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Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development.
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A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made.
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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.
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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
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Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1) are human orthologs of the NR2E group.
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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.
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Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene
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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.
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Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway.
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Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms
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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.
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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).
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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.
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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.
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we report novel mutations in the NR2E3 gene that were discovered in 2 cases with enhanced S-cone syndrome.
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Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a deletion-cum-insertion in NR2E3.
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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
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NR2E3 is essential for expression of ESR1 in ER-positive breast cancer cells by binding directly to the proximal region of the ESR1 promoter.
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In HeLa cells, PNR stimulated tumor suppressor p53-responsive promoters in a tumor suppressor p53-dependent fashion and induced apoptosis in several cell types.
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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.
