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- W4310588827 abstract "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. Progressive sight loss can arise from cataracts, glaucoma, and aniridia-related keratopathy, which can be managed conservatively or through surgical intervention. The vast majority of patients harbor heterozygous mutations involving the PAX6 gene, which is considered the master transcription factor of early eye development. Over the past decades, several disease models have been investigated to gain a better understanding of the molecular pathophysiology, including several mouse and zebrafish strains and, more recently, human-induced pluripotent stem cells (hiPSCs) derived from aniridia patients. The latter provides a more faithful cellular system to study early human eye development. This review outlines the main aniridia-related animal and cellular models used to study aniridia and highlights the key discoveries that are bringing us closer to a therapy for patients." @default.
- W4310588827 created "2022-12-12" @default.
- W4310588827 creator A5011809027 @default.
- W4310588827 creator A5034494721 @default.
- W4310588827 creator A5056089886 @default.
- W4310588827 creator A5087017472 @default.
- W4310588827 date "2022-11-30" @default.
- W4310588827 modified "2023-10-14" @default.
- W4310588827 title "PAX6 disease models for aniridia" @default.
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