Results 1 to 10 of about 15,997 (234)
Asian Journal of Pharmaceutical Sciences, 2022 CRISPR/Cas, an adaptive immune system in bacteria, has been adopted as an efficient and precise tool for site-specific gene editing with potential therapeutic opportunities.
Aayushi Lohia +6 more
doaj +3 more sources
Pattern Dystrophy of the Macula in a Case of Steinert Disease [PDF]
Case Reports in Ophthalmology, 2013 Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves +4 more
doaj +3 more sources
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico [PDF]
BMC OphthalmologyBackground Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz +14 more
doaj +2 more sources
Review Article. Role of Electrophysiological Methods in Diagnosis of Hereditary Retinal Dystrophies [PDF]
International Journal Bioautomation, 2021 The aim of the study is to present the different electrophysiological methods (EF) for study the retinal function and to highlight their importance in the diagnosis of hereditary retinal dystrophies (HRDs).
Elena Mermeklieva
doaj +1 more source
Current Issues in Molecular Biology, 2022 RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle.
Mirjana Bjeloš +4 more
doaj +1 more source
Classifications of peripheral retinal dystrophies
Офтальмохирургия, 2023 Purpuse. To analyze the existing classifications of peripheral retinal dystrophies. Material and methods. While writing a literature review, a search was made for data from domestic and foreign literature, mostly in the last 20 years.
O.M. Stanishevskaya +4 more
doaj +1 more source
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
core +13 more sources
Paramacular Choriocapillaris Atrophy
Biomedicines, 2023 In this paper, a review of a rare case of paramacular choriocapillaris atrophy with a foveal-sparing phenotype is carried out. The 73-year-old patient stated that they had impaired vision and photophobia in both eyes during a regular ophthalmological ...
Ivona Bućan, Kajo Bućan
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Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. [PDF]
PLoS ONE, 2017 Peripherin (peripherin/rds) is a membrane-associated protein that plays a critical role in the morphogenesis of rod and cone photoreceptor outer segments.
Ayse Sahaboglu +5 more
doaj +1 more source
Negative regulation of the novel norpA(P24) suppressor, diehard4, in the endo-lysosomal trafficking underlies photoreceptor cell degeneration. [PDF]
PLoS Genetics, 2013 Rhodopsin has been used as a prototype system to investigate G protein-coupled receptor (GPCR) internalization and endocytic sorting mechanisms. Failure of rhodopsin recycling upon light activation results in various degenerative retinal diseases ...
Jongwoo Lee +2 more
doaj +1 more source