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Items: 1 to 20 of 176

1.

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
2.

Characterization of human GRK7 as a potential cone opsin kinase.

Chen CK, Zhang K, Church-Kopish J, Huang W, Zhang H, Chen YJ, Frederick JM, Baehr W.

Mol Vis. 2001 Dec 21;7:305-13.

4.
5.

Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.

Horner TJ, Osawa S, Schaller MD, Weiss ER.

J Biol Chem. 2005 Aug 5;280(31):28241-50. Epub 2005 Jun 9.

6.

Highly effective phosphorylation by G protein-coupled receptor kinase 7 of light-activated visual pigment in cones.

Tachibanaki S, Arinobu D, Shimauchi-Matsukawa Y, Tsushima S, Kawamura S.

Proc Natl Acad Sci U S A. 2005 Jun 28;102(26):9329-34. Epub 2005 Jun 15.

7.

M opsin phosphorylation in intact mammalian retinas.

Liu P, Osawa S, Weiss ER.

J Neurochem. 2005 Apr;93(1):135-44.

8.

Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses.

Lyubarsky AL, Chen C, Simon MI, Pugh EN Jr.

J Neurosci. 2000 Mar 15;20(6):2209-17.

9.

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. Epub 2005 Oct 12.

PMID:
16225923
10.

The cloning of GRK7, a candidate cone opsin kinase, from cone- and rod-dominant mammalian retinas.

Weiss ER, Raman D, Shirakawa S, Ducceschi MH, Bertram PT, Wong F, Kraft TW, Osawa S.

Mol Vis. 1998 Dec 8;4:27.

11.

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
12.

The spatial and temporal expression of outer segment proteins during development of Macaca monkey cones.

Sears S, Erickson A, Hendrickson A.

Invest Ophthalmol Vis Sci. 2000 Apr;41(5):971-9.

PMID:
10752930
13.
14.

Ectopic expression of cone-specific G-protein-coupled receptor kinase GRK7 in zebrafish rods leads to lower photosensitivity and altered responses.

Vogalis F, Shiraki T, Kojima D, Wada Y, Nishiwaki Y, Jarvinen JL, Sugiyama J, Kawakami K, Masai I, Kawamura S, Fukada Y, Lamb TD.

J Physiol. 2011 May 1;589(Pt 9):2321-48. doi: 10.1113/jphysiol.2010.204156. Epub 2011 Mar 8.

15.

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. doi: 10.1007/s00417-010-1482-y. Epub 2010 Aug 20.

PMID:
20725840
16.

Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms.

Nikonov SS, Daniele LL, Zhu X, Craft CM, Swaroop A, Pugh EN Jr.

J Gen Physiol. 2005 Mar;125(3):287-304.

17.

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.

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.

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. doi: 10.1007/s10633-016-9535-0. Epub 2016 Mar 31.

PMID:
27033713
20.

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.

PMID:
17601449

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