Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.
Hassanpoor N et al.
European Journal of Ophthalmology, 2024
Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
Xiao S et al.
Genes, 2023
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M et al.
Genes, 2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER et al.
Ophthalmology. Retina, 2021
Interspecies Correlations between Human and Mouse NR2E3-Associated Recessive Disease.
Iannaccone A et al.
Journal of Clinical Medicine, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A et al.
Ophthalmology, 2018
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
Kuniyoshi K et al.
Japanese Journal of Ophthalmology, 2016
Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
von Alpen D et al.
Human Mutation, 2015
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome.
Chakraborty D et al.
Plos One, 2013
Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
Yang Y et al.
Investigative Ophthalmology & Visual Science, 2010
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF et al.
Human Mutation, 2009
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
Kanda A et al.
Molecular Vision, 2009
Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
Roduit R et al.
Plos One, 2009
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
Escher P et al.
Human Mutation, 2009
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
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
Lam BL et al.
American Journal of Ophthalmology, 2007
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.
Monajemi H et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
Hayashi T et al.
Ophthalmology, 2005
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0