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22. Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the Xie Z; Tang L; Xie Z; Sun C; Shuai H; Zhou C; Liu Y; Yu M; Zheng Y; Meng L; Zhang W; Leal SM; Wang Z; Schrauwen I; Yuan Y Genes (Basel); 2020 Oct; 11(10):. PubMed ID: 33050418 [TBL] [Abstract][Full Text] [Related]
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25. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Tuffery-Giraud S; Saquet C; Chambert S; Claustres M Hum Mutat; 2003 Jun; 21(6):608-14. PubMed ID: 12754707 [TBL] [Abstract][Full Text] [Related]
26. Background splicing as a predictor of aberrant splicing in genetic disease. D A; Y L; R S; H D; E B; Rm W; I V; L C; N J D RNA Biol; 2022; 19(1):256-265. PubMed ID: 35188075 [TBL] [Abstract][Full Text] [Related]
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28. A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy. Xie Z; Sun C; Liu C; Lu Y; Chen B; Wu R; Liu Y; Liu R; Peng Q; Deng J; Meng L; Wang Z; Zhang W; Yuan Y Neuromuscul Disord; 2024 Feb; 35():8-12. PubMed ID: 38194733 [TBL] [Abstract][Full Text] [Related]
30. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. Holla ØL; Nakken S; Mattingsdal M; Ranheim T; Berge KE; Defesche JC; Leren TP Mol Genet Metab; 2009 Apr; 96(4):245-52. PubMed ID: 19208450 [TBL] [Abstract][Full Text] [Related]
31. Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis. Nieminen TT; Pavicic W; Porkka N; Kankainen M; Järvinen HJ; Lepistö A; Peltomäki P Oncotarget; 2016 Oct; 7(43):70685-70698. PubMed ID: 27683109 [TBL] [Abstract][Full Text] [Related]
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33. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. Dhir A; Buratti E FEBS J; 2010 Feb; 277(4):841-55. PubMed ID: 20082636 [TBL] [Abstract][Full Text] [Related]
34. 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]
35. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Mayer AK; Rohrschneider K; Strom TM; Glöckle N; Kohl S; Wissinger B; Weisschuh N Eur J Hum Genet; 2016 Mar; 24(3):459-62. PubMed ID: 26153215 [TBL] [Abstract][Full Text] [Related]
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37. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in Tamayo A; Núñez-Moreno G; Ruiz C; Plaisancie J; Damian A; Moya J; Chassaing N; Calvas P; Ayuso C; Minguez P; Corton M Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36675087 [TBL] [Abstract][Full Text] [Related]
38. Exonization of transposed elements: A challenge and opportunity for evolution. Schmitz J; Brosius J Biochimie; 2011 Nov; 93(11):1928-34. PubMed ID: 21787833 [TBL] [Abstract][Full Text] [Related]
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40. Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Palhais B; Præstegaard VS; Sabaratnam R; Doktor TK; Lutz S; Burda P; Suormala T; Baumgartner M; Fowler B; Bruun GH; Andersen HS; Kožich V; Andresen BS Nucleic Acids Res; 2015 May; 43(9):4627-39. PubMed ID: 25878036 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]