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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Ezquerra-Inchausti, Maitane; Anasagasti, Ander; Barandika, Olatz; Garai-Aramburu, Gonzaga; Galdós, Marta; López de Munain Arregui, Adolfo José; Irigoyen, Cristina; Ruiz-Ederra, Javier (Nature Publishing, 2018-09-18)

Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. ...

Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa

Anasagasti, Ander; Ezquerra-Inchausti, Maitane; Barandika, Olatz; Muñoz-Culla, Maider; Caffarel, María M.; Otaegui Bichot, David; López de Munain Arregui, Adolfo José; Ruiz-Ederra, Javier (Association Research Vision Ophthalmology, 2018-05)

PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 ...