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  1. 2141
    “…Of these variants, the nonsense mutation (p.Tyr291*) in NOTCH1 was the most deleterious variant identified and the most likely variant causing the disease. …”
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    Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis
  2. 2142
    por Fujimura, Masatake, Usuki, Fusako
    Publicado 2020
    “…Furthermore, MeHg-induced intracellular selenium deficiency due to the greater affinity of MeHg for selenohydryl groups and selenides leads to failure in the recoding of a UGA codon for selenocysteine and results in the degradation of antioxidant selenoenzyme mRNA by nonsense-mediated mRNA decay. The defect of antioxidant selenoenzyme replenishment exacerbates MeHg-mediated oxidative stress. …”
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    Methylmercury-Mediated Oxidative Stress and Activation of the Cellular Protective System
  3. 2143
    “…AIM: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). …”
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    Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
  4. 2144
    “…Five de novo variants of WDR45 including four novel truncating variants (one splicing variant, two nonsense variants, and one frameshift variant) were identified. …”
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    De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
  5. 2145
    “…Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). …”
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    A novel GABRB3 variant in Dravet syndrome: Case report and literature review
  6. 2146
    por Li, Meng-Zhu, Yuan, Lin, Zhuo, Zhi-Qiang
    Publicado 2020
    “…Gene detection showed a heterozygous mutation of c.4537C>T in the NF1 gene, leading to a nonsense mutation of amino acids (p.R1513x), which originated from the mother of the infant. …”
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    Gene diagnosis of infantile neurofibromatosis type I: A case report
  7. 2147
    “…Many pathogenic variants result in a null allele due to nonsense, frameshift or splicing defects however, the missense variants that do occur tend to induce substitutions at highly conserved residues in regions of the proteins that are critical for binding to other subunits or substrates. …”
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    The genetic basis of isolated mitochondrial complex II deficiency
  8. 2148
    “…In addition to the congenital hearing loss of most affected family members, progressive hearing loss was also found in some WS2 patients. A nonsense mutation of c.328C>T (p.R110X) in MITF was identified in all affected family members. …”
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    A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
  9. 2149
    “…She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. …”
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    Hereditary Fructose Intolerance Diagnosed in Adulthood
  10. 2150
    “…We present the first report of two unrelated patients with the homozygous nonsense variant c.244C>T(p. Arg82*) in COX16 with hypertrophic cardiomyopathy, encephalopathy and severe fatal lactic acidosis, and isolated complex IV deficiency. …”
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    A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
  11. 2151
    “…(Asn637MetfsTer15)) in the patient, which may lead to blockage of the ASPH function through truncating the AspH oxygenase domain of the ASPH protein and/or nonsense‐mediated decay of the ASPH transcript. This is the first report of Traboulsi syndrome in a Chinese patient who was combined with ventricular septal defect, lung bullae, and recurrent spontaneous pneumothorax. …”
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    Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family
  12. 2152
    “…The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X). The prevalence of the 577X allele increased as modern humans moved to colder climates, suggesting a link between α-actinin-3 deficiency and improved cold tolerance. …”
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    Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation
  13. 2153
    “…Additionally, we show that 86% of the mutations identified at the DNA level are also detectable at the messenger RNA (mRNA) level, except for nonsense mutations that are subjected to mRNA decay. …”
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    Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies
  14. 2154
    “…The BO-FR-1 genome differed from KKBO-1 by a single nonsense mutation into the wbaP gene, which encodes a glycosyltransferase involved in the first step of the biosynthesis of the capsular polysaccharide (CPS). …”
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    Phage Resistance Is Associated with Decreased Virulence in KPC-Producing Klebsiella pneumoniae of the Clonal Group 258 Clade II Lineage
  15. 2155
    “…Exome sequencing identified a homozygous nonsense variant in GAMT: NM_000156.5:c.134G>A (p.Trp45*). …”
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    Adult GAMT deficiency: A literature review and report of two siblings
  16. 2156
    “…Because a high proportion of PCD-causing variants are nonsense mutations, readthrough therapies are an attractive option. …”
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    Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia
  17. 2157
    “…Results: A total of 31 somatic mutations, including 22 missense, 3 nonsense, and 6 frameshift mutations, were detected in 17 samples. …”
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    Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients
  18. 2158
    “…This frameshift creates a premature termination codon in the last coding exon which escapes the nonsense-mediated decay mechanism, according to in silico analysis. …”
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    The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
  19. 2159
    por Langley, Paul C
    Publicado 2020
    “…From the manufacturer’s perspective, in this case Vertex Pharmaceuticals who have developed all the cystic fibrosis therapies ‘modeled’ by the ICER contractor, their response to ICER claims should be to reject them out of hand; the constructs are imaginary and the outcome claims nonsense.…”
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    More Unnecessary Imaginary Worlds – Part 3: Cystic Fibrosis and the Institute for Clinical and Economic Review’s Draft Evidence Report
  20. 2160
    “…Top-down proteomics enables large-scale analysis of intact proteoforms derived from alternative splicing, missense or nonsense genetic variants or PTMs. In contrast to current gold standard techniques, top-down proteomics permits a more in-depth analysis of protamine PTMs and proteoforms, thereby opening up new perspectives to unravel their impact on male fertility. …”
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    Protamine Characterization by Top-Down Proteomics: Boosting Proteoform Identification with DBSCAN
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