Gene editing in photoreceptor progenitors prevents visual function loss in a mouse model of retinal degeneration
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BIGH3 is a secreted protein, part of the extracellular matrix where it interacts with collagen and integrins on the cell surface. BIGH3 can play opposing roles in cancer, acting as either tumor suppressor or promoter, and its mutations lead to different fo ...
PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...
In crowding, target perception deteriorates when flanking elements are added. Crowding is traditionally characterized by target-flanker interactions which are (1) deleterious, (2) spatially confined within Bouma’s window, and (3) feature specific. Here, we ...
PurposeTo determine a relationship between the retinal vessel saturation alterations and the residual retinal function measured by means of full-field electroretinography (full-field ERG), electrooculogram (EOG) and multifocal electroretinography (mfERG) i ...
Retinal gene therapy could potentially affect the lives of millions of people suffering from blinding disorders. Yet, one of the major hurdles remains the delivery of therapeutic nucleic acids to the retinal target cells. Due to the different barriers that ...
This thesis focuses on the study of H6 homeobox 1 (HMX1) gene, a homeobox-containing transcription factor involved in sensory organ and eye development and responsible for the oculo-auricular syndrome of Schorderet-Munier-Franceschetti. The purpose of my s ...
Sight restoration after retinal degeneration still represents an unmet goal. Since therapeutic strategies increasingly require interdisciplinary competencies, photoreceptor degeneration is attracting several research areas, including: life science, materia ...
In cognition, audition, and somatosensation, performance correlates strongly between different paradigms suggesting the existence of common factors. Surprisingly, this does not hold true for vision. For example, performance in line bisection and visual acu ...
There are major uncertainties in the existing glare prediction models which makes them only partially capable of predicting user responses to visual environments. The models are particularly limited when predicting glare in spaces with large non-uniform gl ...
We present the results of the EUMSSI team's participation in the Multimodal Person Discovery task at the MediaEval challenge 2015. The goal is to identify all people who simultaneously appear and speak in a video corpus, which implicitly involves both audi ...
