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Journal Abstract Search

286 related items for PubMed ID: 19853238

  • 1. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
    Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD.
    Am J Hum Genet; 2009 Nov; 85(5):581-92. PubMed ID: 19853238
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  • 2. Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
    Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY, Marmorstein AD.
    Exp Eye Res; 2014 Apr; 121():74-85. PubMed ID: 24560797
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  • 4. Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
    Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.
    Am J Hum Genet; 2008 Jan; 82(1):19-31. PubMed ID: 18179881
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  • 6. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
    Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR.
    Mol Vis; 2011 Jan; 17():2272-82. PubMed ID: 21921978
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  • 7. 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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  • 8. The mutation spectrum of the bestrophin protein--functional implications.
    Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C.
    Hum Genet; 1999 May 01; 104(5):383-9. PubMed ID: 10394929
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  • 9. Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
    Johnson AA, Bachman LA, Gilles BJ, Cross SD, Stelzig KE, Resch ZT, Marmorstein LY, Pulido JS, Marmorstein AD.
    Invest Ophthalmol Vis Sci; 2015 Jul 01; 56(8):4619-30. PubMed ID: 26200502
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  • 10. Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
    Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, González-Duarte R, Navarro R.
    Invest Ophthalmol Vis Sci; 2012 Jan 31; 53(1):532-7. PubMed ID: 22199244
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  • 11. 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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  • 14. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
    Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
    Mol Vis; 2011 Jul 04; 17():1607-17. PubMed ID: 21738390
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  • 19. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
    Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT.
    Physiol Rev; 2008 Apr 04; 88(2):639-72. PubMed ID: 18391176
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  • 20. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
    Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI.
    Prog Retin Eye Res; 2009 May 04; 28(3):187-205. PubMed ID: 19375515
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