Associated Papers
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
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
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.
Mizobuchi K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2022
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 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
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
Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family.
Yuan Y et al.
Current Eye Research, 2011
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y et al.
Investigative Ophthalmology & Visual Science, 2010
Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper.
Swain P et al.
Molecular Vision, 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
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C et al.
Journal of Medical Genetics, 2005
Nrl is required for rod photoreceptor development.
Mears AJ et al.
Nature Genetics, 2001
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