290 related articles for article (PubMed ID: 27193166)
1. 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; 25(13):2672-2680. PubMed ID: 27193166
[TBL] [Abstract][Full Text] [Related]
2. 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]
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; 23(13):. PubMed ID: 35806438
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.
Singh R; Shen W; Kuai D; Martin JM; Guo X; Smith MA; Perez ET; Phillips MJ; Simonett JM; Wallace KA; Verhoeven AD; Capowski EE; Zhang X; Yin Y; Halbach PJ; Fishman GA; Wright LS; Pattnaik BR; Gamm DM
Hum Mol Genet; 2013 Feb; 22(3):593-607. PubMed ID: 23139242
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.
Gao T; Tian C; Xu H; Tang X; Huang L; Zhao M
Graefes Arch Clin Exp Ophthalmol; 2020 Oct; 258(10):2251-2261. PubMed ID: 32507900
[TBL] [Abstract][Full Text] [Related]
8. Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.
Kittredge A; Zhang Y; Yang T
Methods Enzymol; 2021; 654():365-382. PubMed ID: 34120722
[TBL] [Abstract][Full Text] [Related]
9. Bestrophin1: A Gene that Causes Many Diseases.
Smith JJ; Nommiste B; Carr AF
Adv Exp Med Biol; 2019; 1185():419-423. PubMed ID: 31884648
[TBL] [Abstract][Full Text] [Related]
10. Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.
Strauß O; Reichhart N; Gomez NM; Müller C
Adv Exp Med Biol; 2016; 854():739-44. PubMed ID: 26427483
[TBL] [Abstract][Full Text] [Related]
11. Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca
Li Y; Zhang Y; Xu Y; Kittredge A; Ward N; Chen S; Tsang SH; Yang T
Elife; 2017 Oct; 6():. PubMed ID: 29063836
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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; 130(3):357-64. PubMed ID: 22084158
[TBL] [Abstract][Full Text] [Related]
14. Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.
Sparrow JR; Duncker T; Woods R; Delori FC
Adv Exp Med Biol; 2016; 854():285-90. PubMed ID: 26427423
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
Esumi N; Kachi S; Hackler L; Masuda T; Yang Z; Campochiaro PA; Zack DJ
Hum Mol Genet; 2009 Jan; 18(1):128-41. PubMed ID: 18849347
[TBL] [Abstract][Full Text] [Related]
17. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Milenkovic A; Brandl C; Milenkovic VM; Jendryke T; Sirianant L; Wanitchakool P; Zimmermann S; Reiff CM; Horling F; Schrewe H; Schreiber R; Kunzelmann K; Wetzel CH; Weber BH
Proc Natl Acad Sci U S A; 2015 May; 112(20):E2630-9. PubMed ID: 25941382
[TBL] [Abstract][Full Text] [Related]
18. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
Meunier I; Sénéchal A; Dhaenens CM; Arndt C; Puech B; Defoort-Dhellemmes S; Manes G; Chazalette D; Mazoir E; Bocquet B; Hamel CP
Ophthalmology; 2011 Jun; 118(6):1130-6. PubMed ID: 21269699
[TBL] [Abstract][Full Text] [Related]
19. Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
Doumanov JA; Zeitz C; Dominguez Gimenez P; Audo I; Krishna A; Alfano G; Diaz ML; Moskova-Doumanova V; Lancelot ME; Sahel JA; Nandrot EF; Bhattacharya SS
Int J Mol Sci; 2013 Jul; 14(7):15121-40. PubMed ID: 23880862
[TBL] [Abstract][Full Text] [Related]
20. 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; 17():2272-82. PubMed ID: 21921978
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
