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Items: 1 to 20 of 103

1.

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 5;10(4). pii: E278. doi: 10.3390/genes10040278.

2.

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.

Lai FP, Lau ST, Wong JK, Gui H, Wang RX, Zhou T, Lai WH, Tse HF, Tam PK, Garcia-Barcelo MM, Ngan ES.

Gastroenterology. 2017 Jul;153(1):139-153.e8. doi: 10.1053/j.gastro.2017.03.014. Epub 2017 Mar 23.

PMID:
28342760
3.

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 1;1865(6):1273-1283. doi: 10.1016/j.bbadis.2019.01.022. Epub 2019 Jan 23.

PMID:
30684641
4.

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
5.

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. Epub 2002 Jan 2.

6.
7.

The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.

Peng GH, Ahmad O, Ahmad F, Liu J, Chen S.

Hum Mol Genet. 2005 Mar 15;14(6):747-64. Epub 2005 Feb 2.

PMID:
15689355
8.

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. doi: 10.1080/13816810.2018.1547912. Epub 2018 Nov 23.

PMID:
30466340
9.

Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

Bassuk AG, Zheng A, Li Y, Tsang SH, Mahajan VB.

Sci Rep. 2016 Jan 27;6:19969. doi: 10.1038/srep19969.

10.

Improved hematopoietic differentiation efficiency of gene-corrected beta-thalassemia induced pluripotent stem cells by CRISPR/Cas9 system.

Song B, Fan Y, He W, Zhu D, Niu X, Wang D, Ou Z, Luo M, Sun X.

Stem Cells Dev. 2015 May 1;24(9):1053-65. doi: 10.1089/scd.2014.0347. Epub 2015 Feb 5.

PMID:
25517294
11.

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. Epub 2015 Apr 27.

12.
13.

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.

PMID:
12601058
14.

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.

15.

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;17:519-25.

16.

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 1;20(21):4102-15. doi: 10.1093/hmg/ddr334. Epub 2011 Aug 3.

17.

The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation.

Haider NB, Demarco P, Nystuen AM, Huang X, Smith RS, McCall MA, Naggert JK, Nishina PM.

Vis Neurosci. 2006 Nov-Dec;23(6):917-29.

PMID:
17266784
18.

Targeted genome engineering in human induced pluripotent stem cells from patients with hemophilia B using the CRISPR-Cas9 system.

Lyu C, Shen J, Wang R, Gu H, Zhang J, Xue F, Liu X, Liu W, Fu R, Zhang L, Li H, Zhang X, Cheng T, Yang R, Zhang L.

Stem Cell Res Ther. 2018 Apr 6;9(1):92. doi: 10.1186/s13287-018-0839-8.

19.

CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.

Ben Jehuda R, Eisen B, Shemer Y, Mekies LN, Szantai A, Reiter I, Cui H, Guan K, Haron-Khun S, Freimark D, Sperling SR, Gherghiceanu M, Arad M, Binah O.

Heart Rhythm. 2018 Feb;15(2):267-276. doi: 10.1016/j.hrthm.2017.09.024. Epub 2017 Sep 14.

PMID:
28917552
20.

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.

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