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Single-Cell transcriptomic profiling of mouse retinal vascular cells reveals mechanisms of familial exudative vitreoretinopathy.

GSE305756 Mus musculus Expression profiling by high throughput sequencing 3 samples Submitted 2026/02/13 Platform GPL24247
Summary
Familial Exudative Vitreoretinopathy (FEVR) is a rare, inherited disorder characterized by a failure of peripheral retinal blood vessels to develop fully.To investigate the pathogenic mechanisms of FEVR, we conducted single-cell RNA-sequencing of retinal vascular cells from two distinct mouse models: Tspan12 knockout mice and mice with an endothelial-specific conditional knockout of Ctnnb1, which encodes β-catenin. Our analysis of the cellular and molecular profiles of these cells provides unprecedented insight into how disruption of key components of the Norrin/β-catenin pathway contributes to the pathology of FEVR.
Published in
KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation
Yang M, Zhao R, Peng L et al. · Nature communications 2026 · PMID 41872221 · doi:10.1038/s41467-026-71009-7
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Also filed as BioProject PRJNA1307562 and SRA study SRP609739. Searching any of these in the dataset finder brings you back here.

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