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Hum Genet. 2018 Aug 2. doi: 10.1007/s00439-018-1918-8. [Epub ahead of print]

The hedgehog pathway and ocular developmental anomalies.

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Institute for Medical and Biomedical Education, St. George´s University of London, Cranmer Terrace, London, SW17 0RE, UK.
Institut des Neurosciences Paris-Saclay (Neuro-PSI), UMR 9197, CNRS, Université Paris-Sud, 1 Avenue de la Terrasse, 91198, Gif-sur-Yvette Cedex, France.
Aix-Marseille Univ, Marseille Medical Genetics (MMG), INSERM, Faculté de Médecine, 27 boulevard Jean Moulin, 13005, Marseille, France.


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.


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