1 | RHO
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| The cytoplasmic tail of rhodopsin triggers rapid rod degeneration in kinesin-2 mutants.
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| Feng D, Chen Z, Yang K, Miao S, Xu B, Kang Y, Xie H, Zhao C.
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| J Biol Chem Biol Chem. 2017 Aug 30. pii: jbc.M117.784017. doi: 10.1074/jbc.M117.784017. [Epub ahead of print]
2017
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2 | RHO
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| Bidirectional regulation of fragile X mental retardation protein phosphorylation controls rhodopsin homoeostasis.
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| Wang X, Mu Y, Sun M, Han J.
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| J Mol Cell Biol 9(2):104-116. doi: 10.1093/jmcb/mjw041.
2017
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3 | ARF4, GBF1, RHO
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| The Arf GEF GBF1 and Arf4 synergize with the sensory receptor cargo, rhodopsin, to regulate ciliary membrane trafficking.
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| Wang J, Fresquez T, Kandachar V, Deretic D.
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| J Cell Sci. Dec 1;130(23):3975-3987. doi: 10.1242/jcs.205492. Epub 2017 Oct 12 2017
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4 | CSNB6, RHO
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| Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.
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| Singhal A, Guo Y, Matkovic M, Schertler G, Deupi X, Yan EC, Standfuss J.
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| EMBO Rep 17(10):1431-1440. Epub 2016 Jul 25.
2016
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5 | RHO
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| Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution.
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| Fernández-Sampedro MA, Invergo BM, Ramon E, Bertranpetit J, Garriga P.
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| Sci Rep 6:21570. doi: 10.1038/srep21570.
2016
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6 | PRCD, RHO
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| Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability.
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| Spencer WJ, Pearring JN, Salinas RY, Loiselle DR, Skiba NP, Arshavsky VY.
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| Biochemistry Sep 13;55(36):5028-37. doi: 10.1021/acs.biochem.6b00489. Epub 2016 Aug 30 2016
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7 | GUCY1A3, RHO
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| Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking.
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| Pearring JN, Spencer WJ, Lieu EC, Arshavsky VY.
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| Elife 4. pii: e12058. doi: 10.7554/eLife.12058.
2015
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8 | RHO
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| Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.
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| Tang K, Wang W, Wang Q, Wang L, Bai H, Jiang Y, Huang Y.
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| Int J Clin Exp Pathol 8(3):3174-9. eCollection 2015.
2015
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9 | RHO
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| Glycosylation of rhodopsin is necessary for its stability and incorporation into photoreceptor outer segment discs.
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| Murray AR, Vuong L, Brobst D, Fliesler SJ, Peachey NS, Gorbatyuk MS, Naash MI, Al-Ubaidi MR.
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| Hum Mol Genet 24(10):2709-23. doi: 10.1093/hmg/ddv031. Epub 2015 Jan 30.
2015
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10 | RER1, RHO
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| Rer1p regulates the ER retention of immature rhodopsin and modulates its intracellular trafficking.
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| Yamasaki A, Hara T, Maejima I, Sato M, Sato K, Sato K.
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| Sci Rep 4:5973. doi: 10.1038/srep05973.
2014
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11 | RHO, RP4
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| The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.
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| Hollingsworth TJ, Gross AK.
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| J Biol Chem 288(40):29047-55. doi: 10.1074/jbc.M113.495184. Epub 2013 Aug 12.
2013
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12 | RHO, RP4
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| Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
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| Rivera-De la Parra D, Cabral-Macias J, Matias-Florentino M, Rodriguez-Ruiz G, Robredo V, Zenteno JC.
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| Gene 519(1):173-6. doi: 10.1016/j.gene.2013.01.048. Epub 2013 Feb 9.
2013
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13 | RHO, SAG
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| Rapid degeneration of rod photoreceptors expressing self-association-deficient arrestin-1 mutant.
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| Song X, Seo J, Baameur F, Vishnivetskiy SA, Chen Q, Kook S, Kim M, Brooks EK, Altenbach C, Hong Y, Hanson SM, Palazzo MC, Chen J, Hubbell WL, Gurevich EV, Gurevich VV.
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| Cell Signal. Dec;25(12):2613-24. doi: 10.1016/j.cellsig.2013.08.022. Epub 2013 Sep 3. 2013
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14 | GNAT1, GNB1, PDE6G, RGS9, RHO, SLC24A1
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| Selection of Phototransduction Genes in Homo sapiens
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| Christopher M, Scheetz TE, Mullins RF, Abràmoff MD
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| Invest Ophthalmol Vis Sci. Aug 13;54(8):5489-96. doi: 10.1167/iovs.12-11454. 2013
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15 | KAT5, NRL, RHO
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| Transcriptional activity of neural retina leucine zipper (Nrl) is regulated by c-Jun N-terminal kinase and Tip60 during retina development.
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| Kim JW, Jang SM, Kim CH, An JH, Choi KH.
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| Mol Cell Biol 32(9):1720-32. doi: 10.1128/MCB.06440-11. Epub 2012 Feb 21.
2012
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16 | CSNB6, RHO
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| Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness.
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| Kawamura S, Colozo AT, Ge L, Müller DJ, Park PS.
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| J Biol Chem 287(26):21826-35. doi: 10.1074/jbc.M112.340182. Epub 2012 May 1.
2012
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17 | RHO
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| Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.
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| Toledo D, Ramon E, Aguilà M, Cordomí A, Pérez JJ, Mendes HF, Cheetham ME, Garriga P.
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| J Biol Chem. 286(46):39993-40001 2011
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18 | RHO
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| Severe retinal degeneration caused by a novel rhodopsin mutation.
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| Liu H, Wang M, Xia CH, Du X, Flannery JG, Ridge KD, Beutler B, Gong X.
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| Invest Ophthalmol Vis Sci. 51(2):1059-65. 2010
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19 | ABCA4, ARMS2, CFH, FBLN5, PRPF31, PRPF31, RHO, RPGR, USH2A
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| Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
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| Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS.
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| Nat Rev Genet. 11(4):273-284. 2010
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20 | ARRP1, RHO, RP4
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| Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.
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| Li S, Xiao X, Wang P, Guo X, Zhang Q.
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| Biochem Biophys Res Commun 401(1):42-7. Epub 2010 Sep 9.
2010
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21 | RHO
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| Engineered zinc finger nuclease-mediated homologous recombination of the human rhodopsin gene.
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| Greenwald DL, Cashman SM, Kumar-Singh R.
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| Invest Ophthalmol Vis Sci. 51(12):6374-80. 2010
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22 | ASAP1, RHO
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| Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4.
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| Mazelova J, Astuto-Gribble L, Inoue H, Tam BM, Schonteich E, Prekeris R, Moritz OL, Randazzo PA, Deretic D.
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| EMBO J 28(3):183-92. Epub 2009 Jan 15.
2009
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23 | RHO
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| A dual role for EDEM1 in the processing of rod opsin.
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| Kosmaoglou M, Kanuga N, Aguilà M, Garriga P, Cheetham ME.
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| J Cell Sci. 122(Pt 24):4465-72. 2009
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24 | RHO, RP4
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| Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations.
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| Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.
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| Invest Ophthalmol Vis Sci 49(4):1580-90. 2008
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25 | CSNB6, RHO
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| Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
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| Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W.
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| Invest Ophthalmol Vis Sci 49(9):4105-14. Epub 2008 May 16.
2008
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26 | RHO, RP4
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| Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.
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| Mendes HF, Cheetham ME.
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| Hum Mol Genet 17(19):3043-54. Epub 2008 Jul 17.
2008
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27 | IMPDH1, RHO
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| IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.
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| Mortimer SE, Xu D, McGrew D, Hamaguchi N, Lim HC, Bowne SJ, Daiger SP, Hedstrom L.
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| J Biol Chem 283(52):36354-60. Epub 2008 Oct 30.
2008
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28 | RHO
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| Increased sensitivity to light-induced damage in a mouse model of autosomal dominant retinal disease.
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| White, D. A., Hauswirth, W. W., Kaushal, S., Lewin, A. S.
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| Invest. Ophthal. Vis. Sci. 48: 1942-1951 2007
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29 | ARRP1, RHO, RP4
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| Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.
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| Iannaccone A, Man D, Waseem N, Jennings BJ, Ganapathiraju M, Gallaher K, Reese E, Bhattacharya SS, Klein-Seetharaman J.
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| Vision Res 46(27):4556-67. Epub 2006 Oct 2.
2006
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30 | RP4, RHO
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| Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa.
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| Galy A, Roux MJ, Sahel JA, Leveillard T, Giangrande A.
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| Hum Mol Genet 14(17):2547-57. Epub 2005 Jul 27. 2005
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31 | PRPF31, RHO, RP11
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| Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
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| Yuan L, Kawada M, Havlioglu N, Tang H, Wu JY.
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| J Neurosci 25(3):748-57. 2005
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32 | RHO, SAG
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| Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.
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| Chuang JZ, Vega C, Jun W, Sung CH.
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| J Clin Invest 114(1):131-40. 2004
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33 | KLF15, RBP3, RHO
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| Kruppel-like factor 15, a zinc-finger transcriptional regulator, represses the rhodopsin and interphotoreceptor retinoid-binding protein promoters.
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| Otteson DC, Liu Y, Lai H, Wang C, Gray S, Jain MK, Zack DJ.
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| Invest Ophthalmol Vis Sci 45(8):2522-30. 2004
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34 | RHO
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| Susceptibility to retinal light damage in transgenic rats with rhodopsin mutations.
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| Organisciak, D. T., Darrow, R. M., Barsalou, L., Kutty, R. K., Wiggert, B.
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| Invest. Ophthal. Vis. Sci. 44: 486-492 2003
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35 | RHO
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| Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa.
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| Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM.
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| Proc Natl Acad Sci U S A. 99(9):6328-33. 2002
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36 | RHO
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| Crystal structure of rhodopsin: A G protein-coupled receptor.
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| Palczewski K, Kumasaka T, Hori T, Behnke CA, Motoshima H, Fox BA, Le Trong I, Teller DC, Okada T, Stenkamp RE, Yamamoto M, Miyano M.
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| Science 289(5480):739-45. 2000
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37 | RHO
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| Interaction between the conserved region in the C-terminal domain of GRK2 and rhodopsin is necessary for GRK2 to catalyze receptor phosphorylation.
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| Gan XQ, Wang JY, Yang QH, Li Z, Liu F, Pei G, Li L.
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| J Biol Chem. 275(12):8469-74. 2000
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38 | RHO
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| The amino terminus of the fourth cytoplasmic loop of rhodopsin modulates rhodopsin-transducin interaction.
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| Marin EP, Krishna AG, Zvyaga TA, Isele J, Siebert F, Sakmar TP.
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| J Biol Chem. 275(3):1930-6. 2000
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39 | RHO
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| Rapid and reproducible deactivation of rhodopsin requires multiple phosphorylation sites.
|
| Mendez A, Burns ME, Roca A, Lem J, Wu LW, Simon MI, Baylor DA, Chen J.
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| Neuron. 28(1):153-64. 2000
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40 | RHO
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| Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration.
|
| Grimm C, Wenzel A, Hafezi F, Yu S, Redmond TM, Remé CE.
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| Nature Genet. 25(1):63-6. 2000
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41 | RHO
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| Rescue of photoreceptor degeneration in rhodopsin-null Drosophila mutants by activated Rac1.
|
| Chang HY, Ready DF.
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| Science 290(5498):1902-3. 2000
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42 | CSNB6, RHO
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| A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
|
| Al-Jandal N, et al.
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| Hum Mutat 13 : 75-81. 1999
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43 | RHO, RP4
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| Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.
|
| Cideciyan AV, et al.
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| Proc Natl Acad Sci U S A 95 : 7103-7108. 1998
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44 | RHO, RP4
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| Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.
|
| Capeans C, et al.
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| Hum Hered 48 : 237-240. 1998
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45 | RHO, RP4
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| Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
|
| Milla E, Heon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL.
|
| Ophthalmic Genet 19(3):131-9. 1998
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46 | RHO
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| Retinopathy induced in mice by targeted disruption of the rhodopsin gene.
|
| Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P.
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| Nat Genet. 15(2):216-9. 1997
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47 | RHO
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| Structural and enzymatic aspects of rhodopsin phosphorylation.
|
| Ohguro H, Rudnicka-Nawrot M, Buczyłko J, Zhao X, Taylor JA, Walsh KA, Palczewski K.
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| J Biol Chem. 271(9):5215-24. 1996
|
48 | RHO
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| RER, an evolutionarily conserved sequence upstream of the rhodopsin gene, has enhancer activity.
|
| Nie Z, Chen S, Kumar R, Zack DJ.
|
| J Biol Chem. 271(5):2667-75. 1996
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49 | RP4, RHO, D3S621
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| Autosomal dominant retinitis pigmentosa : no evidence for nonallelic genetic heterogeneity on 3q.
|
| Kumar-Singh R, et al.
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| Am J Hum Genet 52 : 319-326. 1993
|
50 | RHO
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| Molecular cloning and expression of GRK6. A new member of the G protein-coupled receptor kinase family.
|
| Benovic JL, Gomez J.
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| J Biol Chem. 268(26):19521-7. 1993
|
51 | RHO
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| Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
|
| Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayes A, Molday RS, Mukai S, Cowley GS, Berson EL, Dryja TP.
|
| Neuron. 9(5):815-30. 1992
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52 | RHO
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| Rhodopsin, photoreceptor of the rod cell. An emerging pattern for structure and function.
|
| Khorana HG.
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| J Biol Chem. 267(1):1-4. 1992
|
53 | RHO, RP4
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| Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.
|
| Sung CH, et al.
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| Proc Natl Acad Sci U S A 88 : 8840-8844. 1991
|