CRX haploinsufficiency compromises photoreceptor precursor translocation and differentiation in human retinal organoids

Abstract excerpt

Abstract Background The CRX-associated autosomal dominant retinopathies suggest a possible pathogenic mechanism of gene haploinsufficiency. However, based on reported human patient cases and studies with mouse models, it is hard to confirm the specific weight of haploinsufficiency in pathogenesis due to the interspecies gaps between gene expression and function. Methods We created monoallelic CRX by replacing one...

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