Search results for "PIGMENT"
showing 10 items of 626 documents
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…
2017
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …
Oxidative stress in retinal pigment epithelium cells increases exosome secretion and promotes angiogenesis in endothelial cells.
2015
10 páginas, 5 figuras
Role of retinal pigment epithelium-derived exosomes and autophagy in new blood vessel formation
2018
Autophagy and exosome secretion play important roles in a variety of physiological and disease states, including the development of age‐related macular degeneration. Previous studies have demonstrated that these cellular mechanisms share common pathways of activation. Low oxidative damage in ARPE‐19 cells, alters both autophagy and exosome biogenesis. Moreover, oxidative stress modifies the protein and genetic cargo of exosomes, possibly affecting the fate of surrounding cells. In order to understand the connection between these two mechanisms and their impact on angiogenesis, stressed ARPE‐19 cells were treated with a siRNA‐targeting Atg7, a key protein for the formation of autophagosomes.…
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
2019
The human Usher syndrome (USH) is a retinal ciliopathy, characterized by profound congenital deafness, variable vestibular dysfunction and pre-pubertal onset of retinitis pigmentosa. In the effected sensory cells, USH protein networks are assumed to function in ciliary transport processes. The USH1G protein SANS is a scaffold of the ciliary/periciliary USH protein network of photoreceptor cells. Moreover, SANS is associated with microtubules, the transport routes for protein delivery toward the cilium. To enlighten the role of SANS in ciliary transport processes, we aimed to identify transport related proteins associated with SANS. The intraflagellar transport (IFT) system is a conserved me…
The biology of color
2017
In living color Animals live in a colorful world, but we rarely stop to think about how this color is produced and perceived, or how it evolved. Cuthill et al. review how color is used for social signals between individual animals and how it affects interactions with parasites, predators, and the physical environment. New approaches are elucidating aspects of animal coloration, from the requirements for complex cognition and perception mechanisms to the evolutionary dynamics surrounding its development and diversification. Science , this issue p. eaan0221
Ocular autofluorescence in diabetes mellitus. A review
2016
Diabetes mellitus is a metabolic disease with a considerable impact on healthcare owing to its increased prevalence and high mortality rate. Structural, morphological, and physiological changes in each of the ocular components have been described in detail. Autofluorescence has been described as a good indicator of metabolic activity. The aim of the present review is to provide an overview of ocular endogenous fluorophores in the cornea, the crystalline lens, and the retinal pigment epithelium, the effects of diabetes mellitus and therefore the potential of autofluorescence assessment for screening and monitoring changes in diabetic patients.
Confocal scanning laser ophthalmoscopy versus modified conventional fundus camera for fundus autofluorescence.
2016
Fundus autofluorescence (FAF) is a noninvasive imaging method to detect fundus endogenous fluorophores, mainly lipofuscin located in the retinal pigment epithelium (RPE). The FAF provides information about lipofuscin distribution and RPE health, and consequently an increased accumulation of lipofuscin has been correlated with ageing and development of certain retinal conditions. Areas covered: An exhaustive literature search in MEDLINE (via OVID) and PUBMED for articles related to ocular FAF in retinal diseases and different devices used for acquiring FAF imaging was conducted. Expert commentary: This review aims to show an overview about autofluorescence in the RPE and the main devices use…
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
2019
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs
Raman spectroscopy as a tool for ecology and evolution.
2017
7 pages; International audience; Scientists are always on the lookout for new modalities of information which could reveal new biological features that are useful for deciphering the complexity of biological systems. Here, we introduce Raman spectroscopy as a prime candidate for ecology and evolution. To encourage the integration of this microscopy technique in the field of ecology and evolution, it is crucial to discuss first how Raman spectroscopy fits within the conceptual, technical and pragmatic considerations of ecology and evolution. In this paper, we show that the spectral information holds reliable indicators of intra- and interspecies variations, which can be related to the enviro…
Role of Ocular Angiogenic Factors in the Development of Neovascular Age-Related Macular Degeneration
2020
Abstract Age-related macular degeneration (AMD) is a progressive degenerative eye disease. Neovascular age-related macular degeneration (nAMD) is the advanced form of AMD characterised by abnormal growth of newly formed blood vessels in chorioidea which typically involves fluid accumulation in the retina or retinal haemorrhage, retinal epithelial detachments, hard exudate or subretinal scars. The process of angiogenesis is controlled by ocular angiogenic factors, which have enabled the development of different treatment options aimed at these factors. This review aims to compile the available information about the most commonly identified ocular angiogenic factors, uncovering their role in …