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  1. 1661
    “…The cognate gene for the mutant was shown to be smyd1b and the still heart mutation results in an early nonsense codon. SMYD1 mutants show a lack of heart looping and chamber definition due to a lack of expression of heart morphogenesis factors gata4, gata5 and hand2. …”
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    Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly
  2. 1662
    “…Autosomal dominant mutations, including nonsense, frameshift and missense changes, in the gene encoding the microtubule severing ATPase spastin are the most common cause of HSP in North America and northern Europe. …”
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    Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin
  3. 1663
    “…We observed 23 nonsynonymous mutations and 1 nonsense mutation. Six of these changes are within known binding sites for sequence-based EBOV medical countermeasures; however, the diagnostic and therapeutic impact of EBOV evolution within Liberia appears to be low.…”
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    Monitoring of Ebola Virus Makona Evolution through Establishment of Advanced Genomic Capability in Liberia
  4. 1664
    “…Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs 137854476), in the FBN1 gene. …”
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    Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome
  5. 1665
    “…DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. …”
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    Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant
  6. 1666
    “…There were 13 missense mutations identified in the xenograft that were not present in the patient’s primary tumor and there were no new nonsense mutations. None of the missense mutations acquired in the xenograft were in known cancer genes. …”
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    Development and characterization of a human orthotopic neuroblastoma xenograft
  7. 1667
    “…WES detected a known homozygous nonsense mutation in BSCL2 (NM_001122955.3:c. 985C>T; p.Arg329*). …”
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    Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
  8. 1668
    “…Combining with the cancer-related mutation spectra obtained from 9 cancers, our results hint that, similar as missense and nonsense mutations, synonymous mutations are also strongly correlated with the parameter sensitivity of the critical dose, providing possible causal mechanism of the mutations in cancer development. …”
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    Synonymous mutations in oncogenesis and apoptosis versus survival unveiled by network modeling
  9. 1669
    “…Here, we assess the interplay of splicing repression by hnRNPC and nonsense-mediated mRNA decay (NMD) in the quality control and evolution of new Alu-exons. …”
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    Splicing repression allows the gradual emergence of new Alu-exons in primate evolution
  10. 1670
    “…We showed participants a brief real or nonsense preview of the scene and examined the time-course of eye movement guidance. …”
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    The influence of a scene preview on eye movement behavior in natural scenes
  11. 1671
    “…However, assessing the precise chemical contribution of Arg side chains to protein function and pharmacology has proven to be exceedingly difficult in such large and complex proteins. Using the in vivo nonsense suppression approach, we report the first successful incorporation of the isosteric, titratable Arg analog, canavanine, into a neurotransmitter receptor in a living cell, utilizing a glutamate-gated chloride channel from the nematode Haemonchus contortus. …”
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    Unique Contributions of an Arginine Side Chain to Ligand Recognition in a Glutamate-gated Chloride Channel
  12. 1672
    “…Nonsense-mediated mRNA decay (NMD) plays an important role in eukaryotic gene expression, yet the scope and the defining features of NMD-targeted transcripts remain elusive. …”
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    High-resolution profiling of NMD targets in yeast reveals translational fidelity as a basis for substrate selection
  13. 1673
    “…We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ transmission in VAMP1 (lew/lew) mice, observing neurophysiological features of presynaptic impairment, similar to the patients. …”
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    Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
  14. 1674
    por Son, Heehwa G., Lee, Seung-Jae V.
    Publicado 2017
    “…In our recent work, we show that nonsense-mediated mRNA decay (NMD) promotes longevity in the roundworm C. elegans by enhancing RNA quality control. …”
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    Longevity regulation by NMD-mediated mRNA quality control
  15. 1675
    por Ryu, Incheol, Kim, Yoon Ki
    Publicado 2017
    “…CT is largely associated with mRNA surveillance such as nonsense-mediated mRNA decay (NMD), whereas ET is predominantly involved in the bulk of protein synthesis. …”
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    Translation initiation mediated by nuclear cap-binding protein complex
  16. 1676
    “…Nonsense-mediated mRNA decay (NMD) is a eukaryotic mRNA degradation pathway involved in surveillance and post-transcriptional regulation, and executed by the concerted action of several trans-acting factors. …”
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    Structure of a SMG8–SMG9 complex identifies a G-domain heterodimer in the NMD effector proteins
  17. 1677
    por Larkin, Mary E. M., Place, Allen R.
    Publicado 2017
    “…We present here evidence of a translational readthrough of a mutant nonsense UAG codon in the transcript from the cysteine sulfinic acid decarboxylase (csad) gene (ENSDARG00000026348) in zebrafish. …”
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    Running the Stop Sign: Readthrough of a Premature UAG Termination Signal in the Translation of a Zebrafish (Danio rerio) Taurine Biosynthetic Enzyme
  18. 1678
    “…The IVS6+1G>T was the most common (50%) mutation identified in our study, followed by the K376X nonsense mutation (37.5%). In our study, we found that genetic information affected the severity of congenital FVII deficiency with ICH.…”
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    Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children
  19. 1679
    “…It appears likely that the tight order of splicing is important for HIV-1 replication, which requires the stable production of intron containing RNAs, while splicing of 3′ introns on incompletely spliced RNAs would be likely to render them subject to nonsense-mediated decay.…”
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    Splicing of human immunodeficiency virus RNA is position-dependent suggesting sequential removal of introns from the 5′ end
  20. 1680
    por Monte-Ordoño, Júlia, Toro, Juan M.
    Publicado 2017
    “…We registered ERPs while presenting participants with trisyllabic CVCVCV nonsense words in an oddball paradigm. Standard stimuli followed an ABB rule (where A and B are different syllables). …”
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    Early positivity signals changes in an abstract linguistic pattern
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