CRB1

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina
The crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), with no established genotype-phenotype correlation. We performed integrative transcriptomic and methylomic analysis of whole retina to identify dysregulated genes and pathways.
Nicholas Owen, M Toms, Y Tian, L Toualbi, R Richardson, R Young, D Tracey-White, P Dhami, S Beck, M Moosajee
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Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina
Determining the functional disparty between CRB1 variants causing LCA and RP
Leveraging cutting-edge model systems to further understand CRB1-related eye disease
Nicholas Owen
Determining the functional disparty between CRB1 variants causing LCA and RP