BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 30628748)

  • 21. Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
    Jauregui R; Park KS; Tsang SH
    Ophthalmic Genet; 2018 Aug; 39(4):544-549. PubMed ID: 29947567
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
    Samardzija M; Barben M; Geiger P; Grimm C
    Adv Exp Med Biol; 2016; 854():341-6. PubMed ID: 26427430
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.
    Tucker BA; Cranston CM; Anfinson KA; Shrestha S; Streb LM; Leon A; Mullins RF; Stone EM
    Transl Res; 2015 Dec; 166(6):740-749.e1. PubMed ID: 26364624
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
    Wu J; Sun Z; Zhang DW; Liu HL; Li T; Zhang S; Wu J
    PeerJ; 2023; 11():e15702. PubMed ID: 37547722
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
    Jakobsson C; Othman IS; Munier FL; Schorderet DF; Abouzeid H
    Klin Monbl Augenheilkd; 2014 Apr; 231(4):405-10. PubMed ID: 24771178
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
    Wu W; Takahashi Y; Shin HY; Ma X; Moiseyev G; Ma JX
    Proc Natl Acad Sci U S A; 2022 Mar; 119(11):e2115202119. PubMed ID: 35271391
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Protection of cone photoreceptor M-opsin degradation with 9-cis-β-carotene-rich alga Dunaliella bardawil in Rpe65(-/-) mouse retinal explant culture.
    Ozaki T; Nakazawa M; Kudo T; Hirano S; Suzuki K; Ishiguro S
    Curr Eye Res; 2014 Dec; 39(12):1221-31. PubMed ID: 25006880
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
    Bemelmans AP; Kostic C; Crippa SV; Hauswirth WW; Lem J; Munier FL; Seeliger MW; Wenzel A; Arsenijevic Y
    PLoS Med; 2006 Oct; 3(10):e347. PubMed ID: 17032058
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA; Gyürüs P; Fleischer LL; Bingham EL; McHenry CL; Apfelstedt-Sylla E; Zrenner E; Lorenz B; Richards JE; Jacobson SG; Sieving PA; Gal A
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4293-9. PubMed ID: 11095629
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
    Ward R; Sundaramurthi H; Di Giacomo V; Kennedy BN
    Front Cell Dev Biol; 2018; 6():37. PubMed ID: 29696141
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.
    Berger A; Lorain S; Joséphine C; Desrosiers M; Peccate C; Voit T; Garcia L; Sahel JA; Bemelmans AP
    Mol Ther; 2015 May; 23(5):918-930. PubMed ID: 25619725
    [TBL] [Abstract][Full Text] [Related]  

  • 32. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
    Samardzija M; von Lintig J; Tanimoto N; Oberhauser V; Thiersch M; Remé CE; Seeliger M; Grimm C; Wenzel A
    Hum Mol Genet; 2008 Jan; 17(2):281-92. PubMed ID: 17933883
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Pathogenicity reclassification of the
    Bjeloš M; Bušić M; Ćurić A; Bosnar D; Šarić B; Marković L; Kuzmanović Elabjer B; Rak B
    Ophthalmic Genet; 2023 Jun; 44(3):276-280. PubMed ID: 35904185
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
    Astuti GD; Bertelsen M; Preising MN; Ajmal M; Lorenz B; Faradz SM; Qamar R; Collin RW; Rosenberg T; Cremers FP
    Eur J Hum Genet; 2016 Jul; 24(7):1071-9. PubMed ID: 26626312
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
    Hernan I; Gamundi MJ; Planas E; Borràs E; Maseras M; Carballo M
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3723-9. PubMed ID: 21357407
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
    Chung DC; Bertelsen M; Lorenz B; Pennesi ME; Leroy BP; Hamel CP; Pierce E; Sallum J; Larsen M; Stieger K; Preising M; Weleber R; Yang P; Place E; Liu E; Schaefer G; DiStefano-Pappas J; Elci OU; McCague S; Wellman JA; High KA; Reape KZ
    Am J Ophthalmol; 2019 Mar; 199():58-70. PubMed ID: 30268864
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The clinical features of retinal disease due to a dominant mutation in RPE65.
    Hull S; Mukherjee R; Holder GE; Moore AT; Webster AR
    Mol Vis; 2016; 22():626-35. PubMed ID: 27307694
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
    Gu SM; Thompson DA; Srikumari CR; Lorenz B; Finckh U; Nicoletti A; Murthy KR; Rathmann M; Kumaramanickavel G; Denton MJ; Gal A
    Nat Genet; 1997 Oct; 17(2):194-7. PubMed ID: 9326941
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Complementation test of Rpe65 knockout and tvrm148.
    Wright CB; Chrenek MA; Foster SL; Duncan T; Redmond TM; Pardue MT; Boatright JH; Nickerson JM
    Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):5111-22. PubMed ID: 23778877
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Frequency of
    Kahraman NS; Öner A; Özkul Y; Dündar M
    Turk J Ophthalmol; 2022 Aug; 52(4):270-275. PubMed ID: 36017377
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.