Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 284

2.

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.

Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE.

J Biol Chem. 2003 Mar 14;278(11):9962-71. Epub 2002 Dec 11.

3.

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
4.

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.

5.

A premature termination codon mutation at the C terminus of foamy virus Gag downregulates the levels of spliced pol mRNA.

Lee EG, Kuppers D, Horn M, Roy J, May C, Linial ML.

J Virol. 2008 Feb;82(4):1656-64. Epub 2007 Dec 5.

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.

8.

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

Schollen E, Grünewald S, Keldermans L, Albrecht B, Körner C, Matthijs G.

Eur J Med Genet. 2005 Apr-Jun;48(2):153-8. Epub 2005 Feb 17.

PMID:
16053906
9.

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B.

Hum Mutat. 2009 May;30(5):795-803. doi: 10.1002/humu.20960.

PMID:
19235233
11.

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.

Danckwardt S, Neu-Yilik G, Thermann R, Frede U, Hentze MW, Kulozik AE.

Blood. 2002 Mar 1;99(5):1811-6.

12.

CYP3A5 mRNA degradation by nonsense-mediated mRNA decay.

Busi F, Cresteil T.

Mol Pharmacol. 2005 Sep;68(3):808-15. Epub 2005 Jun 13.

13.

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.

14.

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.

Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.

16.
17.

Regulation of H-ras splice variant expression by cross talk between the p53 and nonsense-mediated mRNA decay pathways.

Barbier J, Dutertre M, Bittencourt D, Sanchez G, Gratadou L, de la Grange P, Auboeuf D.

Mol Cell Biol. 2007 Oct;27(20):7315-33. Epub 2007 Aug 20.

18.

Involvement of SR proteins in mRNA surveillance.

Zhang Z, Krainer AR.

Mol Cell. 2004 Nov 19;16(4):597-607.

19.

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE.

J Biol Chem. 2002 Jul 12;277(28):25815-22. Epub 2002 Apr 30.

20.

Knock-in mice reveal nonsense-mediated mRNA decay in the brain.

Contet C, Dierich A, Kieffer BL.

Genesis. 2007 Jan;45(1):38-43.

PMID:
17216605
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk