Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.
about
Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndromeIdentification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome.Suppression of premature termination codons as a therapeutic approach.Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.Role of SMG-1-mediated Upf1 phosphorylation in mammalian nonsense-mediated mRNA decay.Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac deathCardiac potassium channel subtypes: new roles in repolarization and arrhythmia.Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.Nonsense-Mediated mRNA Decay of hERG Mutations in Long QT Syndrome.
P2860
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P2860
Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.
description
2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@ast
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@en
type
label
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@ast
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@en
prefLabel
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@ast
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@en
P2093
P2860
P1433
P1476
Nonsense-mediated mRNA decay c ...... ed of type 2 long QT syndrome.
@en
P2093
G Michael Vincent
Ignatius Gerardo Zarraga
Matthew R Stump
Qiuming Gong
Zhengfeng Zhou
P2860
P304
P356
10.1016/J.HRTHM.2011.03.039
P577
2011-03-15T00:00:00Z