Associated Papers
NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.
Raza M et al.
Ophthalmic Genetics, 2026
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
NRL-/- gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
Cuevas E et al.
Stem Cells (dayton, Ohio), 2021
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.
Littink KW et al.
Genes, 2018
Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.
Qin Y et al.
Eye (london, England), 2017
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Newman H et al.
Investigative Ophthalmology & Visual Science, 2016
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao M et al.
Molecular Vision, 2016
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A et al.
Human Mutation, 2007
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Nishiguchi KM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF et al.
Human Mutation, 2004
Select a paper to view details