Retinal Development and Disorders

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.

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.

The paper investigates Capn5 expression in zebrafish retina during development and regeneration, finding increased expression in photoreceptors and Muller glia following degeneration.

This study identifies Pappaa as a regulator of cone synapse structure and function that specifically mediates light offset signaling in zebrafish retinas.

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 highroad as a retinoid-inducible gene that clears mutant Rhodopsin-1 in Drosophila retinal degeneration models.

This study identifies a cell-autonomous factor that reprograms medaka Müller glia cells to exhibit regenerative responses similar to zebrafish Müller glia cells.

The paper shows Notch signaling regulates Atoh7 in medaka to pattern retinal cell types during post-embryonic growth.

The paper shows that Lhx2, with its coactivator Ldb1 and corepressor Rnf12, regulates the balance between neurogenesis and gliogenesis in the retina by controlling cell cycle exit, Notch signaling, and expression of neurogenic factors.

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 shows mouse horizontal cells process cone input locally, with dendritic Ca2+ signals reflecting cone opsin activation and chromatic preference, supporting local feedback shaping cone output.

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.

The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.

This study shows dystroglycan is critical for maintaining inner limiting membrane integrity, which coordinates retinal development and neuronal migration.

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.