Article

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases

2023-06-05

Abstract excerpt

<h4>SUMMARY</h4> Mutations in NR2E3 cause two retinal dystrophies with a distinct phenotype. NR2E3 encodes an orphan nuclear transcription factor that contributes to photoreceptor cell fate determination by repressing cone while activating rod genes. To dissect NR2E3 function, we performed scRNA-seq in the retinas of wild type and two different Nr2e3 mouse models that show phenotypes similar to patients carryi...

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Literature Corpus work: 5e4e8768-891a-508f-80e0-a9ebb6faf1a0
DOI: 10.1101/2023.06.03.543550

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