250 related articles for article (PubMed ID: 29668979)
1. BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
Milenkovic A; Milenkovic VM; Wetzel CH; Weber BHF
Hum Mol Genet; 2018 May; 27(9):1630-1641. PubMed ID: 29668979
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.
Uggenti C; Briant K; Streit AK; Thomson S; Koay YH; Baines RA; Swanton E; Manson FD
Dis Model Mech; 2016 Nov; 9(11):1317-1328. PubMed ID: 27519691
[TBL] [Abstract][Full Text] [Related]
7. Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.
Ye P; Xu J; Luo Y; Su Z; Yao K
BMC Med Genet; 2020 Jan; 21(1):16. PubMed ID: 31969119
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel Missense Mutations in
Jaffal L; Joumaa WH; Assi A; Helou C; Condroyer C; El Dor M; Cherfan G; Zeitz C; Audo I; Zibara K; El Shamieh S
Genes (Basel); 2019 Feb; 10(2):. PubMed ID: 30781664
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA; Zein WM; Cukras CA; Sen HN; Maldonado RS; Huryn LA; Hufnagel RB
Invest Ophthalmol Vis Sci; 2021 May; 62(6):22. PubMed ID: 34015078
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Tian R; Yang G; Wang J; Chen Y
Mol Vis; 2014; 20():1594-604. PubMed ID: 25489231
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Bestrophin 1 and retinal disease.
Johnson AA; Guziewicz KE; Lee CJ; Kalathur RC; Pulido JS; Marmorstein LY; Marmorstein AD
Prog Retin Eye Res; 2017 May; 58():45-69. PubMed ID: 28153808
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Nguyen TT; Poornachandra B; Verma A; Mehta RA; Phalke S; Battu R; Ramprasad VL; Peterson AS; Ghosh A; Seshagiri S
Sci Rep; 2018 Jul; 8(1):10176. PubMed ID: 29976937
[TBL] [Abstract][Full Text] [Related]
18. 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; 58(9):3366-3375. PubMed ID: 28687848
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the
Hufendiek K; Hufendiek K; Jägle H; Stöhr H; Book M; Spital G; Rustambayova G; Framme C; Weber BHF; Renner AB; Kellner U
Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33302512
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]