Results 101 to 110 of about 5,172,195 (247)

Self‐Propelled HPB@Lip@AB Nanomotors Ameliorate Dry Eye Disease

open access: yesAdvanced Science, EarlyView.
A self‐propelled HPB@Lip@AB nanomotor system is developed for dry eye disease (DED) therapy, facilitating rapid penetration across ocular surface barriers while integrating hydrogen therapy with multi‐enzyme‐like antioxidant activity. The nanoplatform restores mitochondrial function, suppresses oxidative stress, inflammation, and apoptosis, and ...
Jing Li   +9 more
wiley   +1 more source

Viral vector-mediated RNA interference in the retina [PDF]

open access: yes, 2010
RNA interference (RNAi) is a highly conserved post-transcriptional gene silencing process triggered by double-stranded RNA (dsRNA) in eukaryotic cells.
Georgiadis, A.
core  

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

open access: yesAdvanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin   +18 more
wiley   +1 more source

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

open access: yesAmerican Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +1 more source

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

open access: yes, 2019
Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid.
Ong, Singh, Patel
core   +1 more source

Upadacitinib Restrains the Pathogenic Fitness of CD4+ T Cells and Aberrant B Cell Programming in Optic Neuritis

open access: yesAdvanced Science, EarlyView.
Single‐cell profiling and functional perturbation reveal coordinated JAK1‐pSTAT3 downstream programs in optic neuritis, including MCL1‐dependent fitness of pathogenic CD4+ Tem cells and glycolysis‐linked, cholesterol‐sensitive B‐cell responses associated with RORA. Upadacitinib disrupts this reciprocal T‐B‐cell circuit and alleviates neuroinflammation,
Gengchen Jiang   +12 more
wiley   +1 more source

Statistical modelling of neuron degeneration [PDF]

open access: yes, 2013
SUMMARY: Parkinson’s disease, Huntington’s disease, Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease are all examples of neurodegenerative disorders that result from the premature death of nerve cells or neurons.
Henderson, Robert   +3 more
core   +1 more source

Case Report: Expanding the LRP5-phenotypic spectrum of the novel c.4462A > G (p.Ser1488Gly) variant with isolated retinal involvement

open access: yesFrontiers in Pediatrics
BackgroundLRP5-related retinal disease is classically associated with familial exudative vitreoretinopathy (FEVR), whereas biallelic inactivating variants cause osteoporosis-pseudoglioma syndrome. We report a severe congenital FEVR-like retinal dysplasia
Mirjana Bjeloš   +12 more
doaj   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

open access: yesAdvanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen   +11 more
wiley   +1 more source

Epigenetic regulation of gene expression in rare inherited retinal disorders

open access: yesFrontiers in Genetics
The retina is a highly specialized neural tissue characterized by extreme cellular differentiation, high metabolic demand, and lifelong exposure to environmental stressors.
Feliciana Menna   +5 more
doaj   +1 more source

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