Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina
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We report an alternative technique to perform a direct and local measurement of electrical resistivities in a layered retinal tissue. Information on resistivity changes along the depth in a retina is important for modelling retinal stimulation by retinal p ...
Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his moth ...
The comparison between UV transient absorption spectra of wild type bacteriorhodopsin and two tryptophan-mutant proteins gives evidence for the possibility to use tryptophans as ultrafast probes for the photo-induced dipole moment change in retinal protein ...
Mutations in humans are associated with several forms of inherited retinal dystrophies, such as Retinitis Pigmentosa which lead to retinal cell death and irreversible loss of vision. Genes involved in affected patients mainly encode proteins related to vis ...
In animals, pigment cells are essential for coloration, as seen in feathers, fur, skin and eyes. In mammals, neural crest-derived melanocytes constitute the major population of pigment cells that is located mainly in the skin epidermis, as well as in hair ...
The comparison between UV transient absorption spectra of wild type bacteriorhodopsin and two tryptophan-mutant proteins gives evidence for the possibility to use tryptophans as ultrafast probes for the photo-induced dipole moment change in retinal protein ...
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic con ...
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(-/-) ...
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 ...