BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 32120431)

  • 1. [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]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. 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]  

  • 6. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
    Crowley C; Paterson R; Lamey T; McLaren T; De Roach J; Chelva E; Khan J
    Doc Ophthalmol; 2014 Aug; 129(1):57-63. PubMed ID: 24859690
    [TBL] [Abstract][Full Text] [Related]  

  • 7. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S; Li Z; Cheng W; Ma M; Qi R; Rui X; Ren Y; Sheng X; Rong W
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2095. PubMed ID: 36378562
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional roles of bestrophins in ocular epithelia.
    Marmorstein AD; Cross HE; Peachey NS
    Prog Retin Eye Res; 2009 May; 28(3):206-26. PubMed ID: 19398034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
    Bianco L; Arrigo A; Antropoli A; Del Fabbro S; Mauro L; Pina A; Bandello F; Battaglia Parodi M
    Ophthalmol Retina; 2024 Mar; 8(3):288-297. PubMed ID: 37717827
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
    Haque OI; Chandrasekaran A; Nabi F; Ahmad O; Marques JP; Ahmad T
    BMC Ophthalmol; 2022 Dec; 22(1):493. PubMed ID: 36527004
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.
    Hemptinne C; Willermain F; de Jong C; Postolache L; Postelmans L
    Ophthalmic Genet; 2023 Jun; 44(3):318-320. PubMed ID: 36062537
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Novel
    Soto-Sierra M; Morillo-Sánchez MJ; Martín-Sánchez M; Ramos-Jiménez M; López-Domínguez M; Ponte-Zuñiga B; Antiñolo G; Rodríguez-de-la-Rúa E
    Eur J Ophthalmol; 2022 Sep; 32(5):NP77-NP81. PubMed ID: 33866859
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.