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Items: 1 to 20 of 30

1.

Targeting Splicing in the Treatment of Human Disease.

Suñé-Pou M, Prieto-Sánchez S, Boyero-Corral S, Moreno-Castro C, El Yousfi Y, Suñé-Negre JM, Hernández-Munain C, Suñé C.

Genes (Basel). 2017 Feb 24;8(3). pii: E87. doi: 10.3390/genes8030087. Review.

2.

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.

Bougé AL, Murauer E, Beyne E, Miro J, Varilh J, Taulan M, Koenig M, Claustres M, Tuffery-Giraud S.

Sci Rep. 2017 Jan 3;7:39094. doi: 10.1038/srep39094.

3.

The incredible complexity of RNA splicing.

Robert C, Watson M.

Genome Biol. 2016 Dec 30;17(1):265. doi: 10.1186/s13059-016-1121-y.

4.
5.

Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy.

Brinkmeyer-Langford C, Balog-Alvarez C, Cai JJ, Davis BW, Kornegay JN.

BMC Genomics. 2016 Aug 22;17:665. doi: 10.1186/s12864-016-2948-z.

6.

RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish.

Frese KS, Meder B, Keller A, Just S, Haas J, Vogel B, Fischer S, Backes C, Matzas M, Köhler D, Benes V, Katus HA, Rottbauer W.

J Cell Sci. 2015 Aug 15;128(16):3030-40. doi: 10.1242/jcs.166850. Epub 2015 Jun 26.

7.

Alternative splicing as a biomarker and potential target for drug discovery.

Le KQ, Prabhakar BS, Hong WJ, Li LC.

Acta Pharmacol Sin. 2015 Oct;36(10):1212-8. doi: 10.1038/aps.2015.43. Epub 2015 Jun 15. Review.

8.

FUBP1: a new protagonist in splicing regulation of the DMD gene.

Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S.

Nucleic Acids Res. 2015 Feb 27;43(4):2378-89. doi: 10.1093/nar/gkv086. Epub 2015 Feb 6.

9.

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA.

J Hum Genet. 2015 Mar;60(3):151-5. doi: 10.1038/jhg.2014.112. Epub 2014 Dec 24.

10.

hnRNP A1: the Swiss army knife of gene expression.

Jean-Philippe J, Paz S, Caputi M.

Int J Mol Sci. 2013 Sep 16;14(9):18999-9024. doi: 10.3390/ijms140918999. Review.

11.

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P.

PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25.

12.

Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.

Grellscheid S, Dalgliesh C, Storbeck M, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ.

PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15.

13.

A syn-anti conformational difference allows SRSF2 to recognize guanines and cytosines equally well.

Daubner GM, Cléry A, Jayne S, Stevenin J, Allain FH.

EMBO J. 2012 Jan 4;31(1):162-74. doi: 10.1038/emboj.2011.367. Epub 2011 Oct 14.

14.

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium., Weiss RB.

Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426.

15.

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.

Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M.

Nat Commun. 2011;2:308. doi: 10.1038/ncomms1306.

16.

Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.

Forrest S, Meloni PL, Muntoni F, Kim J, Fletcher S, Wilton SD.

Neuromuscul Disord. 2010 Dec;20(12):810-6. doi: 10.1016/j.nmd.2010.07.276.

17.

Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.

O'Leary DA, Sharif O, Anderson P, Tu B, Welch G, Zhou Y, Caldwell JS, Engels IH, Brinker A.

PLoS One. 2009 Dec 17;4(12):e8348. doi: 10.1371/journal.pone.0008348.

18.

Antagonistic factors control the unproductive splicing of SC35 terminal intron.

Dreumont N, Hardy S, Behm-Ansmant I, Kister L, Branlant C, Stévenin J, Bourgeois CF.

Nucleic Acids Res. 2010 Mar;38(4):1353-66. doi: 10.1093/nar/gkp1086. Epub 2009 Dec 3.

19.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium., Weiss RB.

Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.

20.

RNA processing and mRNA surveillance in monogenic diabetes.

Locke JM, Harries LW.

Gene Regul Syst Bio. 2008 May 21;2:203-12.

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