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)

  • 1. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
    Guziewicz KE; Slavik J; Lindauer SJ; Aguirre GD; Zangerl B
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(7):4497-505. PubMed ID: 21498618
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).
    Zangerl B; Wickström K; Slavik J; Lindauer SJ; Ahonen S; Schelling C; Lohi H; Guziewicz KE; Aguirre GD
    Mol Vis; 2010 Dec; 16():2791-804. PubMed ID: 21197113
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
    Guziewicz KE; Zangerl B; Lindauer SJ; Mullins RF; Sandmeyer LS; Grahn BH; Stone EM; Acland GM; Aguirre GD
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):1959-67. PubMed ID: 17460247
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.
    Guziewicz KE; Zangerl B; Komáromy AM; Iwabe S; Chiodo VA; Boye SL; Hauswirth WW; Beltran WA; Aguirre GD
    PLoS One; 2013; 8(10):e75666. PubMed ID: 24143172
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.
    Gornik KR; Pirie CG; Duker JS; Boudrieau RJ
    Vet Ophthalmol; 2014 Sep; 17(5):368-72. PubMed ID: 23998685
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. 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]  

  • 12. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
    Kubota D; Gocho K; Akeo K; Kikuchi S; Sugahara M; Matsumoto CS; Shinoda K; Mizota A; Yamaki K; Takahashi H; Kameya S
    Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
    Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
    Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
    Lacassagne E; Dhuez A; Rigaudière F; Dansault A; Vêtu C; Bigot K; Vieira V; Puech B; Defoort-Dhellemmes S; Abitbol M
    Mol Vis; 2011 Jan; 17():309-22. PubMed ID: 21293734
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
    Burgess R; MacLaren RE; Davidson AE; Urquhart JE; Holder GE; Robson AG; Moore AT; Keefe RO; Black GC; Manson FD
    J Med Genet; 2009 Sep; 46(9):620-5. PubMed ID: 18611979
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Sharon D; Al-Hamdani S; Engelsberg K; Mizrahi-Meissonnier L; Obolensky A; Banin E; Sander B; Jensen H; Larsen M; Schatz P
    Am J Ophthalmol; 2014 Mar; 157(3):697-709.e1-2. PubMed ID: 24345323
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A; Menchini F; Manitto MP; Passerini I; Murro V; Torricelli F; Menchini U
    Mol Vis; 2011; 17():3078-87. PubMed ID: 22162627
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.