Results 51 to 60 of about 2,460,078 (269)
Neural and Müller glial adaptation of the retina to photoreceptor degeneration
The majority of inherited retinal degenerative diseases and dry age-related macular degeneration are characterized by decay of the outer retina and photoreceptors, which leads to progressive loss of vision.
Henri O Leinonen +2 more
doaj +1 more source
Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype [PDF]
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core +1 more source
Adaptive optics imaging of inherited retinal diseases. [PDF]
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Michel Michaelides +11 more
core +1 more source
Electrodiagnosis in Inherited Retinal Disease
AbstractThe presentation will use a case based approach to describe the value of electrophysiological assessment in the diagnosis and management of patients with inherited retinal disease.
openaire +1 more source
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise +5 more
wiley +1 more source
Animals Models of Inherited Retinal Disease
Inherited retinal diseases (IRDs) are an important cause of blindness worldwide. Over 270 genes have been associated with IRD. Genetic testing can determine the cause of the clinical disease in the majority of patients. However, at least 25-50% of patients with clinical diagnosis of IRD remain unsolved even after whole genome sequencing.
openaire +4 more sources
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
Background 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 +1 more source
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source
Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific [PDF]
Despite different aetiologies, most inherited retinal disorders culminate in photoreceptor loss, which induces concomitant changes in the neural retina, one of the most striking being reactive gliosis by Müller cells.
Graca, AB +6 more
core
MITF maintains genome stability in nonmelanocyte lineages
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir +13 more
wiley +1 more source

