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Items: 1 to 20 of 23

1.

Targeting protein translation, RNA splicing, and degradation by morpholino-based conjugates in Plasmodium falciparum.

Garg A, Wesolowski D, Alonso D, Deitsch KW, Ben Mamoun C, Altman S.

Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):11935-40. doi: 10.1073/pnas.1515864112. Epub 2015 Sep 8.

2.

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

Breveglieri G, Mancini I, Bianchi N, Lampronti I, Salvatori F, Fabbri E, Zuccato C, Cosenza LC, Montagner G, Borgatti M, Altruda F, Fagoonee S, Carandina G, Rubini M, Aiello V, Breda L, Rivella S, Gambari R, Finotti A.

Biomed Res Int. 2015;2015:687635. doi: 10.1155/2015/687635. Epub 2015 May 4.

3.

MicroRNA-mediated repression of nonsense mRNAs.

Zhao Y, Lin J, Xu B, Hu S, Zhang X, Wu L.

Elife. 2014 Aug 8;3:e03032. doi: 10.7554/eLife.03032.

4.

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T; kConFab., Dowty JG, Hopper JL, Winship I, Goldgar DE, Southey MC.

Breast Cancer Res. 2013 Feb 28;15(1):R17. doi: 10.1186/bcr3392.

5.

Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.

Durand C, Roeth R, Dweep H, Vlatkovic I, Decker E, Schneider KU, Rappold G.

PLoS One. 2011 Mar 23;6(3):e18115. doi: 10.1371/journal.pone.0018115.

6.

Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

Neu-Yilik G, Amthor B, Gehring NH, Bahri S, Paidassi H, Hentze MW, Kulozik AE.

RNA. 2011 May;17(5):843-54. doi: 10.1261/rna.2401811. Epub 2011 Mar 9.

7.

Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype.

Peixeiro I, Silva AL, Romão L.

Haematologica. 2011 Jun;96(6):905-13. doi: 10.3324/haematol.2010.039206. Epub 2011 Feb 28. Review.

8.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK.

Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.

9.

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.

Platè M, Duga S, Baronciani L, La Marca S, Rubini V, Mannucci PM, Federici AB, Asselta R.

Haematologica. 2010 Jan;95(1):172-4. doi: 10.3324/haematol.2009.012336. Epub 2009 Sep 22. No abstract available.

10.

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

Sanz J, von Känel T, Schneider M, Steiner B, Schaller A, Gallati S.

Eur J Hum Genet. 2010 Feb;18(2):212-7. doi: 10.1038/ejhg.2009.140. Epub 2009 Sep 2.

11.

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways.

Ivanov PV, Gehring NH, Kunz JB, Hentze MW, Kulozik AE.

EMBO J. 2008 Mar 5;27(5):736-47. doi: 10.1038/emboj.2008.17. Epub 2008 Feb 7.

12.
13.

Using 5'-PTMs to repair mutant beta-globin transcripts.

Kierlin-Duncan MN, Sullenger BA.

RNA. 2007 Aug;13(8):1317-27. Epub 2007 Jun 7.

14.

Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors.

You KT, Li LS, Kim NG, Kang HJ, Koh KH, Chwae YJ, Kim KM, Kim YK, Park SM, Jang SK, Kim H.

PLoS Biol. 2007 May;5(5):e109.

15.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

16.
17.

Polyamine-regulated unproductive splicing and translation of spermidine/spermine N1-acetyltransferase.

Hyvönen MT, Uimari A, Keinänen TA, Heikkinen S, Pellinen R, Wahlfors T, Korhonen A, Närvänen A, Wahlfors J, Alhonen L, Jänne J.

RNA. 2006 Aug;12(8):1569-82. Epub 2006 Jun 29.

18.

The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).

Stockklausner C, Breit S, Neu-Yilik G, Echner N, Hentze MW, Kulozik AE, Gehring NH.

Nucleic Acids Res. 2006 May 5;34(8):2355-63. Print 2006.

19.

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J, Christensen MB, Vorechovský I.

Nucleic Acids Res. 2005 Sep 1;33(15):4882-98. Print 2005.

20.

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