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Results: 1 to 20 of 266

1.

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX, Cartegni L, Zhang MQ, Krainer AR.

Nat Genet. 2001 Jan;27(1):55-8.

PMID:
11137998
[PubMed - indexed for MEDLINE]
2.

Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Cartegni L, Chew SL, Krainer AR.

Nat Rev Genet. 2002 Apr;3(4):285-98. Review.

PMID:
11967553
[PubMed - indexed for MEDLINE]
3.

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.

Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S.

Hum Mol Genet. 2002 Nov 1;11(23):2805-14.

PMID:
12393792
[PubMed - indexed for MEDLINE]
Free Article
5.

The power of point mutations.

Maquat LE.

Nat Genet. 2001 Jan;27(1):5-6. No abstract available.

PMID:
11137984
[PubMed - indexed for MEDLINE]
6.

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.

Xu DQ, Mattox W.

Hum Mol Genet. 2006 Jan 15;15(2):329-36. Epub 2005 Dec 15.

PMID:
16357104
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.

Hum Mutat. 2004 Dec;24(6):491-501.

PMID:
15523642
[PubMed - indexed for MEDLINE]
8.

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.

Am J Hum Genet. 2007 Mar;80(3):416-32. Epub 2007 Jan 18. Erratum in: Am J Hum Genet. 2007 Apr;80(4):816.

PMID:
17273963
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse.

Buvoli M, Buvoli A, Leinwand LA.

PLoS One. 2007 May 9;2(5):e427.

PMID:
17487273
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame.

Chang YF, Chan WK, Imam JS, Wilkinson MF.

J Biol Chem. 2007 Oct 12;282(41):29738-47. Epub 2007 Aug 10.

PMID:
17693403
[PubMed - indexed for MEDLINE]
Free Article
11.

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Disset A, Bourgeois CF, Benmalek N, Claustres M, Stevenin J, Tuffery-Giraud S.

Hum Mol Genet. 2006 Mar 15;15(6):999-1013. Epub 2006 Feb 6.

PMID:
16461336
[PubMed - indexed for MEDLINE]
Free Article
12.

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.

Hum Mutat. 2011 Apr;32(4):436-44. doi: 10.1002/humu.21458. Epub 2011 Mar 8.

PMID:
21309043
[PubMed - indexed for MEDLINE]
13.

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.

Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.

J Clin Invest. 1997 Nov 1;100(9):2204-10.

PMID:
9410897
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

Inácio A, Silva AL, Pinto J, Ji X, Morgado A, Almeida F, Faustino P, Lavinha J, Liebhaber SA, Romão L.

J Biol Chem. 2004 Jul 30;279(31):32170-80. Epub 2004 May 25.

PMID:
15161914
[PubMed - indexed for MEDLINE]
Free Article
15.

Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript.

De Rosa M, Morelli G, Cesaro E, Duraturo F, Turano M, Rossi GB, Delrio P, Izzo P.

Gene. 2007 Jun 15;395(1-2):8-14. Epub 2007 Jan 12.

PMID:
17360132
[PubMed - indexed for MEDLINE]
16.

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W.

Am J Hum Genet. 2000 Feb;66(2):356-67.

PMID:
10677295
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

Sharp A, Pichert G, Lucassen A, Eccles D.

Hum Mutat. 2004 Sep;24(3):272.

PMID:
15300854
[PubMed - indexed for MEDLINE]
18.

The association of nonsense codons with exon skipping.

Valentine CR.

Mutat Res. 1998 Sep;411(2):87-117. Review.

PMID:
9806422
[PubMed - indexed for MEDLINE]
19.

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex.

Kim VN, Kataoka N, Dreyfuss G.

Science. 2001 Sep 7;293(5536):1832-6.

PMID:
11546873
[PubMed - indexed for MEDLINE]
Free Article
20.

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Caputi M, Kendzior RJ Jr, Beemon KL.

Genes Dev. 2002 Jul 15;16(14):1754-9.

PMID:
12130535
[PubMed - indexed for MEDLINE]
Free PMC Article

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