Results 41 to 50 of about 370,744 (189)
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen +17 more
wiley +1 more source
Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod–Cone Versus Cone Dystrophies
Background: Inherited retinal dystrophies are a heterogeneous group of progressive disorders impacting photoreceptor function, often limiting the usefulness of standard electroretinography in advanced cases.
Aykut Demirkol +6 more
doaj +1 more source
The Evolution of Fabrication Methods in Human Retina Regeneration
Optic nerve and retinal diseases such as age-related macular degeneration and inherited retinal dystrophies (IRDs) often cause permanent sight loss. Currently, a limited number of retinal diseases can be treated.
Beatrice Belgio +3 more
doaj +1 more source
Correction: Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal ...
PLOS ONE (2189197)
core +1 more source
Early Retinal UCHL1 Dysregulation Coupled With Synaptic Loss Reflects Alzheimer's Disease Severity
This study identifies synapse‐enriched deubiquitinase UCHL1 as an early Aβ‐responsive regulator of retinal synaptopathy in Alzheimer's disease. Retinal UCHL1 loss accompanies excitatory synapse degeneration, p75NTR activation, and neuroinflammation, and predicts Braak stage and cognitive decline. Aβ42 fibrils trigger synaptic and UCHL1 depletion before
Altan Rentsendorj +25 more
wiley +1 more source
Choroidal Thickness in Different Types of Inherited Retinal Dystrophies
Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi +9 more
doaj +1 more source
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li +23 more
wiley +1 more source
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
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
Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist.
Christine L. Xu +15 more
doaj +1 more source
Ciliary Membrane Lipid Homeostasis in Health and Disease
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang +3 more
wiley +1 more source

