Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 82

1.

Human SNPs resulting in premature stop codons and protein truncation.

Savas S, Tuzmen S, Ozcelik H.

Hum Genomics. 2006 Mar;2(5):274-86.

PMID:
16595072
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Distribution and effects of nonsense polymorphisms in human genes.

Yamaguchi-Kabata Y, Shimada MK, Hayakawa Y, Minoshima S, Chakraborty R, Gojobori T, Imanishi T.

PLoS One. 2008;3(10):e3393. doi: 10.1371/journal.pone.0003393. Epub 2008 Oct 14.

PMID:
18852891
[PubMed - indexed for MEDLINE]
Free PMC Article
3.
4.

Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons.

Lamba JK, Adachi M, Sun D, Tammur J, Schuetz EG, Allikmets R, Schuetz JD.

Hum Mol Genet. 2003 Jan 15;12(2):99-109.

PMID:
12499391
[PubMed - indexed for MEDLINE]
Free Article
5.

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M.

Biochim Biophys Acta. 2006 Apr;1762(4):478-84. Epub 2006 Feb 9.

PMID:
16495038
[PubMed - indexed for MEDLINE]
Free Article
6.

Negative selection pressure against premature protein truncation is reduced by alternative splicing and diploidy.

Xing Y, Lee CJ.

Trends Genet. 2004 Oct;20(10):472-5.

PMID:
15363899
[PubMed - indexed for MEDLINE]
7.

Genome-wide analysis of chimpanzee genes with premature termination codons.

Wetterbom A, Gyllensten U, Cavelier L, Bergström TF.

BMC Genomics. 2009 Jan 29;10:56. doi: 10.1186/1471-2164-10-56.

PMID:
19178713
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
9.

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion.

Garagiola I, Valsecchi C, Lavoretano S, Oren H, Bohm M, Peyvandi F.

Haematologica. 2008 Nov;93(11):1678-85. doi: 10.3324/haematol.13102. Epub 2008 Oct 2.

PMID:
18835837
[PubMed - indexed for MEDLINE]
Free Article
10.

Selection for translation efficiency on synonymous polymorphisms in recent human evolution.

Waldman YY, Tuller T, Keinan A, Ruppin E.

Genome Biol Evol. 2011;3:749-61. doi: 10.1093/gbe/evr076. Epub 2011 Jul 29.

PMID:
21803767
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC.

Science. 2002 Mar 22;295(5563):2258-61.

PMID:
11910109
[PubMed - indexed for MEDLINE]
Free Article
12.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
[PubMed - indexed for MEDLINE]
13.

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.

Yngvadottir B, Xue Y, Searle S, Hunt S, Delgado M, Morrison J, Whittaker P, Deloukas P, Tyler-Smith C.

Am J Hum Genet. 2009 Feb;84(2):224-34. doi: 10.1016/j.ajhg.2009.01.008. Epub 2009 Feb 5.

PMID:
19200524
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

Wimmer K, Eckart M, Stadler PF, Rehder H, Fonatsch C.

Hum Mutat. 2000 Jul;16(1):90-1.

PMID:
10874316
[PubMed - indexed for MEDLINE]
15.

Binary specification of nonsense codons by splicing and cytoplasmic translation.

Thermann R, Neu-Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze MW, Kulozik AE.

EMBO J. 1998 Jun 15;17(12):3484-94.

PMID:
9628884
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.

Noensie EN, Dietz HC.

Nat Biotechnol. 2001 May;19(5):434-9.

PMID:
11329012
[PubMed - indexed for MEDLINE]
17.

Analysis of multiple polymorphisms in the bovine neuropeptide Y5 receptor gene and structural modelling of the encoded protein.

Alam T, Bahar B, Waters SM, McGee M, Sweeney T.

Mol Biol Rep. 2012 Apr;39(4):4411-21. doi: 10.1007/s11033-011-1229-9. Epub 2011 Sep 23.

PMID:
21947839
[PubMed - indexed for MEDLINE]
18.
19.

A whole genome long-range haplotype (WGLRH) test for detecting imprints of positive selection in human populations.

Zhang C, Bailey DK, Awad T, Liu G, Xing G, Cao M, Valmeekam V, Retief J, Matsuzaki H, Taub M, Seielstad M, Kennedy GC.

Bioinformatics. 2006 Sep 1;22(17):2122-8. Epub 2006 Jul 15.

PMID:
16845142
[PubMed - indexed for MEDLINE]
Free Article
20.
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk