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Journal Abstract Search

122 related items for PubMed ID: 19151588

  • 1. The Ca(v)1.4 calcium channel: more than meets the eye.
    Doering CJ, Peloquin JB, McRory JE.
    Channels (Austin); 2007; 1(1):3-10. PubMed ID: 19151588
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  • 2. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
    Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT.
    J Med Genet; 2006 Aug; 43(8):699-704. PubMed ID: 16505158
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  • 3. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.
    Invest Ophthalmol Vis Sci; 2007 Jun; 48(6):2498-502. PubMed ID: 17525176
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  • 5. Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.
    Adamian M, Pawlyk BS, Hong DH, Berson EL.
    Am J Ophthalmol; 2006 Sep; 142(3):515-8. PubMed ID: 16935610
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  • 7. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
    Peloquin JB, Rehak R, Doering CJ, McRory JE.
    Neuroscience; 2007 Dec 05; 150(2):335-45. PubMed ID: 17949918
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  • 9. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul 05; 19(3):264-7. PubMed ID: 9662400
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  • 11. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.
    Naylor MJ, Rancourt DE, Bech-Hansen NT.
    Genomics; 2000 Jun 15; 66(3):324-7. PubMed ID: 10873387
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  • 12. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
    Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM.
    Clin Exp Ophthalmol; 2005 Apr 15; 33(2):129-36. PubMed ID: 15807819
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  • 15. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
    Regus-Leidig H, Atorf J, Feigenspan A, Kremers J, Maw MA, Brandstätter JH.
    PLoS One; 2014 Apr 15; 9(1):e86769. PubMed ID: 24466230
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  • 16. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
    Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT.
    Hum Mol Genet; 2005 Oct 15; 14(20):3035-46. PubMed ID: 16155113
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  • 17. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
    Knoflach D, Kerov V, Sartori SB, Obermair GJ, Schmuckermair C, Liu X, Sothilingam V, Garcia Garrido M, Baker SA, Glösmann M, Schicker K, Seeliger M, Lee A, Koschak A.
    Channels (Austin); 2013 Oct 15; 7(6):503-13. PubMed ID: 24051672
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  • 18. Cav1.4 dysfunction and congenital stationary night blindness type 2.
    Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L.
    Pflugers Arch; 2021 Sep 15; 473(9):1437-1454. PubMed ID: 34212239
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  • 19. The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
    Rashwan R, Hunt DM, Carvalho LS.
    Pflugers Arch; 2021 Sep 15; 473(9):1455-1468. PubMed ID: 34255151
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  • 20. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.
    Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J.
    J Neurochem; 2006 Mar 15; 96(6):1648-58. PubMed ID: 16476079
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