The hedgehog pathway and ocular developmental anomalies - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Human Genetics Année : 2019

The hedgehog pathway and ocular developmental anomalies

Résumé

Mutations in effectors of the Hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies (ODA). 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 30 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.
Fichier principal
Vignette du fichier
10.1007_s00439-018-1918-8.pdf (1.55 Mo) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte
Loading...

Dates et versions

hal-01853948 , version 1 (06-08-2018)

Licence

Paternité

Identifiants

Citer

Florencia Cavodeassi, Sophie Creuzet, Heather Etchevers. The hedgehog pathway and ocular developmental anomalies. Human Genetics, 2019, 138 (8-9), pp.917-936. ⟨10.1007/s00439-018-1918-8⟩. ⟨hal-01853948⟩
304 Consultations
106 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More