Citations for
1CBBM1, OPN1LW, OPN1MW
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B.
Int J Mol Sci Jun 20;23(12):6868. doi: 10.3390/ijms23126868 2022
2OPN1LW, OPN1MW
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders
Neitz M, Neitz J.
Genes (Basel). Jul 29;12(8):1180. doi: 10.3390/genes12081180. 2021
3CBBM1, OPN1LW, OPN1MW
Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.
Llorente-La-Orden C, Burgos-Blasco B, Domingo-Gordo B, Hernández-García E, Gómez-de-Liaño R.
J Pediatr Genet. Aug 31;11(2):151-153. doi: 10.1055/s-0040-1716332 2020
4ARR3, MAPK15, MEF2C, OPN1MW, PDE6H
Retinal expression and localization of Mef2c support its important role in photoreceptor gene expression
Wolf A, Aslanidis A, Langmann T.
Biochem Biophys Res Commun. Jan 29;483(1):346-351. doi: 10.1016/j.bbrc.2016.12.141. Epub 2016 Dec 23. 2017
5OPN1LW, OPN1MW
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. Nov;116(Pt A):13-24. doi: 10.1016/j.visres.2015.08.015. Epub 2015 Sep 26. 2015
6OPN1LW, OPN1MW
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.
Hum Mutat 35(11):1354-62. doi: 10.1002/humu.22679. 2014
7OPN1LW, OPN1MW
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG
Hum Gene Ther. Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30 2013
8OPN1LW, OPN1MW, OPN1SW
Cell-specific DNA methylation patterns of retina-specific genes.
Merbs SL, Khan MA, Hackler L Jr, Oliver VF, Wan J, Qian J, Zack DJ.
PLoS One 7(3):e32602. Epub 2012 Mar 5. 2012
9OPN1LW, OPN1MW
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 53(13):8006-15. doi: 10.1167/iovs.12-11087. 2012
10CORDX5, OPN1LW, OPN1MW
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 723:595-601. doi: 10.1007/978-1-4614-0631-0_76. No abstract available. 2012
11OPN1MW, OPN1SW
A mouse M-opsin monochromat: retinal cone photoreceptors have increased M-opsin expression when S-opsin is knocked out.
Daniele LL, Insinna C, Chance R, Wang J, Nikonov SS, Pugh EN Jr.
Vision Res 51(4):447-58. Epub 2011 Jan 8. 2011
12OPN1LW, OPN1MW
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 31(13):4844-51. doi: 10.1523/JNEUROSCI.6181-10.2011. 2011
13CORDX5, OPN1LW, OPN1MW
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
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.
Am J Hum Genet 87(1):26-39. Epub 2010 Jun 24.PMID: 20579627 2010
14CBBM1, CBD, OPN1MW
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.
Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M.
Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2009 Nov 23. [Epub ahead of print]PMID: 19934058 2009
15OPN1MW, OPN1SW, RORA
Retinoic acid receptor-related orphan receptor alpha regulates a subset of cone genes during mouse retinal development.
Fujieda H, Bremner R, Mears AJ, Sasaki H.
J Neurochem 108(1):91-101. Epub 2008 Nov 8. 2009
16ARR3, CRX, GCAP1, GNB3, GNGT1, GNGT2, IMPDH1, OPN1LW, OPN1MW, PDE6C, RP1L1, TIMP3
Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.
Liu Y, Fu L, Chen DG, Deeb SS.
Vision Res 47(17):2314-26. Epub 2007 Jul 25. 2007
17OPN1MW, OPN1LW
Novel form of a single X-linked visual pigment gene in a unique dichromatic color-vision defect.
Hayashi T, Kubo A, Takeuchi T, Gekka T, Goto-Omoto S, Kitahara K.
Vis Neurosci 23(3-4):411-7. 2006
18CBD, OPN1MW
X-linked cone dysfunction syndrome with myopia and protanopia.
Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM.
Ophthalmology 112(8):1448-54. 2005
19TEX28, CBD, OPN1MW
An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays.
Ueyama H, Torii R, Tanabe S, Oda S, Yamade S.
J Hum Genet 49(10):548-57. Epub 2004 Sep 17. 2004
20OPN1MW, OPN1LW
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.
Graefes Arch Clin Exp Ophthalmol 242(9):729-35. 2004
21CBD, CBP, OPN1LW, OPN1MW
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.
Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS.
Hum Mol Genet 11(1):23-32. 2002
22OPN1MW
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S.
Biochem Biophys Res Commun 294(2):205-9. 2002
23OPN1MW
The chemistry of John Dalton's color blindness.
Hunt DM, et al.
Science 267 : 984-988. 1995
24OPN1MW, OPN1LW, RGCP@
Numbers and ratios of visual pigment genes for normal red-green color vision.
Neitz M, et al.
Science 267 : 1013-1016. 1995
25CBBM1, OPN1LW, OPN1MW
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P, Willems PJ.
Genomics 29(2):323-8. 1995
26CBD, OPN1MW
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
Winderickx J, et al.
Nat Genet 1 : 251-256. 1992
27OPN1LW, OPN1MW
Selective expression of human X chromosome-linked green opsin genes.
Winderickx J, et al.
Proc Natl Acad Sci U S A 89 : 9710-9714. 1992