Associated Papers
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M et al.
Genes, 2023
A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.
da Palma MM et al.
Retinal Cases & Brief Reports, 2023
Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.
Fulton J et al.
Cell Death & Disease, 2017
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
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
Tan MH et al.
Plos One, 2013
Absence of NR2E1 mutations in patients with aniridia.
Corso-Díaz X et al.
Molecular Vision, 2012
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
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
Fradot M et al.
Molecular Vision, 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
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Wright AF et al.
Human Mutation, 2004
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
Nakamura Y et al.
Acta Ophthalmologica Scandinavica, 2004
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
Milam AH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2002
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
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