Arnold Leigh, Anand Swaroop, Kamil Kruczek, Ehsan Ullah, Brian P Brooks
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引用次数: 0
Abstract
The development of the neural retina requires a complex, spatiotemporally regulated network of gene expression. Here we review the role of the cone rod homeobox (CRX) transcription factor in specification and differentiation of retinal photoreceptors and its function in inherited retinal diseases such as cone-rod dystrophy (CoRD), dominant retinitis pigmentosa (RP), and Leber's congenital amaurosis (LCA). We delineate the findings of animal models and, more recently, human retinal organoids in elucidating molecular mechanisms of CRX activity and the pathogenesis of inherited photoreceptor degenerations. Lastly, we discuss implications of these findings in the development of therapies for inherited retinal diseases.
期刊介绍：
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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