Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
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Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonTracking and coordinating an international curation effort for the CCDS ProjectHomozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentThe canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence contextThe importance of being divisible by three in alternative splicingGene expression regulation by upstream open reading frames and human diseaseMutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsThe uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).Nucleosome deposition and DNA methylation may participate in the recognition of premature termination codon in nonsense-mediated mRNA decay.Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanismKaposi's sarcoma-associated herpesvirus K8beta is derived from a spliced intermediate of K8 pre-mRNA and antagonizes K8alpha (K-bZIP) to induce p21 and p53 and blocks K8alpha-CDK2 interactionUnspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cellsA cell type-restricted mRNA surveillance pathway triggered by ribosome extension into the 3' untranslated region.Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia.Unproductive alternative splicing and nonsense mRNAs: a widespread phenomenon among plant circadian clock genes.Identification of a Novel Human E-Cadherin Splice Variant and Assessment of Its Effects Upon EMT-Related Events.Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decayProduction of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinomaNonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.RNA processing and mRNA surveillance in monogenic diabetes.Characterization of DNA polymerase beta splicing variants in gastric cancer: the most frequent exon 2-deleted isoform is a non-coding RNAControl of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype.Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes.Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity.An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channelsAutoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.Nonsense-mediated mRNA decay (NMD) mechanisms.Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension.Hitchhiking Trypanosoma cruzi minicircle DNA affects gene expression in human host cells via LINE-1 retrotransposon.Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations.Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases.
P2860
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P2860
Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Nonsense mutations in close pr ...... nonsense-mediated mRNA decay.
@en
type
label
Nonsense mutations in close pr ...... nonsense-mediated mRNA decay.
@en
prefLabel
Nonsense mutations in close pr ...... nonsense-mediated mRNA decay.
@en
P2093
P2860
P50
P356
P1476
Nonsense mutations in close pr ...... l nonsense-mediated mRNA decay
@en
P2093
Fátima Almeida
Joana Pinto
Stephen A Liebhaber
P2860
P304
32170-32180
P356
10.1074/JBC.M405024200
P407
P577
2004-05-25T00:00:00Z