Associated Papers
Orphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53.
Wang Y et al.
Cell Death & Disease, 2025
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM5_ESM.xlsx › Sheet1
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Escher P
Ophthalmic Genetics, 2019
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Cai B et al.
Ophthalmic Genetics, 2019
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
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
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
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
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Schatz P et al.
Retina (philadelphia, Pa.), 0
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