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Similar articles for PubMed (Select 24704046)

1.

Unusual splice site mutations disrupt FANCA exon 8 definition.

Mattioli C, Pianigiani G, De Rocco D, Bianco AM, Cappelli E, Savoia A, Pagani F.

Biochim Biophys Acta. 2014 Jul;1842(7):1052-8. doi: 10.1016/j.bbadis.2014.03.014. Epub 2014 Apr 1.

PMID:
24704046
2.

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.

Zuccato E, Buratti E, Stuani C, Baralle FE, Pagani F.

J Biol Chem. 2004 Apr 23;279(17):16980-8. Epub 2004 Feb 13.

3.

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F.

Hum Mol Genet. 2012 Jun 1;21(11):2389-98. doi: 10.1093/hmg/dds045. Epub 2012 Feb 23.

4.

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F.

Hum Mutat. 2004 Sep;24(3):225-35.

PMID:
15300850
5.

Reconstitution of exon-bridging activity with purified U2AF and U1 snRNP components.

Cunningham TP, Hagan JP, Grabowski PJ.

Nucleic Acids Symp Ser. 1995;(33):218-9.

PMID:
8643375
6.

Combinatorial splicing of exon pairs by two-site binding of U1 small nuclear ribonucleoprotein particle.

Grabowski PJ, Nasim FU, Kuo HC, Burch R.

Mol Cell Biol. 1991 Dec;11(12):5919-28.

7.

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

Raponi M, Buratti E, Dassie E, Upadhyaya M, Baralle D.

FEBS J. 2009 Apr;276(7):2060-73. doi: 10.1111/j.1742-4658.2009.06941.x.

PMID:
19292874
8.

An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.

Arrisi-Mercado P, Romano M, Muro AF, Baralle FE.

J Biol Chem. 2004 Sep 17;279(38):39331-9. Epub 2004 Jul 7.

10.

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.

Eur J Haematol. 2004 May;72(5):330-5.

PMID:
15059067
11.

A novel intra-U1 snRNP cross-regulation mechanism: alternative splicing switch links U1C and U1-70K expression.

Rösel-Hillgärtner TD, Hung LH, Khrameeva E, Le Querrec P, Gelfand MS, Bindereif A.

PLoS Genet. 2013;9(10):e1003856. doi: 10.1371/journal.pgen.1003856. Epub 2013 Oct 17.

12.

Functional studies on the ATM intronic splicing processing element.

Lewandowska MA, Stuani C, Parvizpur A, Baralle FE, Pagani F.

Nucleic Acids Res. 2005 Jul 19;33(13):4007-15. Print 2005.

14.

HnRNP L-mediated regulation of mammalian alternative splicing by interference with splice site recognition.

Heiner M, Hui J, Schreiner S, Hung LH, Bindereif A.

RNA Biol. 2010 Jan-Feb;7(1):56-64. Epub 2010 Jan 21.

16.

HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease.

Ohe K, Mayeda A.

Mol Cell Biol. 2010 May;30(9):2220-8. doi: 10.1128/MCB.00114-10. Epub 2010 Mar 1.

17.

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.

O'Neill JP, Rogan PK, Cariello N, Nicklas JA.

Mutat Res. 1998 Nov;411(3):179-214. Review.

PMID:
9804951
18.

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes.

Buratti E, Baralle M, De Conti L, Baralle D, Romano M, Ayala YM, Baralle FE.

Nucleic Acids Res. 2004 Aug 6;32(14):4224-36. Print 2004.

19.

The RNA-binding protein TIA-1 is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5' splice site.

Del Gatto-Konczak F, Bourgeois CF, Le Guiner C, Kister L, Gesnel MC, Stévenin J, Breathnach R.

Mol Cell Biol. 2000 Sep;20(17):6287-99.

20.

An intron element modulating 5' splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1.

Chabot B, Blanchette M, Lapierre I, La Branche H.

Mol Cell Biol. 1997 Apr;17(4):1776-86.

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