| 1 | CSNB, CSNB8, GRK1, SAG
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| Oguchi type I caused by a homozygous missense variation in the SAG gene.
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| Colombo L, Abeshi A, Maltese PE, Frecer V, Miertuš J, Cerra D, Bertelli M, Rossetti L.
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| Eur J Med Genet ur J Med Genet. 2018 Sep 27. pii: S1769-7212(18)30300-8. doi: 10.1016/j.ejmg.2018.09.015. [Epub ahead of print]
2018
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| 2 | RP47, SAG
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| Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant.
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| Vishnivetskiy SA, Sullivan LS, Bowne SJ, Daiger SP, Gurevich EV, Gurevich VV.
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| Invest Ophthalmol Vis Sci. Jan 1;59(1):13-20. doi: 10.1167/iovs.17-22180 2018
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| 3 | RP47, SAG
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| A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
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| Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP.
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| Invest Ophthalmol Vis Sci. May 1;58(5):2774-2784. doi: 10.1167/iovs.16-2134 2017
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| 4 | SAG
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| Functional role of the three conserved cysteines in the N domain of visual arrestin-1. 2017 PMID:
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| Vishnivetskiy SA, Lee RJ, Zhou XE, Franz A, Xu Q, Xu HE, Gurevich VV.
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| J Biol Chem. Jul 28;292(30):12496-12502. doi: 10.1074/jbc.M117.790386. Epub 2017 May 23. 2017
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| 5 | SAG
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| The physiological roles of arrestin-1 in rod photoreceptor cells.
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| Chen J.
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| Handb Exp Pharmacol. ;219:85-99. doi: 10.1007/978-3-642-41199-1_4. 2014
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| 6 | SAG
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| Engineering visual arrestin-1 with special functional characteristics.
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| Vishnivetskiy SA, Chen Q, Palazzo MC, Brooks EK, Altenbach C, Iverson TM, Hubbell WL, Gurevich VV.
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| J Biol Chem. Feb 1;288(5):3394-405. doi: 10.1074/jbc.M112.445437. Epub 2012 Dec 17. 2013
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| 7 | 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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| 8 | SAG
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| Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.
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| Sergouniotis PI, Davidson AE, Sehmi K, Webster AR, Robson AG, Moore AT.
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| Eye (Lond). 25(8):1098-101. 2011
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| 9 | SAG
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| Robust self-association is a common feature of mammalian visual arrestin-1.
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| Kim M, Hanson SM, Vishnivetskiy SA, Song X, Cleghorn WM, Hubbell WL, Gurevich VV.
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| Biochemistry Mar 29;50(12):2235-42. doi: 10.1021/bi1018607. Epub 2011 Feb 18. 2011
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| 10 | SAG
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| Visual Arrestin 1 contributes to cone photoreceptor survival and light adaptation.
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| Brown BM, Ramirez T, Rife L, Craft CM.
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| Invest Ophthalmol Vis Sci. 51(5):2372-80. 2010
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| 11 | SAG
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| Structure and function of the visual arrestin oligomer.
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| Hanson SM, Van Eps N, Francis DJ, Altenbach C, Vishnivetskiy SA, Arshavsky VY, Klug CS, Hubbell WL, Gurevich VV.
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| EMBO J 26(6):1726-36. Epub 2007 Mar 1.
2007
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| 12 | CXCR3, CXCR5, RBP3, SAG
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| Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.
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| Howard OM, Dong HF, Su SB, Caspi RR, Chen X, Plotz P, Oppenheim JJ.
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| Blood 105(11):4207-14. Epub 2005 Feb 15. 2005
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| 13 | 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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| 14 | CSNB, CSNB4, SAG
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| Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
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| .Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N
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| Jpn J Ophthalmol. 48 :350-2 2004
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| 15 | SAG
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| Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins.
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| Lee KB, Ptasienski JA, Bunemann M, Hosey MM.
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| J Biol Chem. 275(46):35767-77. 2000
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| 16 | CSNB, SAG
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| Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)
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| Chen J, Simon MI, Matthes MT, Yasumura D, LaVail MM.
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| Invest Ophthalmol Vis Sci. 40(12):2978-82. 1999
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| 17 | CSNB4, SAG
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| Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
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| Nakamachi Y, et al.
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| Am J Ophthalmol 125(2):249-51. 1998
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| 18 | CSNB, CSNB4, SAG
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| Arrestin gene mutations in autosomal recessive retinitis pigmentosa.
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| Nakazawa M, et al.
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| Arch Ophthalmol 116 : 498-501. 1998
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| 19 | ARRB1, ARRB2, ARR3, SAG
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| The role of receptor kinases and arrestins in G protein-coupled receptor regulation.
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| Krupnick JG, et al.
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| Annu Rev Pharmacol Toxicol 38 : 289-319. 1998
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| 20 | CSNB, CSNB4, SAG
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| A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
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| Fuchs S, et al.
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| Nat Genet 10 : 360-362. 1995
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| 21 | SAG
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| Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.
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| Valverde D, et al.
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| Hum Genet 94 : 193-194. 1994
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| 22 | SAG, ADRBK2, ARRB2
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| Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes.
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| Calabrese G, et al.
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| Genomics 23 : 286-288. 1994
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| 23 | SAG
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| Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin.
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| Palczewski K, Pulvermüller A, Buczyłko J, Hofmann KP.
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| J Biol Chem. 266(28):18649-54. 1991
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| 24 | SAG
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| Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37.
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| Ngo JT, et al.
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| Genomics 7 : 84-87. 1990
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| 25 | SAG
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| Ca2+ binding capacity of cytoplasmic proteins from rod photoreceptors is mainly due to arrestin.
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| Huppertz B, et al.
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| J Biol Chem 265 : 9470-9475. 1990
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| 26 | SAG
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| Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland.
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| Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T.
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| J Biol Chem. 265(34):20757-62. 1990
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