| The Loss of an Orphan Nuclear Receptor NR2E3 Augments Wnt/beta-catenin Signaling via Epigenetic Dysregulation that Enhances Sp1-beta catenin-p300 Interactions in Hepatocellular Carcinoma. | The Loss of an Orphan Nuclear Receptor NR2E3 Augments Wnt/β-catenin Signaling via Epigenetic Dysregulation that Enhances Sp1-β catenin-p300 Interactions in Hepatocellular Carcinoma.
Leung YK, Lee SG, Wang J, Guruvaiah P, Rusch NJ, Ho SM, Park C, Kim K., Free PMC Article | 09/16/2024 |
| NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development. | NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development.
Mullin NK, Bohrer LR, Voigt AP, Lozano LP, Wright AT, Bonilha VL, Mullins RF, Stone EM, Tucker BA., Free PMC Article | 07/8/2024 |
| Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review. | Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
Xiao S, Yi Z, Xiao X, Li S, Jia X, Lian P, Sun W, Wang P, Lu L, Zhang Q., Free PMC Article | 08/30/2023 |
| Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. | Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M, Ward N, Moosajee M., Free PMC Article | 08/9/2023 |
| Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models. | Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.
Aísa-Marín I, López-Iniesta MJ, Milla S, Lillo J, Navarro G, de la Villa P, Marfany G. | 10/30/2021 |
| Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. | Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM., Free PMC Article | 07/24/2021 |
| Authors overexpressed wild type (WT) or mutant NR2E3 in RPE-1 cells, followed by AON treatment. Transcript and protein levels of WT and mutant NR2E3 were detected by reverse transcription quantitative polymerase chain reaction (RT-qPCR) and Western blot respectively. | Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.
Naessens S, Ruysschaert L, Lefever S, Coppieters F, De Baere E., Free PMC Article | 02/15/2020 |
| our work revealed the novel role of NR2E3 as a positive upstream transcriptional regulator of AHR. Loss of NR2E3 caused repression of AHR by epigenetic reprogramming, which altered the active H3K4me2 status by modulating LSD1 distribution and activity. | Loss of NR2E3 represses AHR by LSD1 reprogramming, is associated with poor prognosis in liver cancer.
Khanal T, Choi K, Leung YK, Wang J, Kim D, Janakiram V, Cho SG, Puga A, Ho SM, Kim K., Free PMC Article | 05/25/2019 |
| Murine proof-of-concept studies suggest that clinical trials of patients with NR2E3 mutations may be forthcoming. Patterns of S-cone hyperfunction across the field would serve as a means to categorize patients as entry criteria or cohort selection in clinical trials. | Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG. | 03/23/2019 |
| Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development. | Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S. | 02/2/2019 |
| A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made. | A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.
Mahajan D, Votruba M. | 11/3/2018 |
| 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. | A new mutation in enhanced S-cone syndrome.
Termühlen J, Alex AF, Glöckle N, Kellner U, Fiedler B, Eter N, Uhlig CE. | 11/3/2018 |
| 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 | Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Terray A, Slembrouck A, Nanteau C, Chondroyer C, Zeitz C, Sahel JA, Audo I, Reichman S, Goureau O. | 07/7/2018 |
| Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1) are human orthologs of the NR2E group. | Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.
Fulton J, Mazumder B, Whitchurch JB, Monteiro CJ, Collins HM, Chan CM, Clemente MP, Hernandez-Quiles M, Stewart EA, Amoaku WM, Moran PM, Mongan NP, Persson JL, Ali S, Heery DM., Free PMC Article | 10/28/2017 |
| 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. | New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. | 03/18/2017 |
| Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene | Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
Blanco-Kelly F, García Hoyos M, Lopez Martinez MA, Lopez-Molina MI, Riveiro-Alvarez R, Fernandez-San Jose P, Avila-Fernandez A, Corton M, Millan JM, García Sandoval B, Ayuso C., Free PMC Article | 07/30/2016 |
| 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. | Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter.
Khanal T, Kim D, Johnson A, Choubey D, Kim K., Free PMC Article | 10/10/2015 |
| Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway. | IL-13Rα2 mediates PNR-induced migration and metastasis in ERα-negative breast cancer.
Zhao Z, Wang L, Xu W., Free PMC Article | 06/20/2015 |
| Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms | Clinical and molecular characterization of enhanced S-cone syndrome in children.
Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT. | 01/24/2015 |
| 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. | A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A., Free PMC Article | 10/4/2014 |
| 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). | Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
Park SP, Hong IH, Tsang SH, Lee W, Horowitz J, Yzer S, Allikmets R, Chang S., Free PMC Article | 04/12/2014 |
| 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. | A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.
Chan CM, Fulton J, Montiel-Duarte C, Collins HM, Bharti N, Wadelin FR, Moran PM, Mongan NP, Heery DM., Free PMC Article | 09/23/2013 |
| 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. | Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
Cassiman C, Spileers W, De Baere E, de Ravel T, Casteels I. | 08/31/2013 |
| we report novel mutations in the NR2E3 gene that were discovered in 2 cases with enhanced S-cone syndrome. | Novel mutations in enhanced S-cone syndrome.
Kuniyoshi K, Hayashi T, Sakuramoto H, Nakao A, Sato T, Utsumi T, Tsuneoka H, Shimomura Y. | 04/13/2013 |
| Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a deletion-cum-insertion in NR2E3. | Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G., Free PMC Article | 12/22/2012 |