Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Graph Chatbot
Chat with Graph Search
Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.
DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.
Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages. Retinal degeneration in Rpe65(-/-) ...
CNS regeneration is limited by lesion-induced neuronal apoptosis and an environment inhibiting axonal elongation. Inhibition of ROCK has been previously shown to promote regeneration in retinal ganglion cells (RGC) whereas Cdk5 inhibition mainly promoted s ...
PURPOSE. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. ...
NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a transcription factor of the nuclear hormone receptor superfamily whose expression is uniquely restricted to photoreceptors. There, its physiological activity is essential for proper rod ...
We demonstrate in-vivo functional imaging of the human retina with Fourier domain optical coherence tomography employing frequency encoding of an excitation pattern. The principle is based on projecting a modulated rectangular pattern across the foveal reg ...
Spie-Int Soc Optical Engineering, Po Box 10, Bellingham, Wa 98227-0010 Usa2008
Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous f ...
Background: In age related macular degeneration and inherited dystrophies, preservation of retinal ganglion cells has been demonstrated. This finding has led to the development of various models of subretinal or epiretinal implant in order to restore visio ...
We describe a set of simulations to evolve omnidirectional active vision, an artificial retina scanning over images taken via an omnidirectional camera, being applied to a car driving task. While the retina can immediately access features in any direction, ...
We present a new flexible microfabricated polyimide-based platinum array of 3D “tissue coupled electrodes” (TCEs) applied for local stimulation of the chick retinal photoreceptor layer and simultaneous patch clamp recording from a single retinal ganglion c ...
We present a new flexible micro-fabricated polyimide-based platinum (Pt) array of four planar electrodes system for local stimulation of the rat retinal photoreceptor layer and simultaneous extracellular recording (ECR) from large population of retinal gan ...