BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 33738427)

  • 1. Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies.
    Singh Grewal S; Smith JJ; Carr AF
    Ther Adv Ophthalmol; 2021; 13():2515841421997191. PubMed ID: 33738427
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
    Pasquay C; Wang LF; Lorenz B; Preising MN
    Ophthalmic Genet; 2015; 36(3):193-212. PubMed ID: 24328569
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Distinct expression requirements and rescue strategies for
    Zhao Q; Kong Y; Kittredge A; Li Y; Shen Y; Zhang Y; Tsang SH; Yang T
    Elife; 2021 Jun; 10():. PubMed ID: 34061021
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.
    Sinha D; Steyer B; Shahi PK; Mueller KP; Valiauga R; Edwards KL; Bacig C; Steltzer SS; Srinivasan S; Abdeen A; Cory E; Periyasamy V; Siahpirani AF; Stone EM; Tucker BA; Roy S; Pattnaik BR; Saha K; Gamm DM
    Am J Hum Genet; 2020 Aug; 107(2):278-292. PubMed ID: 32707085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
    Carter DA; Smart MJ; Letton WV; Ramsden CM; Nommiste B; Chen LL; Fynes K; Muthiah MN; Goh P; Lane A; Powner MB; Webster AR; da Cruz L; Moore AT; Coffey PJ; Carr AF
    Sci Rep; 2016 Sep; 6():33792. PubMed ID: 27653836
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.
    Amato A; Wongchaisuwat N; Lamborn A; Schmidt R; Everett L; Yang P; Pennesi ME
    Saudi J Ophthalmol; 2023; 37(4):287-295. PubMed ID: 38155675
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. [Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].
    Milenkovic A; Brandl C; Nachtigal AL; Kellner U; Weber BHF
    Klin Monbl Augenheilkd; 2020 Mar; 237(3):259-266. PubMed ID: 32120431
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Inhibition of Ca
    Cordes M; Bucichowski P; Alfaar AS; Tsang SH; Almedawar S; Reichhart N; Strauß O
    FASEB J; 2020 Mar; 34(3):4055-4071. PubMed ID: 31930599
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tadalafil Rescues the p.M325T Mutant of Best1 Chloride Channel.
    Elverson K; Warwicker J; Freeman S; Manson F
    Molecules; 2023 Apr; 28(8):. PubMed ID: 37110551
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.