BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 38182646)

  • 1. QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.
    Kaltak M; de Bruijn P; van Leeuwen W; Platenburg G; Cremers FPM; Collin RWJ; Swildens J
    Sci Rep; 2024 Jan; 14(1):684. PubMed ID: 38182646
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant
    Kaltak M; de Bruijn P; Piccolo D; Lee SE; Dulla K; Hoogenboezem T; Beumer W; Webster AR; Collin RWJ; Cheetham ME; Platenburg G; Swildens J
    Mol Ther Nucleic Acids; 2023 Mar; 31():674-688. PubMed ID: 36910710
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in
    Tomkiewicz TZ; Suárez-Herrera N; Cremers FPM; Collin RWJ; Garanto A
    Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33924840
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
    Kaltak M; Blanco-Garavito R; Molday LL; Dhaenens CM; Souied EE; Platenburg G; Swildens J; Molday RS; Cremers FPM
    J Transl Med; 2023 Aug; 21(1):546. PubMed ID: 37587475
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
    Jonsson F; Westin IM; Österman L; Sandgren O; Burstedt M; Holmberg M; Golovleva I
    Acta Ophthalmol; 2018 Nov; 96(7):737-743. PubMed ID: 29461686
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic
    Garanto A; Duijkers L; Tomkiewicz TZ; Collin RWJ
    Genes (Basel); 2019 Jun; 10(6):. PubMed ID: 31197102
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
    Sangermano R; Bax NM; Bauwens M; van den Born LI; De Baere E; Garanto A; Collin RW; Goercharn-Ramlal AS; den Engelsman-van Dijk AH; Rohrschneider K; Hoyng CB; Cremers FP; Albert S
    Ophthalmology; 2016 Jun; 123(6):1375-85. PubMed ID: 26976702
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
    Albert S; Garanto A; Sangermano R; Khan M; Bax NM; Hoyng CB; Zernant J; Lee W; Allikmets R; Collin RWJ; Cremers FPM
    Am J Hum Genet; 2018 Apr; 102(4):517-527. PubMed ID: 29526278
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in
    Corradi Z; Hitti-Malin RJ; de Rooij LA; Garanto A; Collin RWJ; Cremers FPM
    Nucleic Acid Ther; 2024; 34(3):125-133. PubMed ID: 38800942
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
    Suárez-Herrera N; Riswick IB; Vázquez-Domínguez I; Duijkers L; Karjosukarso DW; Piccolo D; Bauwens M; De Baere E; Cheetham ME; Garanto A; Collin RWJ
    Mol Ther; 2024 Mar; 32(3):837-851. PubMed ID: 38243599
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Understanding and Rescuing the Splicing Defect Caused by the Frequent
    Suárez-Herrera N; Garanto A; Collin RWJ
    Nucleic Acid Ther; 2024 Apr; 34(2):73-82. PubMed ID: 38466963
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
    Khan M; Cornelis SS; Khan MI; Elmelik D; Manders E; Bakker S; Derks R; Neveling K; van de Vorst M; Gilissen C; Meunier I; Defoort S; Puech B; Devos A; Schulz HL; Stöhr H; Grassmann F; Weber BHF; Dhaenens CM; Cremers FPM
    Hum Mutat; 2019 Oct; 40(10):1749-1759. PubMed ID: 31212395
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
    Huang D; Thompson JA; Chen SC; Adams A; Pitout I; Lima A; Zhang D; Jeffery RCH; Attia MS; McLaren TL; Lamey TM; De Roach JN; McLenachan S; Aung-Htut MT; Fletcher S; Wilton SD; Chen FK
    Exp Eye Res; 2022 Dec; 225():109276. PubMed ID: 36209838
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
    Sangermano R; Garanto A; Khan M; Runhart EH; Bauwens M; Bax NM; van den Born LI; Khan MI; Cornelis SS; Verheij JBGM; Pott JR; Thiadens AAHJ; Klaver CCW; Puech B; Meunier I; Naessens S; Arno G; Fakin A; Carss KJ; Raymond FL; Webster AR; Dhaenens CM; Stöhr H; Grassmann F; Weber BHF; Hoyng CB; De Baere E; Albert S; Collin RWJ; Cremers FPM
    Genet Med; 2019 Aug; 21(8):1751-1760. PubMed ID: 30643219
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
    Hu FY; Gao FJ; Li JK; Xu P; Wang DD; Zhang SH; Wu JH
    BMC Med Genet; 2020 Oct; 21(1):213. PubMed ID: 33129279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
    Green JS; O'Rielly DD; Pater JA; Houston J; Rajabi H; Galutira D; Benteau T; Sheaves A; Abdelfatah N; Bautista D; Whelan J; Young TL
    Eur J Hum Genet; 2020 Jul; 28(7):925-937. PubMed ID: 32467599
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
    Kaltak M; Corradi Z; Collin RWJ; Swildens J; Cremers FPM
    Hum Mol Genet; 2023 Oct; 32(21):3078-3089. PubMed ID: 37555651
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
    Huang D; Thompson JA; Charng J; Chelva E; McLenachan S; Chen SC; Zhang D; McLaren TL; Lamey TM; Constable IJ; De Roach JN; Aung-Htut MT; Adams A; Fletcher S; Wilton SD; Chen FK
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1259. PubMed ID: 32627976
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
    Aukrust I; Jansson RW; Bredrup C; Rusaas HE; Berland S; Jørgensen A; Haug MG; Rødahl E; Houge G; Knappskog PM
    Acta Ophthalmol; 2017 May; 95(3):240-246. PubMed ID: 27775217
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular Analysis of the
    Ścieżyńska A; Soszyńska M; Komorowski M; Podgórska A; Krześniak N; Nogowska A; Smolińska M; Szulborski K; Szaflik JP; Noszczyk B; Ołdak M; Malejczyk J
    Int J Mol Sci; 2020 May; 21(10):. PubMed ID: 32413971
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.