Retinal Development and Disorders

The paper identifies loss of neurogenic gene expression and motif accessibility in mature Muller glia that limits their regenerative capacity.

This study shows that STAT pathway activation limits Ascl1-mediated chromatin remodeling in Muller glia, reducing their ability to regenerate neurons in the adult mouse retina.

The paper identifies genes regulated by NRL and CRX that control rod photoreceptor presynapse morphology and validates their function through knockdown and CRISPR/Cas9 approaches.

This study reprograms mature mouse Muller glia into functional retinal ganglion cells using Math5 and Brn3 TFs, demonstrating efficient in vivo regeneration and therapeutic potential for glaucoma.

Comparing retinal organoid transcriptomes against human fetal and adult retina places each culture on a developmental scale; replacing all-trans retinoic acid with 9-cis retinal sped rod differentiation.

The paper shows that mutant cells with cell cycle defects either die or differentiate in wild-type environments, while hyperproliferative cells form tumor-like structures and resist differentiation.

This study shows that transducing gluconeogenic enzymes into retinal cells delays cone photoreceptor loss and visual decline in retinitis pigmentosa models, regardless of the genetic cause.

The paper identifies 20 novel deleterious SNPs in the IDH3A gene associated with Retinitis Pigmentosa using bioinformatics tools.

This study uses CRISPR/Cas9 to disrupt OTX2 in retinal progenitors, revealing its role in suppressing alternative cell fates and maintaining proliferative potential.

This study shows that melanopsin and GNAQ signaling in fetal mouse eyes is necessary and sufficient for normal vascular development.

This study identifies nonlinearities in ON bipolar cell responses to light flashes and develops a model to capture these features.

The paper identifies a novel genetic program and circuit involving Tbx20-expressing retinal ganglion cells that control pupil dynamics through specific neural pathways.

This study shows that FGF signaling is essential for ciliary margin development in the retina, with its disruption causing aniridia by altering the boundary between the central retina and the ciliary margin.

This study uses single-cell RNA-seq to analyze human fetal retinal development, revealing transcriptional programs and developmental trajectories of retinal cell types.

This study shows that mutations in the splicing factor Prp31 in Drosophila cause light-dependent retinal degeneration by increasing rhodopsin 1 accumulation, which can be mitigated by reducing rhodopsin levels.

The paper uses single-cell RNA sequencing to analyze retinal development stages and identifies NFI factors as regulators of late progenitor cell specification and mitotic exit.

This study investigates the physical and functional relationship between retinoschisin (RS1) and norrin (NDP) using in vitro and in silico methods, finding no direct interaction but suggesting potential indirect functional links.

The paper reports a recurrent AIPL1 truncating variant in a Sudanese family with Leber Congenital Amaurosis, supporting its pathogenicity and regional significance.

This study identifies Lhx2 as a key regulator of chromatin accessibility and transcription factor binding in retinal progenitor cells, showing its role in stage-specific gene regulation.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.

This study creates a retina-specific Nmnat1 knockout mouse model and shows it leads to severe early retinal dystrophy and loss of photoreceptors.

The paper identifies two novel protein-truncating variants in the CRB1 gene in two families with hereditary retinal disease using clinically guided direct Sanger sequencing.

This study uses a Drosophila model to investigate the effects of Prp31 mutations, showing light-induced retinal degeneration linked to oxidative stress and splicing defects.

The paper presents a mechanistic model explaining the spatial interaction between blue cones and blue cone bipolar cells in macaque retina, showing it matches observed density recovery profiles.