Retinal Development and Disorders

The paper examines F3 expression and localization across species and age in ocular tissues, finding species-dependent and region-specific patterns, with age-related changes in F3 and ECM enzyme dynamics.

This study identifies aberrant splicing caused by the NR2E3 c.932G>A mutation and shows that splice-shifting ASOs can restore full-length protein function.

The paper tests a drug to reduce noise in retinal circuits of mice with retinitis pigmentosa, finding it preserves visual sensitivity while decreasing circuit noise.

The paper investigates the role of protein phosphatases in regulating Müller glia reprogramming into progenitor cells in damaged chick retinas using scRNA-seq.

This study identifies small molecules that enhance ABCA4 misfolding variant trafficking to the plasma membrane using an in vitro platform.

The paper identifies two rod bipolar cell types in zebrafish that are related to mammalian rod bipolar cells, suggesting the primary rod pathway evolved over 400 million years ago.

This study profiles marmoset foveal and peripheral retinal cells across development, revealing conserved cell types and distinct molecular maturation paths.

This study shows that glutamatergic neuronal activity influences retinal angiogenesis and blood-retinal barrier maturation through Norrin/β-catenin signaling in mice.

This study investigates the therapeutic potential of RPE-secreted small extracellular vesicles in rescuing photoreceptors in retinal degeneration, showing gene expression reversal and functional improvement in a rat model.

This study shows Pten and Dscam regulate amacrine cell spacing through endocytic trafficking of cell adhesion and signaling molecules, with altered extracellular vesicles and Wnt signaling in Pten mutants.

This study shows ID transcription factors regulate Muller glia reprogramming into progenitor cells after retinal damage by controlling p21Cip1 levels and neurogenic potential.

This study fine-tunes FAM161A gene therapy in mice to restore retinal function by optimizing promoter activity, dosage, and isoform delivery.

The paper uses scRNA-seq to study NR2E3 mutations in mouse retinas, identifying hybrid photoreceptors and their role in disease.

This study investigates PRCD-deficient mice and finds increased retinal cholesterol and RPE dysfunction resembling AMD.

This study shows that NUDC is essential for rod photoreceptor function, survival, and maintenance, with loss leading to cell death, protein mislocalization, and retinal degeneration.

This study presents the first single-cell spatio-temporal transcriptome of human retinal organoid development using single-cell RNA-Seq and spatial transcriptomics, revealing key developmental events and chromatin accessibility patterns.

IBEX imaging enables simultaneous identification of all cell types in the vertebrate retina across multiple species.

The paper identifies LRFN2 as a protein involved in cone photoreceptor synapse formation and function, showing its interaction with TRPM1 and its role in synaptic transmission.

This paper models retinal rewiring in retinitis pigmentosa using pathoconnectomics and predicts altered signaling patterns in Aii amacrine cells.

This study identifies a specific Muller glia subpopulation that can be reprogrammed into photoreceptor-like cells through transplantation of human amniotic epithelial cells.

The paper examines how different pathogenic variants in the CRX gene affect cis-regulatory elements in photoreceptors, showing overlapping enhancer effects and distinct silencer impacts.

This study investigates the role of calcium signaling in photoreceptor cell death in IRD using mouse models and identifies calpain-2 as a key contributor to degeneration.

The paper uses fMRI to assess cone-driven responses in canine retinal disease models, finding preserved responses in some models and restored function in NPHP5-CRD2 after gene augmentation.

This study investigates how pirfenidone modulates scar formation and inflammation in retinal wound repair, showing reduced collagen and inflammation but no photoreceptor regeneration.

The paper shows that loss of four extracellular matrix proteins in mice causes retinal dysfunction, impaired visual motion processing, loss of specific retinal cells, and synaptic imbalance.

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

This study profiles chimeric RNAs in human retinal organoids during development, identifying both common and novel chimeric RNAs and highlighting the role of CTNNBIP1-CLSTN1 in retinogenesis.

This study investigates the role of Synaptotagmin-9 in the mouse retina, showing its involvement in regulating cone signal transmission through rod cells.

This paper demonstrates using AI to improve reproducibility of a mathematical model of Retinitis Pigmentosa by converting equations from PDF to SBML and simulating them.

Hexafluoro improves visual function and reduces retinal degeneration in zebrafish models of Usher syndrome 1F by protecting photoreceptors from light-induced damage.