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Items: 1 to 20 of 46

1.

The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds.

Dees EW, Gilson SJ, Neitz M, Baraas RC.

Vision Res. 2015 Nov;116(Pt A):13-24. doi: 10.1016/j.visres.2015.08.015. Epub 2015 Sep 26.

PMID:
26368273
2.

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Li J, Gao B, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):4150-5. doi: 10.1167/iovs.14-16356.

PMID:
26114493
3.

Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H.

Biochem Biophys Res Commun. 2012 Jul 20;424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23.

PMID:
22732407
4.

Thyroid hormone controls cone opsin expression in the retina of adult rodents.

Glaschke A, Weiland J, Del Turco D, Steiner M, Peichl L, Glösmann M.

J Neurosci. 2011 Mar 30;31(13):4844-51. doi: 10.1523/JNEUROSCI.6181-10.2011.

5.

Signatures of selection and gene conversion associated with human color vision variation.

Verrelli BC, Tishkoff SA.

Am J Hum Genet. 2004 Sep;75(3):363-75. Epub 2004 Jul 13.

6.

Mutagenesis studies of human red opsin: trp-281 is essential for proper folding and protein-retinal interactions.

Nakayama TA, Zhang W, Cowan A, Kung M.

Biochemistry. 1998 Dec 15;37(50):17487-94.

PMID:
9860863
7.

Frequent gene conversion between human red and green opsin genes.

Zhao Z, Hewett-Emmett D, Li WH.

J Mol Evol. 1998 Apr;46(4):494-6.

PMID:
9541545
8.

Genetic heterogeneity among blue-cone monochromats.

Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al.

Am J Hum Genet. 1993 Nov;53(5):987-1000.

9.

The human blue opsin promoter directs transgene expression in short-wave cones and bipolar cells in the mouse retina.

Chen J, Tucker CL, Woodford B, Szél A, Lem J, Gianella-Borradori A, Simon MI, Bogenmann E.

Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2611-5.

11.
12.

Polymorphism in red photopigment underlies variation in colour matching.

Winderickx J, Lindsey DT, Sanocki E, Teller DY, Motulsky AG, Deeb SS.

Nature. 1992 Apr 2;356(6368):431-3.

PMID:
1557123
13.

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M.

Invest Ophthalmol Vis Sci. 2012 Dec 5;53(13):8006-15. doi: 10.1167/iovs.12-11087.

14.

Blue cone monochromatism in a female due to skewed X-inactivation.

Frederiksen AL, Duno M, Welinder LG.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):101-4. doi: 10.3109/13816810.2012.726394. Epub 2012 Sep 24.

PMID:
22998501
15.

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).

Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ.

Adv Exp Med Biol. 2012;723:595-601. doi: 10.1007/978-1-4614-0631-0_76. No abstract available.

PMID:
22183383
16.

Clinical utility gene card for: blue cone monochromatism.

Kohl S, Hamel CP.

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.232. Epub 2011 Jan 26. No abstract available.

17.

Red-Green Color Vision Defects.

Deeb SS, Motulsky AG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Sep 19 [updated 2015 Feb 5].

18.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
19.

Genetic variation in osteopontin gene is associated with susceptibility to sarcoidosis in Slovenian population.

Maver A, Medica I, Salobir B, Tercelj M, Peterlin B.

Dis Markers. 2009;27(6):295-302. doi: 10.3233/DMA-2009-0675.

20.
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