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  1. 2661
    “…These mutations, a frameshift mutation in exon 6 and a nonsense mutation in exon 4, segregated with disease with a combined LOD score of 7.7. …”
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    TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome
  2. 2662
    por Helon, Honorata, Króliczak, Gregory
    Publicado 2014
    “…On congruent trials, a picture or word was directly related to the presented gesture, including nonsense pictures or non-words for meaningless actions. …”
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    The effects of visual half-field priming on the categorization of familiar intransitive gestures, tool use pantomimes, and meaningless hand movements
  3. 2663
    “…Two additional likely loss-of-function variants in genes known to cause dominant congenital cataract were considered and excluded based on control data and cosegregation analysis: a nonsense variant in CYRBB3, c.547G>T, p.(Glu183*), and a splicing variant in CRYBA2, c.446+1G>A. …”
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    Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract
  4. 2664
    “…By means of Sanger sequencing of METTL23, a nonsense mutation was detected in a consanguineous ID family from Pakistan for which homozygosity-by-descent mapping had identified a region on 17q25. …”
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    Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability
  5. 2665
    “…Sequence-based features such as loss of functional domains, isoform-specific truncation and nonsense-mediated decay were found to correlate with variant allele frequency and validated with gene expression data. …”
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    Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes
  6. 2666
    “…To comprehensively define the effects of sequence variation on tRNA function, we developed a high-throughput in vivo screen to quantify the activity of a model tRNA, the nonsense suppressor SUP4(oc) of Saccharomyces cerevisiae. …”
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    Identification of the determinants of tRNA function and susceptibility to rapid tRNA decay by high-throughput in vivo analysis
  7. 2667
    “…Nonsense-mediated mRNA decay (NMD) is a eukaryotic surveillance pathway that recognizes mRNAs with premature stop codons and targets them for rapid degradation. …”
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    Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5–SMG7 and SMG6
  8. 2668
    “…Cystic pituitary masses and abnormalities of the sella turcica are reported in just 6.4 % of published cases. This is a new nonsense mutation associated with ataxia, benign chorea and pituitary abnormalities which further extends the phenotype of this condition. …”
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    A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
  9. 2669
    “…Compared with the genome of laboratory model strain S288C, we identified more than 32,000 SNPs in Y-12632 with 23,000 missense and nonsense SNPs. Enriched sequence mutations occurred for genes involved in MAPK- and phosphatidylinositol (PI)- signaling pathways in strain Y-12632, with 41 and 13 genes containing non-synonymous SNPs, respectively. …”
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    Genomic and transcriptome analyses reveal that MAPK- and phosphatidylinositol-signaling pathways mediate tolerance to 5-hydroxymethyl-2-furaldehyde for industrial yeast Saccharomyces cerevisiae
  10. 2670
    “…The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348∗ and p.V1165M in case 3. …”
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    Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease
  11. 2671
    “…We therefore created a new line of knockout mice (Slurp1X(−/−) mice) with a simple nonsense mutation in exon 2. The Slurp1X mutation did not reduce the expression of adjacent genes, but Slurp1X(−/−) mice exhibited all of the phenotypes observed in the original line of knockout mice. …”
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    Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice
  12. 2672
    “…The nucleotide preference of POLE-exo* leads to increased frequencies of recurrent nonsense mutations in key tumor suppressors such as TP53, ATM, and PIK3R1. …”
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    Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication
  13. 2673
    “…This “transcriptome tuning” function of IR acts through both nonsense-mediated mRNA decay and nuclear sequestration and turnover of IR transcripts. …”
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    Widespread intron retention in mammals functionally tunes transcriptomes
  14. 2674
    “…Cross hybridization and autofluorescence effects could be excluded by the use of a nonsense probe and negative controls, respectively. …”
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    Development of a flow-fluorescence in situ hybridization protocol for the analysis of microbial communities in anaerobic fermentation liquor
  15. 2675
    “…Although we cannot definitely answer the question as to why splice-related selection is so important, we find no evidence that splicing might enable the nonsense-mediated decay pathway to capture transcripts incorrectly processed by ribosomes. …”
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    Purifying Selection on Splice-Related Motifs, Not Expression Level nor RNA Folding, Explains Nearly All Constraint on Human lincRNAs
  16. 2676
    “…Here, we report the characterization of multiple novel ethyl methanesulfonate (EMS)-induced nonsense alleles in the Drosophila LRRK2 homolog, lrrk. …”
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    Novel ethyl methanesulfonate (EMS)-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo
  17. 2677
    “…Linkage analysis of trg combined with sequencing identified a nonsense mutation in tropomodulin4 (tmod4), a regulator of thin filament length and stability. …”
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    Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy
  18. 2678
    “…Intriguingly, most regulated GYNNGYs may tune gene expression through coupling with nonsense-mediated mRNA decay, rather than encode different proteins. …”
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    Alternative splicing at GYNNGY 5′ splice sites: more noise, less regulation
  19. 2679
    “…Moreover, MARVELD1 modulated the efficiency of nonsense-mediated mRNA decay (NMD) through interaction with NMD core factor SMG1. …”
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    Biological and clinical significance of epigenetic silencing of MARVELD1 gene in lung cancer
  20. 2680
    “…Deletion of the Pab1 interaction domain on eRF3 did not affect general mRNA stability or nonsense-mediated mRNA decay (NMD) pathway and induced a decrease in translational readthrough. …”
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    Interaction between the poly(A)-binding protein Pab1 and the eukaryotic release factor eRF3 regulates translation termination but not mRNA decay in Saccharomyces cerevisiae
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