These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 21498618)

  • 21. A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.
    Davidson AE; Sergouniotis PI; Burgess-Mullan R; Hart-Holden N; Low S; Foster PJ; Manson FD; Black GC; Webster AR
    Mol Vis; 2010 Dec; 16():2916-22. PubMed ID: 21203346
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
    Chen CJ; Kaufman S; Packo K; Stöhr H; Weber BH; Goldberg MF
    Ophthalmic Genet; 2016; 37(1):102-8. PubMed ID: 26849243
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30.
    Guziewicz KE; Cideciyan AV; Beltran WA; Komáromy AM; Dufour VL; Swider M; Iwabe S; Sumaroka A; Kendrick BT; Ruthel G; Chiodo VA; Héon E; Hauswirth WW; Jacobson SG; Aguirre GD
    Proc Natl Acad Sci U S A; 2018 Mar; 115(12):E2839-E2848. PubMed ID: 29507198
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
    Cohn AC; Turnbull C; Ruddle JB; Guymer RH; Kearns LS; Staffieri S; Daggett HT; Hewitt AW; Mackey DA
    Eye (Lond); 2011 Feb; 25(2):208-17. PubMed ID: 21109774
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Canine multifocal retinopathy in the Australian Shepherd: a case report.
    Hoffmann I; Guziewicz KE; Zangerl B; Aguirre GD; Mardin CY
    Vet Ophthalmol; 2012 Sep; 15 Suppl 2(0 2):134-8. PubMed ID: 22432598
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
    Boon CJ; Klevering BJ; Leroy BP; Hoyng CB; Keunen JE; den Hollander AI
    Prog Retin Eye Res; 2009 May; 28(3):187-205. PubMed ID: 19375515
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
    Sohn EH; Francis PJ; Duncan JL; Weleber RG; Saperstein DA; Farrell DF; Stone EM
    Arch Ophthalmol; 2009 Jul; 127(7):913-20. PubMed ID: 19597114
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies.
    Guziewicz KE; McTish E; Dufour VL; Zorych K; Dhingra A; Boesze-Battaglia K; Aguirre GD
    Adv Exp Med Biol; 2018; 1074():309-315. PubMed ID: 29721958
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.