Associated Papers
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 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
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y et al.
Investigative Ophthalmology & Visual Science, 2010
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
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
DeAngelis MM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2002