“…RESULTS: In the 3 patients, brain imaging identified the same pattern of bilateral SWI hyposignal of the globus pallidus, concordant with iron accumulation. A novel homozygous nonsense mutation was identified in AP4M1, segregating with the disease and leading to truncation of half of the adap domain of the protein. …”
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“…Genetic and cellular analysis of both variants confirmed them to be loss-of-function with enhanced sensitivity to transcript degradation via nonsense mediated decay (NMD) or increased protein turnover via the proteasome. …”
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“…Since its advent as a relatively new subdiscipline, positive psychology has claimed superiority to its precursor, the subdiscipline of humanistic psychology, in terms of supposedly both using more rigorous science and avoiding popularizing nonsense. The debunking of the critical positivity ratio demonstrates that positive psychology did not live up to these claims, and this has important implications, which are discussed in terms of “romantic scientism” and “voodoo science.” …”
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“…This mutation results in an early stop codon in exon 8, which is predicted to cause nonsense-mediated decay of the truncated mRNA and a functionally null PAX6 allele. …”
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“…Among them, three were nonsense mutations, one was a frameshift mutation and the other was a mutation in an intron where the mutation affected splicing. …”
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“…The 6 mutations consisted of 3 3‐bp deletions (codons 17, 101 or 199), 1 missense mutation (codon 252) and 2 truncation mutations (1 nonsense mutation at codon 233 and 1 2‐bp insertion at codon 241). …”
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“…NF2 gene mutation was identified in two cases showing 22q‐LOH (8 bp deletion on the splice donor site of exon 7, and 1 bp insertion at position 432 of exon 4, which resulted in nonsense mutation). There was no significant correlation between these results and c‐kit gene mutation, which was observed in 8 of 22 tumors. …”
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“…They were truncating mutations including four frameshift deletions and two nonsense mutations. The predicted non-functional KMT2D and KDM6A proteins are expected to cause disease by haploinsufficiency. …”
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“…All three were homozygous for either an IL-12Rβ1 missense or nonsense mutation that caused the IL-12Rβ1 protein not to be expressed on the cell membrane and completely abolished the cellular response to recombinant IL-12. …”
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“…In addition, we identified putative B. rapa orthologs of PhyB and isolated two nonsense alleles. BrphyB mutants had significantly decreased or absent CO(2)-stimulated growth responses. …”
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“…Other two showed temperature-resistant growth: one missense mutant produced L-glutamate to some extent but the other nonsense mutant did not. These two mutants remained temperature-resistant in spite of introduction of ltsA::kan mutation that causes temperature-sensitive growth in the wild-type background. …”
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“…Meanwhile, this strategy can be used to precisely mimic human pathologies by efficiently inducing nonsense or missense mutations as well as RNA mis-splicing in rabbit. …”
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“…A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified. …”
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“…Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more challenging in the case of missense mutations and small in‐frame indels. …”
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“…The STN1 oORF impedes translation of the main ORF and reduces STN1 mRNA via the nonsense mediated mRNA decay (NMD) pathway. Interestingly, the homologs of the translation re-initiation factors, MCT-1(Tma20)/DENR(Tma22) also reduce Stn1 levels via the oORF. …”
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“…Genetic analysis revealed that one was heterozygous for a nonsense mutation and other for missense mutation in MEN1 gene. …”
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“…Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178.1:c.1640G>A, p.Trp547*) in the gene Phosphatidylinositol Glycan Anchor Biosynthesis, Class G (PIGG) in both the patients. …”
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“…The mis-splicing causes a substitution of the 157th amino acid from glutamic acid to glycine and finally the 165th codon is changed to stop codon, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The mutation cosegregated with the disease phenotype in the family. …”
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“…Exome sequencing revealed a novel heterozygous nonsense/missense mutations(c.2647C > A/p.E883X and c.1677C > A/p.M559I respectively) in CHD8 gene. …”
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“…SMG7 proteins are evolutionary conserved across eukaryotes and primarily known for their function in nonsense mediated RNA decay (NMD). In contrast to other NMD factors, SMG7 proteins underwent independent expansions during evolution indicating their propensity to adopt novel functions. …”
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