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Journal Abstract Search

159 related items for PubMed ID: 32507900

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  • 3. Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
    Navinés-Ferrer A, Ruiz-Nogales S, Navarro R, Pomares E.
    Int J Mol Sci; 2022 Jul 04; 23(13):. PubMed ID: 35806438
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  • 7. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
    Gao T, Tian C, Hu Q, Liu Z, Zou J, Huang L, Zhao M.
    Biomed Res Int; 2018 Jul 04; 2018():4582816. PubMed ID: 30498755
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  • 8. Bestrophinopathy: An RPE-photoreceptor interface disease.
    Guziewicz KE, Sinha D, Gómez NM, Zorych K, Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM, Boesze-Battaglia K, Aguirre GD.
    Prog Retin Eye Res; 2017 May 04; 58():70-88. PubMed ID: 28111324
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  • 9. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W.
    Mol Genet Genomic Med; 2023 Jan 04; 11(1):e2095. PubMed ID: 36378562
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  • 10. Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.
    Johnson AA, Lee YS, Stanton JB, Yu K, Hartzell CH, Marmorstein LY, Marmorstein AD.
    Hum Mol Genet; 2013 Dec 01; 22(23):4688-97. PubMed ID: 23825107
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  • 11. BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
    Moshfegh Y, Velez G, Li Y, Bassuk AG, Mahajan VB, Tsang SH.
    Hum Mol Genet; 2016 Jul 01; 25(13):2672-2680. PubMed ID: 27193166
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  • 12. Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.
    Marmorstein AD, Johnson AA, Bachman LA, Andrews-Pfannkoch C, Knudsen T, Gilles BJ, Hill M, Gandhi JK, Marmorstein LY, Pulido JS.
    Sci Rep; 2018 Mar 14; 8(1):4487. PubMed ID: 29540715
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  • 13. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 14; 45(1):38-43. PubMed ID: 36908234
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  • 14. Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
    Ji C, Li Y, Kittredge A, Hopiavuori A, Ward N, Yao P, Fukuda Y, Zhang Y, Tsang SH, Yang T.
    Sci Rep; 2019 Dec 13; 9(1):19026. PubMed ID: 31836750
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  • 15. Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
    Kay CN, Abramoff MD, Mullins RF, Kinnick TR, Lee K, Eyestone ME, Chung MM, Sohn EH, Stone EM.
    Arch Ophthalmol; 2012 Mar 13; 130(3):357-64. PubMed ID: 22084158
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  • 16. Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
    Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q.
    Exp Eye Res; 2022 Oct 13; 223():109217. PubMed ID: 35973442
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  • 17. Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.
    Kittredge A, Zhang Y, Yang T.
    Methods Enzymol; 2021 Oct 13; 654():365-382. PubMed ID: 34120722
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  • 18. Bestrophin1: A Gene that Causes Many Diseases.
    Smith JJ, Nommiste B, Carr AF.
    Adv Exp Med Biol; 2019 Oct 13; 1185():419-423. PubMed ID: 31884648
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  • 19. Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
    Tian L, Sun T, Xu K, Zhang X, Peng X, Li Y.
    Invest Ophthalmol Vis Sci; 2017 Jul 01; 58(9):3366-3375. PubMed ID: 28687848
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  • 20. Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies.
    Guziewicz KE, McTish E, Dufour VL, Zorych K, Dhingra A, Boesze-Battaglia K, Aguirre GD.
    Adv Exp Med Biol; 2018 Jul 01; 1074():309-315. PubMed ID: 29721958
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