IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

PURPOSE: To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss (also known as Harboyan syndrome). Furthermore, we developed a cellular model to determine if disease-associated variants induce aberrant SLC4A1...

Descripción completa

Detalles Bibliográficos
Autores principales: Brejchova, Kristyna, Dudakova, Lubica, Skalicka, Pavlina, Dobrovolny, Robert, Masek, Petr, Putzova, Martina, Moosajee, Mariya, Tuft, Stephen J., Davidson, Alice E., Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6645617/
https://www.ncbi.nlm.nih.gov/pubmed/31323090
http://dx.doi.org/10.1167/iovs.19-26930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6645617/
https://www.ncbi.nlm.nih.gov/pubmed/31323090
http://dx.doi.org/10.1167/iovs.19-26930

Ejemplares similares