“…Firstly, UPF1 specifically degrades premature termination codon (PTC)-containing products in a nonsense-mediated mRNA decay (NMD)-coupled manner. …”
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“…We found 11 CSF1R mutations, including splicing (n = 3), missense (n = 3), nonsense (n = 2), and intronic (n = 2) variants and one inframe deletion. …”
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“…The remaining 19 (86.36%) were substitution mutations: 1 nonsense and 18 (81.8%) missense mutations, with G > A (n = 7/19; 36.8%) and C > T (n = 6/19; 31.5%) transitions being the most common. …”
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“…However, the genes in the cancer-associated gene panel with nonsense variants were more than two-fold over-represented in women with BC and commonly involved in the DNA double-strand break repair process. …”
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“…Using our filter, we discovered one nonsense SNV (p.C1451* in CACNA1D), one de novo SNV (p.A36V in CACNA1C), one rare short deletion (p.E1675del in CACNA1D), and 14 NSstrict SNVs (non-synonymous SNV predicted as damaging by all of five in silico analyses). …”
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“…The results showed a significant difference in the NSAA score between the deletion and nonsense groups at the age of 3 years (P = 0.04). No significant correlation was found between the phenotype and exon site. …”
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“…It was found that the frequency of nonsense variants of the ALPL gene was higher (p < 0.0001) in patients with the perinatal form compared to the infantile and childhood forms of HPP. …”
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“…The book is therefore a challenge both to those who think metaphysical knowledge of the ultimate nature of things is possible and to those who regard metaphysics as comprising only pious wishes and rationalizations, “poetry”, "nonsense," and "pseudoproblems." The Prolegomena is, moreover, the best of all introductions to that vast and obscure masterpiece, the Critique of Pure Reason. …”
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“…Going through the proverbial stacks shelf by shelf, Vnuk: Explains why weeding is important for a healthy library, demonstrating that a vibrant collection leads to robust circulation, which in turn affects library budgets Walks readers through a library's shelves by Dewey area, with recommended weeding criteria and call-outs in each area for the different considerations of large collections and smaller collections Features a chapter addressing reference, media, magazines and newspapers, e-books, and other special materials Shows how a solid collection development plan uses weeding as an ongoing process, making it less stressful and more productive Offers guidance for determining how to delegate responsibility for weeding, plus pointers for getting experienced staff on board Gives advice for educating the community about the process, how to head off PR disasters, and what to do with weeded materials Includes a dozen sample collection development plans, easily adaptable to suit a library's individual needs Filled with field-tested, no nonsense strategies, this handbook will enable libraries to bloom by maintaining a collection that users actually use.…”
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“…As you’ve come to expect from Uncle Bob, this book is packed with direct, no-nonsense solutions for the real challenges you’ll face—the ones that will make or break your projects. …”
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“…Whole genome sequencing (WGS) revealed a novel heterozygous nonsense mutation (c.672delG, p.Trp224Ter) in the MLYCD gene of the proband and her father and a novel heterozygous deletion in 5'-UTR-exon1-intron1 of the MLYCD gene of the proband and her mother. …”
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“…CLINICAL DISCUSSION: Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease. …”
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“…The novel mutation (c.1081G>T) led to a termination codon at position 361 and caused nonsense-mediated mRNA decay and lost the function. …”
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“…Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant (LAMA2 NM_000426.3:c.4198C>T) and a novel likely pathogenic variant (LAMA2 NM_000426.3:c.9227_9243dup). …”
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“…In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. …”
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“…Whole-genome sequencing has identified various mutations, including nonsense and missense mutations, from patients with CASK-related disorders, revealing correlations between specific mutations and clinical phenotypes. …”
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“…In this study, we identified and characterized a fascinated and multi-locule fruit (fmf) mutant in Solanum pimpinellifolium background harboring a nonsense mutation in the coding sequence of a zinc finger gene orthologous to SUP. …”
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“…In vivo evolution of the K. pneumoniae sequence type 512 resistome occurred through plasmid loss, outer membrane porin alteration, and a nonsense mutation in the cirA siderophore receptor gene, resulting in high levels of cefiderocol resistance. …”
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“…We discuss the recently discovered functions of the proper regulation of nonsense-mediated mRNA decay, ribosome-associated quality control, and mRNA splicing in the aging of C. elegans. …”
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