Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase

PURPOSE: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. METHODS: We inv...

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Detalles Bibliográficos
Autores principales: Solheim, Marie H., Clermont, Allen C., Winnay, Jonathon N., Hallstensen, Erlend, Molven, Anders, Njølstad, Pål R., Rødahl, Eyvind, Kahn, C. Ronald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482242/
https://www.ncbi.nlm.nih.gov/pubmed/28632845
http://dx.doi.org/10.1167/iovs.16-21347

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