Associated Papers
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Retinal Dystrophy Associated with Homozygous Variants in NRL.
Maggi J et al.
Genes, 2024
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Iarossi G et al.
Diagnostics (basel, Switzerland), 2022
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
Hernan I et al.
Clinical Genetics, 2012
Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.
Roger JE et al.
The Journal of Biological Chemistry, 2010
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y et al.
Investigative Ophthalmology & Visual Science, 2010
Regulation of photoreceptor gene expression by Crx-associated transcription factor network.
Hennig AK et al.
Brain Research, 2008
Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper.
Swain P et al.
Molecular Vision, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
Coppieters F et al.
American Journal of Human Genetics, 2007
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A et al.
Human Mutation, 2007
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.
Perveen R et al.
Human Molecular Genetics, 2007
The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.
Friedman JS et al.
The Journal of Biological Chemistry, 2004
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.
Yoshida S et al.
Human Molecular Genetics, 2004
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
Schwartz SB et al.
Investigative Ophthalmology & Visual Science, 2003
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Bessant DA et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2003
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Chen S et al.
Human Molecular Genetics, 2002
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Martinez-Gimeno M et al.
Human Mutation, 2001
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
Bessant DA et al.
European Journal of Human Genetics : Ejhg, 2000
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
Bessant DA et al.
Nature Genetics, 1999