Topic · Molecular Biology · Biochemistry, Genetics and Molecular Biology
Retinal Development and Disorders
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
354 papers
- NeurosciencebioRxivPreprint
Retinal bipolar cells borrow excitability from amacrine cells to amplify spatial features in dim light
Shubhash Chandra Yadav, Logan C. Ganzen, Lawrence Man…·Richard Krämer
The paper shows that On-cone bipolar cells use NaV channels from coupled amacrine cells to enhance signal transmission in dim light.
2 citations - Developmental BiologybioRxivPreprint
Microphthalmia and disrupted retinal development due to a LacZ knock-in/knock-out allele at the Vsx2 locus
Francesca R. Napoli, Xiaodong Li, Alan A. Hurtado, Edward M. Levine
This study characterizes a LacZ knock-in/knock-out allele at the Vsx2 locus in mice, revealing its role in retinal development and identifying potential incomplete knock-out effects.
DOI 10.1101/2024.06.08.597937 - NeurosciencebioRxivPreprint
A spontaneous mutation in ADIPOR1 causes retinal degeneration in mice
Junzheng Yang, Natasha M. Buchanan, Erika Urbano de Lima…·Dennis S. Rice
A mutation in AdipoR1 causes retinal degeneration in a subset of Cfh-/- mice, suggesting a genetic interaction between Cfh and AdipoR1.
DOI 10.1101/2024.06.06.597783 - Developmental BiologybioRxivPreprint
Enhanced plasmid-based transcriptional activation in developing mouse photoreceptors
Brendon M. Patierno, Mark M. Emerson
This study enhances plasmid-based transcriptional activation in developing mouse photoreceptors by using optimized cis-regulatory elements from the Crx gene.
DOI 10.1101/2024.06.06.597220 - Cell BiologybioRxivPreprint
Protective effect of P2Y receptors antagonism on stress-induced retinal degeneration
Yi Bao, Kyle Bond, Pauline Sarraf…·Magali Saint‐Geniez
This study shows that blocking P2Y receptors with suramin prevents stress-induced RPE and photoreceptor degeneration in vitro and in a zebrafish model.
1 citation - BioinformaticsbioRxivPreprint
Adaptive loss of shortwave cone opsins during genomic evolution in cartilaginous fish
Bo Zhang, Yidong Feng, Meiqi Lv…·Baolong Bao
The paper investigates the loss of shortwave cone opsins in cartilaginous fish, linking it to eye adaptation and the presence of tapetum lucidum.
DOI 10.1101/2024.05.27.594570 - Developmental BiologybioRxivPreprint
Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the Oa1-/- mouse model of Ocular albinism
Sonia Guha, Andrew M. Nguyen, Alejandra Young…·Debora B. Farber
This study shows that Oa1 deficiency in mice impairs retinal neurogenesis by reducing CREB phosphorylation, leading to disrupted differentiation and binocular vision.
1 citation - GenomicsbioRxivPreprint
The prevalent NR2E3 c.932G>A mutation induces aberrant splicing that can be rescued using splice-shifting antisense oligonucleotides
Yehezkel Sztainberg, Maya David Teitelbaum, Ilana Buchumenski…·Ariel Feiglin
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.
DOI 10.1101/2024.05.01.592034 - NeurosciencebioRxivPreprint
A metabotropic glutamate receptor agonist enhances visual signal fidelity in a mouse model of retinitis pigmentosa
Xiaoyi Li, Miloslav Sedlacek, Amurta Nath…·Jeffrey S. Diamond
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.
3 citations - NeurosciencebioRxivPreprint
Rescuing Photoreceptors in RPE Dysfunction-Driven Retinal Degeneration: The Role of Small Extracellular Vesicles Secreted from Retinal Pigment Epithelium
Dimitrios Pollalis, Constantin Georgescu, Jonathan D. Wren…·Sun Young Lee
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.
4 citations - Developmental BiologybioRxivPreprint
Iterative Bleaching Extends Multiplexity (IBEX) imaging facilitates simultaneous identification of all cell types in the vertebrate retina
Aanandita A. Kothurkar, Gregory S. Patient, Nicole C. L. Noel…·Ryan B. MacDonald
IBEX imaging enables simultaneous identification of all cell types in the vertebrate retina across multiple species.
- NeurosciencebioRxivPreprint
Impact of Aii Amacrine Cell Rewiring in a Pathoconnectome-Based Computational Model of Early Retinal Degeneration
Ege Iseri, Rebecca L. Pfeiffer, Crystal Sigulinsky…·Gianluca Lazzi
This paper models retinal rewiring in retinitis pigmentosa using pathoconnectomics and predicts altered signaling patterns in Aii amacrine cells.
DOI 10.1101/2024.02.14.580149 - Cell BiologybioRxivPreprint
Human Amniotic Epithelial Cells Promote Chx10-/Pax6+ Muller Glia Subpopulation Reprogramming into Photoreceptor-like Cells
Hui Gao, Zhiyuan Yin, Xiaona Huang…·Haiwei Xu
This study identifies a specific Muller glia subpopulation that can be reprogrammed into photoreceptor-like cells through transplantation of human amniotic epithelial cells.
- NeurosciencebioRxivPreprint
Hexafluoro slows retinal degeneration and improves visual function in zebrafish models of Usher syndrome 1F
Jennifer B. Phillips, Siena Kulis, Sara H. Buchner…·Monte Westerfield
Hexafluoro improves visual function and reduces retinal degeneration in zebrafish models of Usher syndrome 1F by protecting photoreceptors from light-induced damage.
2 citations - NeurosciencebioRxivPreprint
Molecular identification of wide-field amacrine cells in mouse retina that encode stimulus orientation
Silvia J. Park, Wanyu Lei, John Pisano…·Jonathan B. Demb
This study identifies and characterizes wide-field amacrine cells in mouse retina that encode stimulus orientation through molecular and functional analysis.
7 citations - Cell BiologybioRxivPreprint
Chemically induced in vivo retinal neuron regeneration rescues vision in mice
Rana Muhammad Shoaib, Sasha Medvidovik, Laura Korobkova…·Biraj Mahato
This study identifies a small molecule cocktail that reprograms Muller glia into retinal neurons, restoring vision in mice with RGC injury.
2 citations - NeurosciencebioRxivPreprint
PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F
Maryna V. Ivanchenko, Daniel M. Hathaway, Eric M. Mulhall…·David P. Corey
This paper demonstrates a dual-AAV gene therapy strategy for USH1F, restoring hearing, balance, and retinal function in mouse and human models.
- Genetic & Genomic MedicinemedRxivPreprint
ABCA4-Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity
Mariam Ibrahim, Lama Jaffal, Alexandre Assi…·Saïd El Shamieh
This study identifies a novel ABCA4 mutation and demonstrates significant genetic and phenotypic diversity in ABCA4 retinopathies among Lebanese families.
DOI 10.1101/2023.11.09.23298241 - Molecular BiologybioRxivPreprint
Efficient workflow for validating homology-independent targeted integration-mediated gene insertion in rod photoreceptor cells to treat dominant-negative mutations causing retinitis pigmentosa
Akishi Onishi, Yuji Tsunekawa, Michiko Mandai…·Masayo Takahashi
1 citation - NeurosciencebioRxivPreprint
High temporal frequency light response in mouse retina requires FAT3 signaling in bipolar cells
Evelyn C. Avilés, Sean K. Wang, Sarina Patel…·Yunlu Xue
This study identifies FAT3's role in bipolar cells for high-frequency light response in mouse retina, showing its necessity for synaptic localization of GRIK1.
DOI 10.1101/2023.11.02.565326 - NeurosciencebioRxivPreprint
Robust reprogramming of glia into neurons by inhibition of Notch signaling and NFI factors in adult mammalian retina.
Nguyet Le, Trieu-Duc Vu, Isabella Palazzo…·Thanh V. Hoang
This study shows that inhibiting Notch signaling and NFI factors can efficiently reprogram adult mammalian retinal glia into neurons, with enhanced effects under retinal injury.
- GeneticsbioRxivPreprint
Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion
Shiyu Luo, Bilal K. AlWattar, Qifei Li…·Pankaj B. Agrawal
This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.
- Developmental BiologybioRxivPreprint
Identification of Evolutionarily Conserved VSX2 Enhancers in Retinal Development
Victoria Honnell, Shannon Sweeney, Jacqueline L. Norrie…·Michael A. Dyer
The paper identifies evolutionarily conserved VSX2 enhancer modules in retinal development and shows their functional conservation across species.
- GeneticsbioRxivPreprint
Pharmacological cAMP stimulation via prostaglandin receptors rescues ciliary defects in CEP290-deficient patient and mouse models
France de Malglaive, Iris Barny, Shahd Machroub…·Jean‐Philippe Annereau
This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.
4 citations - Developmental BiologybioRxivPreprint
DISTINCT METABOLIC STATES DIRECT RETINAL PIGMENT EPITHELIUM CELL FATE DECISIONS
J. Raúl Pérez-Estrada, Jared A. Tangeman, Maeve Proto-Newton…·Katia Del Rio‐Tsonis
This study shows that metabolic states, particularly glycolysis and oxidative metabolism, influence RPE cell fate decisions during regeneration.
2 citations - Cell BiologybioRxivPreprint
Overexpression of Rheb, a positive Tor regulator, reveals principles of rod outer segment size control
Larissa Gilliam, John J. Willoughby, William Ebo Annan…·Abbie M. Jensen
This study shows that increasing rod outer segment growth in zebrafish does not lead to accelerated shedding, revealing principles of size control.
- NeurosciencebioRxivPreprint
Spatial distribution and functional integration of displaced ipRGCs
Sabrina Duda, Christoph T. Block, Dipti R. Pradhan…·Christian Puller
This study investigates the spatial distribution and functional integration of displaced ipRGCs in mice, showing they form complete mosaics with their regularly placed counterparts.
- PathologybioRxivPreprint
Abca4 inhibition in a cone-rich rodent leads to Stargardt Disease type 1-like retinal degeneration
Fabiana Sassone, Michel Joseph Roux, Dominique Ciocca…·David Hicks
This study shows that Abca4 inhibition in a cone-rich rodent model leads to retinal degeneration similar to human Stargardt Disease type 1.
DOI 10.1101/2023.09.04.556201