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Items: 1 to 20 of 103

1.

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

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF.

Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858.

2.

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E.

Am J Hum Genet. 2007 Jul;81(1):147-57.

3.

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

Roduit R, Escher P, Schorderet DF.

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

4.
5.

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.

Nat Genet. 2000 Feb;24(2):127-31.

PMID:
10655056
6.

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

Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG.

Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):473-8.

7.

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2007 Oct 17;13:1970-5.

PMID:
17982421
8.

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P.

Hum Mutat. 2015 Jun;36(6):599-610. doi: 10.1002/humu.22775.

9.

Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.

Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2229-35. doi: 10.1167/iovs.09-4299.

PMID:
19933183
10.

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.

Ophthalmology. 2005 Dec;112(12):2115.

PMID:
16225923
11.

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.

Arch Ophthalmol. 2003 Sep;121(9):1316-23.

PMID:
12963616
12.

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.

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

13.
14.

Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa.

Escher P, Tran HV, Vaclavik V, Borruat FX, Schorderet DF, Munier FL.

Invest Ophthalmol Vis Sci. 2012 Jul 13;53(8):4754-64. doi: 10.1167/iovs.11-8693.

PMID:
22661467
15.

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A, Friedman JS, Nishiguchi KM, Swaroop A.

Hum Mutat. 2007 Jun;28(6):589-98.

16.
17.

Phenotypic features of patients with NR2E3 mutations.

Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA.

Arch Ophthalmol. 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534.

PMID:
19139342
18.

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K.

Acta Ophthalmol Scand. 2004 Oct;82(5):616-22.

19.

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M.

Clin Genet. 2008 Apr;73(4):360-6. doi: 10.1111/j.1399-0004.2008.00963.x.

PMID:
18294254
20.
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