126 related articles for article (PubMed ID: 38800942)
21. ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Corradi Z; Salameh M; Khan M; Héon E; Mishra K; Hitti-Malin RJ; AlSwaiti Y; Aslanian A; Banin E; Brooks BP; Zein WM; Hufnagel RB; Roosing S; Dhaenens CM; Sharon D; Cremers FPM; AlTalbishi A
Invest Ophthalmol Vis Sci; 2022 Apr; 63(4):20. PubMed ID: 35475888
[TBL] [Abstract][Full Text] [Related]
22. Designing Effective Antisense Oligonucleotides for Exon Skipping.
Shimo T; Maruyama R; Yokota T
Methods Mol Biol; 2018; 1687():143-155. PubMed ID: 29067661
[TBL] [Abstract][Full Text] [Related]
23. Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Fadaie Z; Khan M; Del Pozo-Valero M; Cornelis SS; Ayuso C; Cremers FPM; Roosing S; The Abca Study Group
Hum Mutat; 2019 Dec; 40(12):2365-2376. PubMed ID: 31397521
[TBL] [Abstract][Full Text] [Related]
24. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M; Cornelis SS; Pozo-Valero MD; Whelan L; Runhart EH; Mishra K; Bults F; AlSwaiti Y; AlTalbishi A; De Baere E; Banfi S; Banin E; Bauwens M; Ben-Yosef T; Boon CJF; van den Born LI; Defoort S; Devos A; Dockery A; Dudakova L; Fakin A; Farrar GJ; Sallum JMF; Fujinami K; Gilissen C; Glavač D; Gorin MB; Greenberg J; Hayashi T; Hettinga YM; Hoischen A; Hoyng CB; Hufendiek K; Jägle H; Kamakari S; Karali M; Kellner U; Klaver CCW; Kousal B; Lamey TM; MacDonald IM; Matynia A; McLaren TL; Mena MD; Meunier I; Miller R; Newman H; Ntozini B; Oldak M; Pieterse M; Podhajcer OL; Puech B; Ramesar R; Rüther K; Salameh M; Salles MV; Sharon D; Simonelli F; Spital G; Steehouwer M; Szaflik JP; Thompson JA; Thuillier C; Tracewska AM; van Zweeden M; Vincent AL; Zanlonghi X; Liskova P; Stöhr H; Roach JN; Ayuso C; Roberts L; Weber BHF; Dhaenens CM; Cremers FPM
Genet Med; 2020 Jul; 22(7):1235-1246. PubMed ID: 32307445
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.
Garanto A; van der Velde-Visser SD; Cremers FPM; Collin RWJ
Adv Exp Med Biol; 2018; 1074():83-89. PubMed ID: 29721931
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M; Arno G; Fakin A; Parfitt DA; Dhooge PPA; Albert S; Bax NM; Duijkers L; Niblock M; Hau KL; Bloch E; Schiff ER; Piccolo D; Hogden MC; Hoyng CB; Webster AR; Cremers FPM; Cheetham ME; Garanto A; Collin RWJ
Mol Ther Nucleic Acids; 2020 Sep; 21():412-427. PubMed ID: 32653833
[TBL] [Abstract][Full Text] [Related]
29. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA; Uyan Ö; McKenna-Yasek D; Nallamilli BRR; Kergourlay V; Bartoli M; Levy N; Hudson J; Evangelista T; Lochmuller H; Krahn M; Rufibach L; Hegde M; Brown RH
Ann Clin Transl Neurol; 2019 Apr; 6(4):642-654. PubMed ID: 31019989
[TBL] [Abstract][Full Text] [Related]
30. Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms.
Aartsma-Rus A; van Vliet L; Hirschi M; Janson AA; Heemskerk H; de Winter CL; de Kimpe S; van Deutekom JC; 't Hoen PA; van Ommen GJ
Mol Ther; 2009 Mar; 17(3):548-53. PubMed ID: 18813282
[TBL] [Abstract][Full Text] [Related]
31. Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.
Martínez-Pizarro A; Leal F; Holm LL; Doktor TK; Petersen USS; Bueno M; Thöny B; Pérez B; Andresen BS; Desviat LR
Nucleic Acid Ther; 2022 Oct; 32(5):378-390. PubMed ID: 35833796
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts.
Maruyama R; Touznik A; Yokota T
J Vis Exp; 2018 May; (135):. PubMed ID: 29806836
[TBL] [Abstract][Full Text] [Related]
35. Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides.
Aartsma-Rus A; Janson AA; Heemskerk JA; De Winter CL; Van Ommen GJ; Van Deutekom JC
Ann N Y Acad Sci; 2006 Oct; 1082():74-6. PubMed ID: 17145928
[TBL] [Abstract][Full Text] [Related]
36. Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.
Rimessi P; Fabris M; Bovolenta M; Bassi E; Falzarano S; Gualandi F; Rapezzi C; Coccolo F; Perrone D; Medici A; Ferlini A
Hum Gene Ther; 2010 Sep; 21(9):1137-46. PubMed ID: 20486769
[TBL] [Abstract][Full Text] [Related]
37. In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Garanto A; Chung DC; Duijkers L; Corral-Serrano JC; Messchaert M; Xiao R; Bennett J; Vandenberghe LH; Collin RW
Hum Mol Genet; 2016 Jun; 25(12):2552-2563. PubMed ID: 27106101
[TBL] [Abstract][Full Text] [Related]
38. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL; Grassmann F; Kellner U; Spital G; Rüther K; Jägle H; Hufendiek K; Rating P; Huchzermeyer C; Baier MJ; Weber BH; Stöhr H
Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):394-403. PubMed ID: 28118664
[TBL] [Abstract][Full Text] [Related]
39. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
Maruyama R; Yokota T
Methods Mol Biol; 2018; 1828():79-90. PubMed ID: 30171536
[TBL] [Abstract][Full Text] [Related]
40. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM; Sangermano R; Roosing S; Thiadens AA; Hoefsloot LH; van den Born LI; Phan M; Klevering BJ; Westeneng-van Haaften C; Braun TA; Zonneveld-Vrieling MN; de Wijs I; Mutlu M; Stone EM; den Hollander AI; Klaver CC; Hoyng CB; Cremers FP
Hum Mutat; 2015 Jan; 36(1):43-7. PubMed ID: 25363634
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]