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  1. 2821
    “…The RNA helicase UPF1 is a key component of the nonsense mediated mRNA decay (NMD) pathway. Previous X-ray crystal structures of UPF1 elucidated the molecular mechanisms of its catalytic activity and regulation. …”
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    A conserved structural element in the RNA helicase UPF1 regulates its catalytic activity in an isoform-specific manner
  2. 2822
    por Chen, Bing-Fang
    Publicado 2018
    “…According to the mutation type, five pre-S/S variants have been identified: pre-S deletion, pre-S point mutation, pre-S1 splice variant, C-terminus S point mutation, and pre-S/S nonsense mutation. Their associations with HBV genotype and the possible pathogenesis of pre-S/S variants are discussed. …”
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    Hepatitis B virus pre-S/S variants in liver diseases
  3. 2823
    “…RNA sequencing data from the proband confirmed aberrant splicing with intron 11 retention, thereby introducing a stop codon in the resultant mRNA. This nonsense mutation is predicted to result in the premature termination of protein synthesis leading to loss of function of the EMC1 protein. …”
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    A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy
  4. 2824
    “…We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense‐mediated mRNA decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.…”
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    Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome
  5. 2825
    “…The most common strategy is the introduction of a frameshift into the open reading frame (ORF) of the target gene which truncates the coding sequence (CDS) and targets the corresponding transcript for degradation by nonsense-mediated mRNA decay (NMD). However, we show that transcripts containing premature termination codons (PTCs) are not always degraded efficiently and can generate C-terminally truncated proteins which might have residual or dominant negative functions. …”
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    CRISPR-Trap: a clean approach for the generation of gene knockouts and gene replacements in human cells
  6. 2826
    “…Our results further indicate the presence of strong, nonsense-mediated decay in VWF messenger RNA (mRNA) containing the duplication, which was supported by the almost complete absence of the complete VWF protein in immunohistochemistry analysis of the VWD-affected pig. …”
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    A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3
  7. 2827
    por Roebuck, Hettie, Barry, Johanna G.
    Publicado 2018
    “…The targets were either mispronunciations or nonsense words. Sentence context was modulated to separate out effects due to deficits in language processing from effects due to deficits in attention. …”
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    Parental perception of listening difficulties: an interaction between weaknesses in language processing and ability to sustain attention
  8. 2828
    “…Effective subtests in all grades, presumably not strongly influenced by Cultural Background or Word Lexicon, were One-Minute Reading, Non-Word Reading, and Nonsense Passage Reading. In a multilevel analysis, cultural background, dyslexia diagnosis, parental education, and grade of first assessment were predictors of subtest performance. …”
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    Bias in dyslexia screening in a Dutch multicultural population
  9. 2829
    “…Using whole exome sequencing, we found that 26% of a cohort of 23 subjects with OMD harboured the same homozygous nonsense pathogenic mutation in PATL2, a gene encoding a putative RNA‐binding protein. …”
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    PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice
  10. 2830
    “…Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice‐site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. …”
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    Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
  11. 2831
    “…The iterative threading assembly refinement (I-TASSER) server generated vastly different 3-dimensional (3D) atomic models based on protein sequences from wide-type and novel nonsense mutation of c.295C>T (p.R99X) in CHRNE. DIAGNOSES: The diagnosis of CMS with CHRNE mutations in Han Chinese was confirmed. …”
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    CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report
  12. 2832
    “…Here we show that a protein kinase D2 (PRKD2) nonsense mutation (K410X) in two rhesus monkeys with extreme hyperinsulinemia along with IR and metabolic defects by using extreme phenotype sampling and deep sequencing analyses. …”
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    Deficiency of PRKD2 triggers hyperinsulinemia and metabolic disorders
  13. 2833
    “…The epidemiology of this latter mutation is of particular interest, as it is a candidate for inhibition of nonsense-mediated mRNA decay. Haplotype analysis was performed to determine the origin of this mutation in this consanguineous cohort, which suggested that it may develop sporadically in different populations. …”
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    The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
  14. 2834
    “…Compared with ribosome-free lncRNAs, ribosome-associated lncRNAs were observed to be more likely to be located in the cytoplasm and more sensitive to nonsense-mediated decay. CONCLUSION: Our results suggest that RAI can be used as an integrative and evidence-based tool for distinguishing between ribosome-associated and free lncRNAs, providing a valuable resource for the study of lncRNA functions. …”
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    Identification and analysis of ribosome-associated lncRNAs using ribosome profiling data
  15. 2835
    “…Thus, pylT is an appropriate tRNA species for delivery of amino acids via nonsense suppression in the Xenopus oocyte. It may prove useful in experimental contexts wherein reacylation of suppressor tRNAs have been observed.…”
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    Orthogonality of Pyrrolysine tRNA in the Xenopus oocyte
  16. 2836
    “…We generated a new fly model of NGLY1 Deficiency, engineered with a nonsense mutation in Pngl at codon 420 that results in a truncation of the C-terminal carbohydrate-binding PAW domain. …”
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    Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency
  17. 2837
    “…Here we use chemical misacylation and in vivo nonsense suppression to encode citrulline, a neutral and nearly isosteric analogue of arginine, into the voltage sensor of the Shaker potassium channel. …”
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    Replacing voltage sensor arginines with citrulline provides mechanistic insight into charge versus shape
  18. 2838
    “…This morphological change is known to be caused by a nonsense mutation in one of the recently duplicated chordin genes, which are key players in dorsal–ventral (DV) patterning. …”
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    An alternative evolutionary pathway for the twin‐tail goldfish via szl gene mutation
  19. 2839
    “…Subjects with at least one RPE65 nonsense variant appeared to show greater progressive loss of retinal sensitivity in the second decade of life than those without. …”
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    A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis
  20. 2840
    “…The reading frame of the aberrantly skipped exons maintained a ratio of 2:1:1, close to that of the cassette exons (3:1:1) present in naturally occurring isoforms, suggesting negative selection by the nonsense-mediated decay (NMD) machinery for out-of-frame transcripts. …”
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    Inhibition of SF3B1 by molecules targeting the spliceosome results in massive aberrant exon skipping
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