Abstract
The recent identification of a mutation in Foxe3 that causes congenital primary aphakia in humans marks an important milestone. Congenital primary aphakia is a rare developmental disease in which the lens does not form. Previously, Foxe3 had been shown to play a crucial role in vertebrate lens formation and this gene is one of the earliest integrators of several signaling pathways that cooperate to form a lens. In this review, we highlight recent advances that have led to a better understanding of the developmental processes and gene regulatory networks involved in lens development and disease.
MeSH terms
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Animals
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Aphakia / congenital
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Aphakia / genetics
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Aphakia / metabolism
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Eye Diseases, Hereditary / genetics*
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Eye Diseases, Hereditary / metabolism
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Forkhead Transcription Factors / biosynthesis
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Forkhead Transcription Factors / genetics
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Forkhead Transcription Factors / physiology*
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Gene Expression Regulation, Developmental
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Humans
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Lens, Crystalline / embryology*
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Lens, Crystalline / metabolism
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Mutation
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Xenopus Proteins / biosynthesis
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Xenopus Proteins / genetics
Substances
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FOXE3 protein, Xenopus
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FOXE3 protein, human
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Forkhead Transcription Factors
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Foxe3 protein, mouse
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Xenopus Proteins