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Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the <i>ADSL</i> gene. [PDF]
Front GenetBorovikov A +6 more
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NMD-insensitive CDH1 mutation as a mechanism for retained E-cadherin protein expression in lobular carcinoma in situ (LCIS). [PDF]
HistopathologyChristgen M, Bartels S, Kreipe H.
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The impact of ribosome association on lncRNA stability: a new layer of post-transcriptional control? [PDF]
Biochem Soc TransPienaar CK, Towler BP, Newbury SF.
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A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing. [PDF]
Genes (Basel)Zimmermann H +7 more
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Nonsense-mediated mRNA decay (NMD) mechanisms
Nature Structural & Molecular Biology, 2009Nonsense-mediated mRNA decay (NMD) is a translation-coupled mechanism that eliminates mRNAs containing premature translation-termination codons (PTCs). In mammalian cells, NMD is also linked to pre-mRNA splicing, as in many instances strong mRNA reduction occurs only when the PTC is located upstream of an intron.
Saverio, Brogna, Jikai, Wen
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Blood Cells, Molecules, and Diseases, 2010
We describe a new approach to stabilize nonsense mRNA, based on the inhibition of the NMD mechanism, by combining cycloheximide-mediated inhibition of translation, and caffeine-mediated inhibition of UPF1 phosphorylation. This approach aimed to identify the impact of a 4.1R splicing mutation. This mutation is involved in a partial deficiency of 4.1R in
Madeleine, Morinière +5 more
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We describe a new approach to stabilize nonsense mRNA, based on the inhibition of the NMD mechanism, by combining cycloheximide-mediated inhibition of translation, and caffeine-mediated inhibition of UPF1 phosphorylation. This approach aimed to identify the impact of a 4.1R splicing mutation. This mutation is involved in a partial deficiency of 4.1R in
Madeleine, Morinière +5 more
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2013
Nonsense–mediated mRNA Decay (NMD) is a mechanism of translation-dependent mRNA surveillance in eukaryotes: it degrades mRNAs with premature termination codons (PTCs) as well as a number of normal, physiological important mRNAs. In mammals, the degradation of PTC-containing mRNAs is triggered by the exon-junction-complex (EJC) through binding of its ...
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Nonsense–mediated mRNA Decay (NMD) is a mechanism of translation-dependent mRNA surveillance in eukaryotes: it degrades mRNAs with premature termination codons (PTCs) as well as a number of normal, physiological important mRNAs. In mammals, the degradation of PTC-containing mRNAs is triggered by the exon-junction-complex (EJC) through binding of its ...
openaire +1 more source