Cavodeassi, F; Creuzet, S; Etchevers, HC
(2019)
The hedgehog pathway and ocular developmental anomalies.
Hum Genet, 138 (8-9).
pp. 917-936.
ISSN 1432-1203
https://doi.org/10.1007/s00439-018-1918-8
SGUL Authors: Cavodeassi, Florencia
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Abstract
Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia, not always compatible with postnatal life, to subtle but damaging functional effects on specific eye components. This review will concentrate on the effects and effectors of the major vertebrate hedgehog ligand for eye and brain formation, Sonic hedgehog (SHH), in tissues that constitute the eye directly and also in those tissues that exert indirect influence on eye formation. After a brief overview of human eye development, the many roles of the SHH signaling pathway during both early and later morphogenetic processes in the brain and then eye and periocular primordia will be evoked. Some of the unique molecular biology of this pathway in vertebrates, particularly ciliary signal transduction, will also be broached within this developmental cellular context.
Item Type: | Article | ||||||||
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Additional Information: | © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. | ||||||||
Keywords: | Genetics & Heredity, 0604 Genetics, 1104 Complementary And Alternative Medicine, 1114 Paediatrics And Reproductive Medicine | ||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Institute of Medical & Biomedical Education (IMBE) Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Biomedical Education (INMEBE) |
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Journal or Publication Title: | Hum Genet | ||||||||
ISSN: | 1432-1203 | ||||||||
Language: | eng | ||||||||
Dates: |
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Publisher License: | Creative Commons: Attribution 4.0 | ||||||||
PubMed ID: | 30073412 | ||||||||
Go to PubMed abstract | |||||||||
URI: | https://openaccess.sgul.ac.uk/id/eprint/110061 | ||||||||
Publisher's version: | https://doi.org/10.1007/s00439-018-1918-8 |
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