“…To date, only frameshift and nonsense variants in exon 2, the single coding exon of AMER1, or whole gene deletions have been reported to cause OSCS. …”
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“…Translation-dependent quality control pathways such as no-go decay (NGD), non-stop decay (NSD), and nonsense-mediated decay (NMD) govern protein synthesis and proteostasis by resolving non-translating ribosomes and preventing the production of potentially toxic peptides derived from faulty and aberrant mRNAs. …”
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“…Using peripheral blood mononuclear cells, we developed induced pluripotent stem cell (iPSC) lines from a patient with the NHE6 nonsense mutation c.1569G > A (p. (W523X)) and diagnosed with CS and from a biologically-related control. …”
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“…In eukaryotic cells, nonsense-mediated mRNA decay (NMD) constitutes an mRNA surveillance pathway for sensing and degrading aberrant transcripts harboring premature termination codons (PTCs). …”
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“…There is a spectrum of disease-causing FMR1 variation, with clinical and functional evidence supporting pathogenicity of five splicing, five missense, one in-frame deletion, one nonsense, and four frameshift variants. In addition, FMR1 deletions occur in both mosaic full mutation patients and as constitutional pathogenic alleles. …”
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“…Here we show that complete inactivation of this enzyme in the model ascomycete Podospora anserina through targeted deletion of the PaPks1 gene results in reduced female fertility, in contrast to a previously analyzed nonsense mutation in the same gene that retains full fertility. …”
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“…Next-generation sequencing was later performed, which revealed a nonsense mutation in the ABCG8 gene, which led to the diagnosis of sitosterolemia. …”
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“…OBSERVATIONS: An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. …”
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“…The mutational analysis revealed a novel nonsense mutation in the FAM83H gene (NM_198488.5: c.1363C > T, p.…”
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“…On the other hand, we detected no evidence for substantial nonsense-mediated ASPM transcript decay in blood samples. …”
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“…Multiple studies have shown that overexpression of UPF1, a key nonsense-mediated mRNA decay (NMD) factor, reduces HCC growth through various cell signaling pathways. …”
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“…In view of strong family history, a clinical exome sequencing was done which showed a heterozygous nonsense variation in exon 6 of the AIP gene (chr11:g.67490910C>T).…”
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“…In myeloid neoplasms, the median age of patients with germline missense was lower than that of germline nonsense mutations. In ALL, the characteristics of DDX41 mutation were distinct. …”
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“…The target stimuli involve ambiguous vowels, embedded in a frame that would result in a real word with a KIT or a DRESS vowel and a nonsense word with the alternative vowel; thus, lexical decision responses can reveal which vowel was heard. …”
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“…They play significant roles in constitutive and alternative pre-mRNA splicing, and are involved in post-splicing activities, such as mRNA nuclear export, nonsense-mediated mRNA decay, mRNA translation, and miRNA biogenesis. …”
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“…The exon junction complex (EJC) plays a crucial role in regulating gene expression at the levels of alternative splicing, translation, mRNA localization, and nonsense-mediated decay (NMD). The EJC is comprised of three core proteins: RNA-binding motif 8A (RBM8A), Mago homolog (MAGOH), eukaryotic initiation factor 4A3 (eIF4A3), and a peripheral EJC factor, metastatic lymph node 51 (MLN51), in addition to other peripheral factors whose structural integration is activity-dependent. …”
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“…Due to the premature termination codons introduced by the frameshift, both mutant transcripts would be degraded by nonsense-mediated mRNA decay, resulting in haploinsufficiency.…”
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“…Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in TPP1 (NM_000391:c.C832T, (p.Q278*), rs1352347549). …”
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“…An analysis of the patient's genetics revealed a nonsense mutation (C.1207G > T). His DMD was treated with hormones. …”
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“…In fission yeast, ade6-M26, a nonsense point mutation of ade6 is a well-characterized meiotic recombination hotspot caused by the heptanucleotide sequence 5′-ATGACGT-3′ at the M26 mutation point. …”
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