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Items: 1 to 20 of 77

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.

3.

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.

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
6.

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.

7.

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
8.

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.

9.

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
10.

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
11.

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.

12.

Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales.

Gu W, Gurguis CI, Zhou JJ, Zhu Y, Ko EA, Ko JH, Wang T, Zhou T.

Genome Biol Evol. 2015 Oct 9;7(10):2929-40. doi: 10.1093/gbe/evv191.

13.

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
15.

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
17.

In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

Aouacheria A, Navratil V, López-Pérez R, Gutiérrez NC, Churkin A, Barash D, Mouchiroud D, Gautier C.

BMC Genomics. 2007 Jan 3;8:2.

18.

Characterization of single-nucleotide polymorphisms in coding regions of human genes.

Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES.

Nat Genet. 1999 Jul;22(3):231-8. Erratum in: Nat Genet 1999 Nov;23(3):373.

PMID:
10391209
19.

Prediction of deleterious human alleles.

Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P.

Hum Mol Genet. 2001 Mar 15;10(6):591-7.

PMID:
11230178
20.

Nonsense-mediated mRNA decay (NMD) silences the accumulation of aberrant trypsin proteinase inhibitor mRNA in Nicotiana attenuata.

Wu J, Kang JH, Hettenhausen C, Baldwin IT.

Plant J. 2007 Aug;51(4):693-706. Epub 2007 Jun 22.

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