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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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
doaj +6 more sources
Requirement of Pax6 for the integration of guidance cues in cell migration [PDF]
Royal Society Open Science, 2017 The intricate patterns of cell migration that are found throughout development are generated through a vast array of guidance cues. Responding integratively to distinct, often conflicting, migratory signals is probably crucial for cells to reach their ...
Miguel Arocena +2 more
doaj +4 more sources
Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences. [PDF]
PLoS Genetics, 2013 Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
Vydianathan Ravi +11 more
doaj +5 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
doaj +2 more sources
PAX6 Downregulation Triggers HIF-1α-Mediated Ferroptosis in Glioma Cells [PDF]
BiomoleculesBackground: The paired-box gene 6 (PAX6) is an important transcription factor in the central nervous system, mainly regulating the development and differentiation of embryonic eyes and the nervous system.
Qizhi Luo +6 more
doaj +2 more sources
Cellular basis of pineal gland development: Emerging role of microglia as phenotype regulator [PDF]
, 2016 The adult pineal gland is composed of pinealocytes, astrocytes, microglia, and other interstitial cells that have been described in detail. However, factors that contribute to pineal development have not been fully elucidated, nor have pineal cell ...
Ibañez Rodriguez, María Paula +2 more
core +18 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source