) serve as essential players in diverse human cancers, including retinoblastoma (RB). In this study, the function of circRNA Ring Finger Protein 20 (circRNF20) in RB progression was investigated.
An Dexiang, Yang Jing, Ma Linli
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The expression of Pax6 variants is subject to posttranscriptional regulation in the developing mouse eyelid. [PDF]
PLoS ONE, 2013 Pax6 is a pivotal transcription factor that plays a role during early eye morphogenesis, but its expression and function in eyelid development remain unknown. In this study, the expression patterns of Pax6 mRNA and protein were examined in the developing
Fangyu Shi +6 more
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Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. [PDF]
PLoS ONE, 2013 Pax6 encodes a specific DNA-binding transcription factor that regulates the development of multiple organs, including the eye, brain and pancreas. Previous studies have shown that Pax6 regulates the entire process of ocular lens development.
Qing Xie +11 more
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Frontiers in Cell and Developmental Biology, 2022 Habenulae asymmetries are widespread across vertebrates and analyses in zebrafish, the reference model organism for this process, have provided insight into their molecular nature, their mechanisms of formation and their important roles in the ...
Léo Michel +16 more
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A Case of Autosomal Dominant Bilateral Familial Aniridia
GAIMS Journal of Medical Sciences, 2021 Aniridia is a familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. We report
Kinjal Mehta, Nikhil Rupala, Kavita Shah
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