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Items: 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
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
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
4.

The power of point mutations.

Maquat LE.

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

PMID:
11137984
5.

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
6.

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.

7.

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
8.

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
9.
10.

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.

11.

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
12.

The association of nonsense codons with exon skipping.

Valentine CR.

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

PMID:
9806422
13.
14.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.

Hum Mutat. 2004 Aug;24(2):120-9.

PMID:
15241793
15.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
16.

Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S.

Oncogene. 2006 Jan 12;25(2):323-8.

PMID:
16170354
17.

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

Ridout CK, Keighley P, Krywawych S, Brown RM, Brown GK.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9525.

PMID:
18273899
19.

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.

Millevoi S, Bernat S, Telly D, Fouque F, Gladieff L, Favre G, Vagner S, Toulas C.

Breast Cancer Res Treat. 2010 Apr;120(2):391-9. doi: 10.1007/s10549-009-0392-3. Epub 2009 Apr 30.

PMID:
19404736
20.

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