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Select item 111427321.

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development

Nathaniel K. Mullin, Laura R. Bohrer, Andrew P. Voigt, Lola P. Lozano, Allison T. Wright, Vera L. Bonilha, Robert F. Mullins, Edwin M. Stone, Budd A. Tucker

J Clin Invest. 2024 Jun 3; 134(11): e173892. Published online 2024 Apr 23. doi: 10.1172/JCI173892

PMCID:: PMC11142732

Abstract Article PDF–16M

Select item 104540552.

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review

Sainan Xiao, Zhen Yi, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Ping Lian, Wenmin Sun, Panfeng Wang, Lin Lu, Qingjiong Zhang

Genes (Basel) 2023 Aug; 14(8): 1525. Published online 2023 Jul 26. doi: 10.3390/genes14081525

PMCID:: PMC10454055

Abstract Article PDF–4.1M

Select item 77162343.

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes

Genes (Basel) 2020 Nov; 11(11): 1288. Published online 2020 Oct 29. doi: 10.3390/genes11111288

PMCID:: PMC7716234

Abstract Article PDF–2.8M

Select item 65626934.

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

Sarah Naessens, Laurien Ruysschaert, Steve Lefever, Frauke Coppieters, Elfride De Baere

Genes (Basel) 2019 May; 10(5): 363. Published online 2019 May 10. doi: 10.3390/genes10050363

PMCID:: PMC6562693

Abstract Article PDF–1.7M

Select item 53865885.

Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations

Joel Fulton, Bismoy Mazumder, Jonathan B Whitchurch, Cintia J Monteiro, Hilary M Collins, Chun M Chan, Maria P Clemente, Miguel Hernandez-Quiles, Elizabeth A Stewart, Winfried M Amoaku, Paula M Moran, Nigel P Mongan, Jenny L Persson, Simak Ali, David M Heery

Cell Death Dis. 2017 Mar; 8(3): e2677. Published online 2017 Mar 16. doi: 10.1038/cddis.2017.98

PMCID:: PMC5386588

Abstract Article PDF–1.1M

Select item 47661026.

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M. Millan, Blanca García Sandoval, Carmen Ayuso

PLoS One. 2016; 11(2): e0149473. Published online 2016 Feb 24. doi: 10.1371/journal.pone.0149473

PMCID:: PMC4766102

Abstract Article PDF–5.1M

Select item 42913227.

Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults

Sung Pyo Park, In Hwan Hong, Stephen H. Tsang, Winston Lee, Jason Horowitz, Suzanne Yzer, Rando Allikmets, Stanley Chang

Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2015 Jan 12.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2013 Oct; 251(10): 2299–2309. Published online 2013 Apr 19. doi: 10.1007/s00417-013-2296-5

PMCID:: PMC4291322

Abstract Article PDF–4.1M

Select item 40394158.

A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina

George J. Manayath, Prasanthi Namburi, Sundaresan Periasamy, Jeevan A. Kale, Venkatapathy Narendran, Anuradha Ganesh

Mol Vis. 2014; 20: 724–731. Published online 2014 May 29.

PMCID:: PMC4039415

Abstract Article PDF–1.2M

Select item 36581399.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in a same family

Pascal Escher, Peter Gouras, Raphaël Roduit, Leila Tiab, Sylvain Bolay, Tania Delarive, Shiming Chen, Chih-Cheng Tsai, Masanori Hayashi, Jana Zernant, Joanna E. Merriam, Nicolas Mermod, Rando Allikmets, Francis L. Munier, Daniel F. Schorderet

Hum Mutat. Author manuscript; available in PMC 2013 May 20.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 342–351. doi: 10.1002/humu.20858

PMCID:: PMC3658139

Abstract Article PDF–1.8M

Select item 304469510.

Developmental or degenerative – NR2E3 gene mutations in two patients with enhanced S cone syndrome

Nitin Udar, Kent Small, Meenal Chalukya, Rosamaria Silva-Garcia, Michael Marmor

Mol Vis. 2011; 17: 519–525. Published online 2011 Feb 17.

PMCID:: PMC3044695

Abstract Article PDF–1.3M

Select item 277374111.

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3

Atsuhiro Kanda, Anand Swaroop

Mol Vis. 2009; 15: 2174–2184. Published online 2009 Oct 24.

PMCID:: PMC2773741

Abstract Article PDF–1.7M

Select item 195092212.

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman, Kirsten Robberecht, Wim Wuyts, Paul J. Coucke, Elfride De Baere

Am J Hum Genet. 2007 Jul; 81(1): 147–157. Published online 2007 May 24. doi: 10.1086/518426

PMCID:: PMC1950922

Abstract Article PDF–779K

Select item 11758413.

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

Ann H. Milam, Linda Rose, Artur V. Cideciyan, Mark R. Barakat, Wai-Xing Tang, Nisha Gupta, Tomas S. Aleman, Alan F. Wright, Edwin M. Stone, Val C. Sheffield, Samuel G. Jacobson

Proc Natl Acad Sci U S A. 2002 Jan 8; 99(1): 473–478. Published online 2002 Jan 2. doi: 10.1073/pnas.022533099

PMCID:: PMC117584

Abstract Article PDF–463K

Select item 1037913314.

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease

Maria Toms, Natasha Ward, Mariya Moosajee

Genes (Basel) 2023 Jul; 14(7): 1325. Published online 2023 Jun 23. doi: 10.3390/genes14071325

PMCID:: PMC10379133

Abstract Article PDF–4.4M

Select item 558755015.

Loss of NR2E3 represses AHR by LSD1 reprogramming, is associated with poor prognosis in liver cancer

Tilak Khanal, Kwangmin Choi, Yuet-Kin Leung, Jiang Wang, Dasom Kim, Vinothini Janakiram, Sung-Gook Cho, Alvaro Puga, Shuk-Mei Ho, Kyounghyun Kim

Sci Rep. 2017; 7: 10662. Published online 2017 Sep 6. doi: 10.1038/s41598-017-11106-2

PMCID:: PMC5587550

Abstract Article PDF–2.1M

Select item 452434816.

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

Tilak Khnal, Dasom Kim, Abby Johnson, Divaker Choubey, Kyounghyun Kim

Toxicol Lett. Author manuscript; available in PMC 2016 Sep 17.

Published in final edited form as: Toxicol Lett. 2015 Sep 17; 237(3): 228–236. Published online 2015 Jul 3. doi: 10.1016/j.toxlet.2015.06.1708

PMCID:: PMC4524348

Abstract Article PDF–876K

Select item 325569617.

Orphan Nuclear Receptor PNR/NR2E3 Stimulates p53 Functions by Enhancing p53 Acetylation

Zhi Wen, Dohun Pyeon, Yidan Wang, Paul Lambert, Wei Xu, Paul Ahlquist

Mol Cell Biol. 2012 Jan; 32(1): 26–35. doi: 10.1128/MCB.05513-11

PMCID:: PMC3255696

Abstract Article PDF–2.2M

Select item 275791718.

Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX

Raphael Roduit, Pascal Escher, Daniel F. Schorderet

PLoS One. 2009; 4(10): e7379. Published online 2009 Oct 12. doi: 10.1371/journal.pone.0007379

PMCID:: PMC2757917

Abstract Article PDF–3.2M

Select item 337683419.

Reconstruction of nuclear receptor network reveals that NR2E3 is a novel upstream regulator of ESR1 in breast cancer

Yun-Yong Park, Kyounghyun Kim, Sang-Bae Kim, Bryan T Hennessy, Soo Mi Kim, Eun Sung Park, Jae Yun Lim, Jane Li, Yiling Lu, Ana Maria Gonzalez-Angulo, Woojin Jeong, Gordon B Mills, Stephen Safe, Ju-Seog Lee

EMBO Mol Med. 2012 Jan; 4(1): 52–67. doi: 10.1002/emmm.201100187