Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Orphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53.
Wang Y et al.
Cell Death & Disease, 2025
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Al-Khuzaei S et al.
Genes, 2020
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
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
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
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
Hayashi T et al.
Ophthalmology, 2005
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
Peng GH et al.
Human Molecular Genetics, 2005
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
Nakamura Y et al.
Acta Ophthalmologica Scandinavica, 2004
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Haider NB et al.
Nature Genetics, 2000