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  1. 2621
    “…We demonstrate that the mRNA species carrying the stop codon is subjected to Nonsense-Mediated Decay, providing a control mechanism of channel expression. …”
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    Mutually exclusive splicing regulates the Na(v) 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands
  2. 2622
    “…Using PCR-based high resolution melt curve analysis (HRMA) of G0 founder animals, we screened and identified three mutants carrying nonsense mutations in the 2(nd) coding exon: a 17 base-pair (bp) deletion, an 8bp deletion, and a 4bp insertion. …”
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    Zebrafish foxP2 Zinc Finger Nuclease Mutant Has Normal Axon Pathfinding
  3. 2623
    “…These SRSF3-mediated splicing events led to downregulation of heterologous SR proteins via nonsense-mediated decay. CONCLUSIONS: SRSF3 and SRSF4 display unique RNA binding properties underlying diverse cellular regulatory mechanisms, with shared as well as unique coding and non-coding targets. …”
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    The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes
  4. 2624
    “…RESULTS: Five mutations in known hearing loss genes, including 1 nonsense and 4 missense mutations, were identified in 5 different genes (ACTG1, MYO1F, DIAPH1, POU4F3 and EYA4), and the genotypes for these mutations were consistent with the autosomal dominant inheritance pattern of hearing loss in each family. …”
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    Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
  5. 2625
    “…Fifteen alleles were obtained, resulting from nonsense and missense mutations. Among these, 14 demonstrated recessive lethality, with one displaying temperature-sensitive lethality. …”
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    Restoration of Topoisomerase 2 Function by Complementation of Defective Monomers in Drosophila
  6. 2626
    “…CONCLUSIONS: These results indicate that, though the overall positive rates have nonsense in ACR diagnosis, the quantification and local distribution analysis of cytotoxic molecule positive cells in liver tissue is helpful for differential diagnosis and severity evaluation of ACR following liver transplantation. …”
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    Local distribution analysis of cytotoxic molecules in liver allograft is helpful for the diagnosis of acute cellular rejection after orthotopic liver transplantation
  7. 2627
    “…The pathogenic mutations included two frame-shift mutations (c.798_799delTT, c.1016dupA), one missense mutation (c.5095C>T), and one nonsense mutation (c.4942A>T). The c.798_799delTT mutation was also observed in Algerian and Tunisian BC families, suggesting the first non-Jewish founder mutation to be described in Northern Africa. …”
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    Mutation Screening of the BRCA1 Gene in Early Onset and Familial Breast/Ovarian Cancer in Moroccan Population
  8. 2628
    “…In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. …”
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    Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes
  9. 2629
    “…These observations are consistent with previous demonstrations that decreased levels of the nonsense RNA-mediated decay factors SMG1 and UPF1 increase TERRA at telomeres and interfere with replication of leading-strand telomeres. …”
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    TERRA, hnRNP A1, and DNA-PKcs Interactions at Human Telomeres
  10. 2630
    “…Second proband was homozygous for a nonsense mutation in exon 8 (c.923 G > A) predicted to cause a truncated protein of 307 amino acids (p.W308X), previously reported in ABL patients. …”
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    Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
  11. 2631
    “…Our paradigm consisted of learning verbal material (lists of five pairs of nonsense syllables) acquired by a training process (L1-training) on Day 1 of our experiment. …”
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    The Role and Dynamic of Strengthening in the Reconsolidation Process in a Human Declarative Memory: What Decides the Fate of Recent and Older Memories?
  12. 2632
    “…We also show that in RES-deficient cells, the TAN1 pre-mRNA is targeted for degradation by the cytoplasmic nonsense-mediated mRNA decay pathway, indicating that poor nuclear retention may contribute to the tRNA modification defect. …”
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    The pre-mRNA retention and splicing complex controls tRNA maturation by promoting TAN1 expression
  13. 2633
    “…The majority of cold regulated alternative splicing introduced a premature termination codon (PTC) into the transcripts creating potential targets for degradation by the nonsense mediated mRNA decay (NMD) process. A number of these genes were analyzed in NMD-defective mutants by RT-PCR and shown to evade NMD. …”
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    Genome-Wide Survey of Cold Stress Regulated Alternative Splicing in Arabidopsis thaliana with Tiling Microarray
  14. 2634
    “…The GIS analysis results clearly show that ZITT boundary is cartographically nonsense due to the impossibility of mapping out the perimeter. …”
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    Uncontacted Waorani in the Yasuní Biosphere Reserve: Geographical Validation of the Zona Intangible Tagaeri Taromenane (ZITT)
  15. 2635
    “…The first patient was subsequently found on whole exome sequencing to have a nonsense mutation (p.R44X) in NDE1 on the non-deleted chromosome 16 homolog. …”
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    Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
  16. 2636
    “…Here, to test the effects of mutation types and aging on RF expansion and muscle regeneration, we examined the number of RFs in mdx mice (containing a nonsense mutation in exon 23) and mdx52 mice (containing deletion mutation of exon 52) with the same C57BL/6 background at 2, 6, 12, and 18months of age. …”
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    Mutation Types and Aging Differently Affect Revertant Fiber Expansion in Dystrophic Mdx and Mdx52 Mice
  17. 2637
    “…Of 194 different missense or nonsense variants described as potentially pathogenic, we identified only two in more than 6,000 controls. …”
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    Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
  18. 2638
    “…Several synaptic genes predisposing to autism-spectrum disorder (ASD) have been identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I have been identified in families segregating for idiopathic epilepsy and ASD and genetic mapping analyses have identified variations in the SYN2 gene as significantly contributing to epilepsy predisposition. …”
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    Autism-related behavioral abnormalities in synapsin knockout mice
  19. 2639
    “…We found that, unlike their metazoan orthologs, Esl1 and Esl2 were not involved in nonsense-mediated mRNA decay or telomere maintenance pathways. …”
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    Yeast hEST1A/B (SMG5/6)–Like Proteins Contribute to Environment-Sensing Adaptive Gene Expression Responses
  20. 2640
    “…The inclusion of cryptic exons introduced a premature termination codon, which leads to nonsense-mediated decay of the mutant transcripts in vivo. …”
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    A Deep Intronic Mutation in the Ankyrin-1 Gene Causes Diminished Protein Expression Resulting in Hemolytic Anemia in Mice
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