Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.

doi:10.1186/s40246-019-0248-9

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Article

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.

Human genomics - 3 Dec 2019

Thompson Brian, Katsanis Nicholas, Apostolopoulos Nicholas, Thompson David C, Nebert Daniel W, Vasiliou Vasilis

Abstract excerpt

Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is essential for normal optic vesicle and anterior segment formation. Perturbation in RA-signaling can result in severe ocular developmental diseases-including microphthalmia, anophthalmia, and coloboma....

Topics

Animals
Eye
Gene Expression Regulation
Humans
Phenotype
Signal Transduction
Tretinoin

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Identifiers

PMID: 31796115
DOI: 10.1186/s40246-019-0248-9
PMCID: PMC6892198

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