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Items: 1 to 20 of 93

1.

The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon.

Buisson M, Anczuków O, Zetoune AB, Ware MD, Mazoyer S.

Hum Mutat. 2006 Oct;27(10):1024-9.

PMID:
16941470
2.

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
3.

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.

4.

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.

Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S.

Hum Genet. 2005 Nov;118(2):214-24. Epub 2005 Nov 15.

PMID:
16133182
5.

A somatic mutation in the 5'UTR of BRCA1 gene in sporadic breast cancer causes down-modulation of translation efficiency.

Signori E, Bagni C, Papa S, Primerano B, Rinaldi M, Amaldi F, Fazio VM.

Oncogene. 2001 Jul 27;20(33):4596-600.

6.

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.

7.

[Possibility of using fusion proteins for detection of nonsense mutations and frame-shift mutations in BRCA1 gene].

Gutkina NI, Gaĭdamakova EK, Varlakhanova NV, Kovalenko SP.

Mol Gen Mikrobiol Virusol. 2002;(1):31-6. Russian.

PMID:
11904923
8.

Initiation of translation from a downstream in-frame AUG codon on BRCA1 can generate the novel isoform protein DeltaBRCA1(17aa).

Liu J, Prolla G, Rostagno A, Chiarle R, Feiner H, Inghirami G.

Oncogene. 2000 May 25;19(23):2767-73.

9.

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
10.

Transcriptional silencing of nonsense codon-containing immunoglobulin micro genes requires translation of its mRNA.

Stalder L, Mühlemann O.

J Biol Chem. 2007 Jun 1;282(22):16079-85. Epub 2007 Apr 11.

11.

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

Montfort M, Chabás A, Vilageliu L, Grinberg D.

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):46-52. Epub 2005 Dec 2.

PMID:
16326120
12.

Transient idling of posttermination ribosomes ready to reinitiate protein synthesis.

Karamyshev AL, Karamysheva ZN, Yamami T, Ito K, Nakamura Y.

Biochimie. 2004 Dec;86(12):933-8.

PMID:
15667944
13.
14.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA.

Hum Mutat. 2008 Feb;29(2):277-83.

PMID:
17994553
17.

Independent origin of 185delAG BRCA1 mutation in an Indian family.

Kadalmani K, Deepa S, Bagavathi S, Anishetty S, Thangaraj K, Gajalakshmi P.

Neoplasma. 2007;54(1):51-6.

PMID:
17203892
18.

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

Anczuków O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S.

Hum Mutat. 2008 Jan;29(1):65-73.

PMID:
17694537
19.

A conserved role for cytoplasmic poly(A)-binding protein 1 (PABPC1) in nonsense-mediated mRNA decay.

Behm-Ansmant I, Gatfield D, Rehwinkel J, Hilgers V, Izaurralde E.

EMBO J. 2007 Mar 21;26(6):1591-601. Epub 2007 Feb 22.

20.

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