NR2E3 Antibody

1. A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made. PMID: 29193891
2. The patient presented characteristic symptoms, morphology and electrophysiological characteristics for S-cone deficiency syndrome and presented heterozygous for two mutations, one of which (c.790G>A; p.G264R in NR2E3), to our knowledge, has not been previously reported. PMID: 27573156
3. A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype PMID: 29034877
4. Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1) are human orthologs of the NR2E group. PMID: 28300834
5. The frameshift mutation found in patient 1, p.I307LfsX33, is a new causative mutation for ESCS; it is located in exon 6. This mutation truncates the 410 amino acids in the normal NR2E3 protein into 306 amino acids and causes the synthesis of a protein lacking more than half of the ligand-binding domain. PMID: 27522502
6. Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene PMID: 26910043
7. NR2E3 is a novel epigenetic regulator that helps to maintain a normal epigenetic status in response to benzo(a)pyrene mediated toxic injury. NR2E3 may be a potential target for cancer prevention. PMID: 26149760
8. Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway. PMID: 24747967
9. Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms PMID: 25079116
10. Molecular genetic studies helped to identify a novel p.D406G mutation in NR2E3 of the Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina affected members. PMID: 24891813
11. Genetic screening confirmed the presence of two disease-causing mutations in the NR2E3 gene in each study patient, as well as identified a novel mutation (202 A > G, S68G). PMID: 23604511
12. PNR/NR2E3 and related NRs such as TLX and COUPTFs can selectively associate with the developmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y within the RID1 domain. PMID: 23975195
13. The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations. PMID: 23039133
14. we report novel mutations in the NR2E3 gene that were discovered in 2 cases with enhanced S-cone syndrome. PMID: 23374571
15. Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a deletion-cum-insertion in NR2E3. PMID: 22605927
16. The presence of a double concentric hyperautofluorescent ring of FAF may represent a highly penetrant early phenotypic marker of NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa PMID: 22661467
17. NR2E3 is essential for expression of ESR1 in ER-positive breast cancer cells by binding directly to the proximal region of the ESR1 promoter. PMID: 22174013
18. In HeLa cells, PNR stimulated tumor suppressor p53-responsive promoters in a tumor suppressor p53-dependent fashion and induced apoptosis in several cell types. PMID: 22025681
19. The purpose of this study was to compare the nature and implications of mutations in NR2E3 in two subjects with enhanced S Cone Syndrome who have significantly different degrees of degenerative damage. PMID: 21364904
20. This homozygous mutation is likely to affect binding to target DNA sites, resulting in a non-functional behavior of NR2E3 protein. PMID: 20725840
21. In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. PMID: 19933183
22. Helicoid subretinal fibrosis is another potential phenotypic manifestation of recessive NR2E3 mutation. PMID: 20212206
23. DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX PMID: 19823680
24. A review of disease-associated NR2E3 mutations. PMID: 19718767
25. In 16 ESCS patients with the most common NR2E3 mutation, R311Q, we documented an abnormal ratio of S to L/M cone function and progressive retinal degeneration. We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q PMID: 11773633
26. We found that enhanced S-cone syndrome, Goldmann-Favre syndrome and clumped pigmentary retinal degeneration can all have the same genetic basis. PMID: 12963616
27. involved in regulating the expression of rod photoreceptor-specific genes at the transcriptional level PMID: 15190009
28. A role for NR2E3 in the rod developmental pathway is suggested. PMID: 15277507
29. Fifteen different mutations were identified, including six not previously reported, in patients with Enhanced S Cone Syndrome PMID: 15459973
30. These experiments show that in mature vertebrate retina Nr2e3 is expressed exclusively in rods and that Nr2e3 functions as a repressor of cone-specific genes in rod photoreceptor cells. PMID: 15634773
31. Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors. PMID: 15689355
32. Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS (enhanced S-cone syndrome) PMID: 16225923
33. We describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for autosomal dominant retinitis pigmentosa. PMID: 17564971
34. Gly56Arg mutation in NR2E3 accounts for approximately 1%-2% of adRP, making it one of the more common single mutations in autosomal dominant retinitis pigmentosa. PMID: 17982421
35. NR2E3 gene mutational analyses were carried out in 103 unrelated subjects with different retinal diseases. A total of 14 different sequence variants were identified, including 3 mutations, 6 rare sequence variants and five polymorphisms PMID: 18294254
36. The phenotype in enhanced S-cone syndrome is variable, both in fundus appearance and in the severity of the electrophysiological abnormalities. PMID: 18436841
37. Functional analysis determined the dominant negative activity of the p.G56R mutant protein as the molecular mechanism of autosomal dominant retinitis pigmentosa (adRP). PMID: 19006237
38. Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome. PMID: 19139342
39. Patients with NR2E3 mutations may manifest variable phenotypes. Moreover, patients who are homozygous for the same NR2E3 mutation have variable expression of retinal disease, suggesting the involvement of modifier genes. PMID: 19273793
40. This study was undertaken to determine biochemical as well as functional consequences of reported sequence variants and disease-causing mutations in NR2E3. PMID: 19898638
41. In a mouse model, Nr2e3 may function by regulating genes involved in cone cell proliferation. Mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions. PMID: 11487564

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HGNC: 7974

OMIM: 268100

KEGG: hsa:10002

UniGene: Hs.187354