173 related articles for article (PubMed ID: 21364904)
1. Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
Udar N; Small K; Chalukya M; Silva-Garcia R; Marmor M
Mol Vis; 2011 Feb; 17():519-25. PubMed ID: 21364904
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
Rocha-Sousa A; Hayashi T; Gomes NL; Penas S; Brandão E; Rocha P; Urashima M; Yamada H; Tsuneoka H; Falcão-Reis F
Graefes Arch Clin Exp Ophthalmol; 2011 Feb; 249(2):201-8. PubMed ID: 20725840
[TBL] [Abstract][Full Text] [Related]
3. 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
Jpn J Ophthalmol; 2016 Nov; 60(6):476-485. PubMed ID: 27522502
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16225923
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 19139342
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10655056
[TBL] [Abstract][Full Text] [Related]
7. 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
Mol Vis; 2014; 20():724-31. PubMed ID: 24891813
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 12963616
[TBL] [Abstract][Full Text] [Related]
9. 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
Graefes Arch Clin Exp Ophthalmol; 2013 Oct; 251(10):2299-309. PubMed ID: 23604511
[TBL] [Abstract][Full Text] [Related]
10. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF; Escher P
Hum Mutat; 2009 Nov; 30(11):1475-85. PubMed ID: 19718767
[TBL] [Abstract][Full Text] [Related]
11. Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish.
Xie S; Han S; Qu Z; Liu F; Li J; Yu S; Reilly J; Tu J; Liu X; Lu Z; Hu X; Yimer TA; Qin Y; Huang Y; Lv Y; Jiang T; Shu X; Tang Z; Jia H; Wong F; Liu M
Biochim Biophys Acta Mol Basis Dis; 2019 Jun; 1865(6):1273-1283. PubMed ID: 30684641
[TBL] [Abstract][Full Text] [Related]
12. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
Collison FT; Park JC; Fishman GA; Stone EM; McAnany JJ
Doc Ophthalmol; 2016 Jun; 132(3):157-66. PubMed ID: 27033713
[TBL] [Abstract][Full Text] [Related]
13. 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
Invest Ophthalmol Vis Sci; 2018 Jul; 59(8):3209-3219. PubMed ID: 29971438
[TBL] [Abstract][Full Text] [Related]
14. Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant.
Cehajic-Kapetanovic J; Cottriall CL; Jolly JK; Shanks M; Clouston P; Charbel Issa P; MacLaren RE
Ophthalmic Genet; 2019 Feb; 40(1):29-33. PubMed ID: 30466340
[TBL] [Abstract][Full Text] [Related]
15. Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M; Ward N; Moosajee M
Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510230
[No Abstract] [Full Text] [Related]
16. Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
Lam BL; Goldberg JL; Hartley KL; Stone EM; Liu M
Am J Ophthalmol; 2007 Jul; 144(1):157-9. PubMed ID: 17601449
[TBL] [Abstract][Full Text] [Related]
17. Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.
Gurskytė V; Kozlovskaja I; Makouskaja A; Misevičė A
J AAPOS; 2023 Dec; 27(6):363-366. PubMed ID: 37806489
[TBL] [Abstract][Full Text] [Related]
18. Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.
Cideciyan AV; Jacobson SG; Gupta N; Osawa S; Locke KG; Weiss ER; Wright AF; Birch DG; Milam AH
Invest Ophthalmol Vis Sci; 2003 Mar; 44(3):1268-74. PubMed ID: 12601058
[TBL] [Abstract][Full Text] [Related]
19. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors.
Cheng H; Khan NW; Roger JE; Swaroop A
Hum Mol Genet; 2011 Nov; 20(21):4102-15. PubMed ID: 21813656
[TBL] [Abstract][Full Text] [Related]
20. Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.
Bohrer LR; Wiley LA; Burnight ER; Cooke JA; Giacalone JC; Anfinson KR; Andorf JL; Mullins RF; Stone EM; Tucker BA
Genes (Basel); 2019 Apr; 10(4):. PubMed ID: 30959774
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]