298 related articles for article (PubMed ID: 26200502)
1. 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; 56(8):4619-30. PubMed ID: 26200502
[TBL] [Abstract][Full Text] [Related]
2. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
Lee CS; Jun I; Choi SI; Lee JH; Lee MG; Lee SC; Kim EK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8141-50. PubMed ID: 26720466
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Liu J; Taylor RL; Baines RA; Swanton L; Freeman S; Corneo B; Patel A; Marmorstein A; Knudsen T; Black GC; Manson F
Invest Ophthalmol Vis Sci; 2020 May; 61(5):28. PubMed ID: 32421148
[TBL] [Abstract][Full Text] [Related]
5. Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
Marmorstein AD; Kinnick TR; Stanton JB; Johnson AA; Lynch RM; Marmorstein LY
Mol Vis; 2015; 21():347-59. PubMed ID: 25878489
[TBL] [Abstract][Full Text] [Related]
6. 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; 8(1):4487. PubMed ID: 29540715
[TBL] [Abstract][Full Text] [Related]
7. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
Wivestad Jansson R; Berland S; Bredrup C; Austeng D; Andréasson S; Wittström E
Ophthalmic Genet; 2016 Jun; 37(2):183-93. PubMed ID: 26333019
[TBL] [Abstract][Full Text] [Related]
8. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Davidson AE; Millar ID; Burgess-Mullan R; Maher GJ; Urquhart JE; Brown PD; Black GC; Manson FD
Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3730-6. PubMed ID: 21330666
[TBL] [Abstract][Full Text] [Related]
9. Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy.
Lee JH; Oh JO; Lee CS
Yonsei Med J; 2020 Sep; 61(9):816-825. PubMed ID: 32882766
[TBL] [Abstract][Full Text] [Related]
10. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
[TBL] [Abstract][Full Text] [Related]
11. Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL; Milenkovic A; Brandl C; Schulz HL; Duerr LMJ; Lang GE; Reiff C; Herrmann P; Kellner U; Weber BHF
Int J Mol Sci; 2020 Feb; 21(5):. PubMed ID: 32111077
[TBL] [Abstract][Full Text] [Related]
12. 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; 53(1):532-7. PubMed ID: 22199244
[TBL] [Abstract][Full Text] [Related]
13. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D; Gocho K; Akeo K; Kikuchi S; Sugahara M; Matsumoto CS; Shinoda K; Mizota A; Yamaki K; Takahashi H; Kameya S
Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
[TBL] [Abstract][Full Text] [Related]
14. 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; 22(23):4688-97. PubMed ID: 23825107
[TBL] [Abstract][Full Text] [Related]
15. New best1 mutations in autosomal recessive bestrophinopathy.
Fung AT; Yzer S; Goldberg N; Wang H; Nissen M; Giovannini A; Merriam JE; Bukanova EN; Cai C; Yannuzzi LA; Tsang SH; Allikmets R
Retina; 2015 Apr; 35(4):773-82. PubMed ID: 25545482
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ; Qi YH; Hu FY; Wang DD; Xu P; Guo JL; Li JK; Zhang YJ; Li W; Chen F; Xu GZ; Liu W; Chang Q; Wu JH
Br J Ophthalmol; 2020 Jun; 104(6):846-851. PubMed ID: 31519547
[TBL] [Abstract][Full Text] [Related]
18. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
19. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
Luo J; Lin M; Guo X; Xiao X; Li J; Hu H; Xiao H; Xu X; Zhong Y; Long S; Luo G; Mi L; Chen X; Fang L; Wei W; Zhang Q; Liu X
Acta Ophthalmol; 2019 May; 97(3):247-259. PubMed ID: 30593719
[TBL] [Abstract][Full Text] [Related]
20. 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; 23(13):. PubMed ID: 35806438
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]