Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity map** …

In the develo** vertebrate retina, diverse neuronal subtypes originate from multipotent
progenitors in a conserved order and are integrated into an intricate laminated architecture …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

The protein neural retina leucine zipper (Nrl) is a basic motif–leucine zipper transcription
factor that is preferentially expressed in rod photoreceptors,. It acts synergistically with Crx to …

Cis-regulatory elements (CREs) control gene expression by recruiting transcription factors
(TFs) and other DNA binding proteins. We aim to understand how individual nucleotides …

The Maf-family transcription factor Nrl is a key regulator of photoreceptor differentiation in
mammals. Ablation of the Nrl gene in mice leads to functional cones at the expense of rods …

Abstract NR2E3, a photoreceptor-specific orphan nuclear receptor, is believed to play a
pivotal role in the differentiation of photoreceptors. Mutations in the human NR2E3 gene and …

Nr2e3 is an orphan nuclear receptor expressed specifically by retinal photoreceptor cells.
Mutations in Nr2e3 result in syndromes characterized by excess blue cones and loss of …

The microRNA-183/96/182 cluster is highly expressed in the retina and other sensory
organs. To uncover its in vivo functions in the retina, we generated a knockout mouse model …

Mutations in the photoreceptor transcription factor gene cone-rod homeobox (CRX) lead to
distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber …