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  1. 3601
    “…Genetic investigation of the available family members of the proband demonstrated that the truncating mutation co-segregated with CHD. The nonsense mutation was not observed in 400 unrelated volunteers without CHD who were enrolled as control subjects. …”
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    A novel KLF13 mutation underlying congenital patent ductus arteriosus and ventricular septal defect, as well as bicuspid aortic valve
  2. 3602
    “…In five rare GCKR exonic non-synonymous or nonsense mutations available for analysis, GCKR rs146175795 showed an independent association with serum triglyceride and albumin levels and rs150673460 showed an independent association with serum triglyceride levels. …”
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    Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits
  3. 3603
    “…The number of candidate neoantigens was positively correlated with missense mutations, code shift insertions/deletions, split-site variations, and nonsense mutations. However, in the multiple linear regression analysis, only missense mutations were positively correlated with the number of neoantigens. …”
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    Characterization of Somatic Mutations That Affect Neoantigens in Non-Small Cell Lung Cancer
  4. 3604
    “…Moreover, MSI + (microsatellite instability) tumors frequently harbor a nonsense, heterozygous mutation in the ATR gene. Using isogenic HCT116 clones, we showed that this mutation of ATR sensitizes the cells to several drugs, including SN-38 (topoisomerase I inhibitor) and VE-822 (ATR inhibitor) and exacerbates their synergistic effects. …”
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    A clinically relevant heterozygous ATR mutation sensitizes colorectal cancer cells to replication stress
  5. 3605
    “…Our preliminary study indicates that MMP2 might play a role in the nonsense-mediated mRNA decay pathway that prevents activation of unfolding protein response under innocuous endoplasmic reticulum stress. …”
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    Targeting matrix metallopeptidase 2 by hydroxyurea selectively kills acute myeloid mixed-lineage leukemia
  6. 3606
    por You, Hyelin, Sierpina, David
    Publicado 2022
    “…Heterozygous variants in the RDH5 gene were identified, including a novel missense variant, c.814_815del (p.Leu272Aspfs(∗)63), and a known pathogenic nonsense variant, c.160C > T (p.Arg54(∗)). Fundus autofluorescence demonstrated bull's eye maculopathy and hyperautofluorescent perifoveal rings bilaterally. …”
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    A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy
  7. 3607
    “…Previous studies reported that the Arg95Ter nonsense variant of GPR151, an orphan G protein-coupled receptor, is associated with reduced BMI and reduced risk of Type 2 Diabetes (T2D). …”
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    Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index
  8. 3608
    “…Molecular genetic analysis by exome sequencing identified a novel hemizygous MAGT1 nonsense mutation c.1005T>A (NM_032121.5) p.(Cys335*), confirming a diagnosis of XMEN deficiency. …”
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    Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease
  9. 3609
    “…Single-nucleotide variants (SNVs) including missense substitutions that occur in the highly conserved DNA binding domain of the protein are the most common alterations, followed by nonsense and splice site variants. Gross copy-number changes in TP53 are rare and account for <1% of all variants. …”
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    A novel TP53 tandem duplication in a child with Li–Fraumeni syndrome
  10. 3610
    “…Mechanistically, SRSF3 stabilizes the mRNA of TDP43 by inhibiting nonsense-mediated decay (NMD). These findings illustrate the important role of complicated regulatory networks formed by splicing factors in TNBC progression, thus providing potential therapeutic targets from an AS perspective.…”
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    TDP43 promotes stemness of breast cancer stem cells through CD44 variant splicing isoforms
  11. 3611
    “…Genetic diseases are often caused by nonsense mutations, but only one TRID (translation readthrough inducing drug), ataluren, has been approved for clinical use. …”
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    Ataluren binds to multiple protein synthesis apparatus sites and competitively inhibits release factor-dependent termination
  12. 3612
    “…Part of an Alu element in the second intron of SELENON pre-mRNA is frequently exonized during splicing, resulting in an aberrant mRNA that is degraded by nonsense-mediated mRNA decay (NMD). In the middle stage of myoblast differentiation, ADAR1-mediated A-to-I RNA editing occurs in the U1 snRNA binding site at 5′ splice site, preventing Alu exonization and producing mature mRNA. …”
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    Regulation of A-to-I RNA editing and stop codon recoding to control selenoprotein expression during skeletal myogenesis
  13. 3613
    “…The pathogenic variant sites were mainly concentrated in exon 3, and truncating mutations (including frameshift mutations and nonsense mutations) were the most common genetic variant types (5/7, 71.4%). …”
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    Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients
  14. 3614
    por Bai, Fei, He, Zhuo, Zhou, Huijun, Gan, Wei
    Publicado 2022
    “…METHODS: A total of 160 surgical GC patients were reviewed, with their tumor and adjacent tissues acquired for immunohistochemical (IHC) assay to measure KIF2A expression, then scored by a semi‐quantitative method (IHC score: 0–12). KIF2A siRNA or nonsense‐siRNA were transfected into HGC‐27 and NCI‐N87 cells underwent various concentrations of capecitabine or oxaliplatin treatment followed by chemosensitivity assessment. …”
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    Kinesin family member 2A links with advanced tumor stage, reduced chemosensitivity and worse prognosis in gastric cancer
  15. 3615
    por Langley, Paul C
    Publicado 2021
    “…It justifies its cost-per-QALY framework by maintaining3, through unsubstantiated assertions, that it meets standards for scientific credibility; it denies the possibility of negative values and utilities which undercut completely the construction of QALYs. This is nonsense: not only does the ICER framework fail those standards, to include axioms of fundamental measurement, but also a simple rule of logic in basing its models on assumptions. …”
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    Supping with the Devil: Belief and the Imaginary World of Multiple Myeloma Therapies Invented by the Institute for Clinical and Economic Review
  16. 3616
    “…The twitcher mouse, the most used animal model, has a nonsense mutation, which limits the study of how different mutations impact the processing and activity of GALC enzyme. …”
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    CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease
  17. 3617
    “…We identified homozygous nonsense variants, c.97C>T; p.(Gln33*) in family 1 and c.850C>T; p.…”
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    Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
  18. 3618
    “…These differences were even more obvious upon inhibition of nonsense-mediated decay with cycloheximide. CONCLUSIONS: We report a heterozygous complex allele in IMPG2 causative for adult-onset vitelliform macular dystrophy in two unrelated individuals with mild visual loss and bilateral vitelliform lesions. …”
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    Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
  19. 3619
    “…Leukocyte DNA was used for WGS analysis, and this revealed a homozygous c.226C > T (p.Arg76Ter) nonsense CLCNKB mutation, thereby establishing a diagnosis of BS type-3. …”
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    The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
  20. 3620
    “…The patient was found to have a homozygous nonsense mutation (c.901C>T, R301X) in the SLC2A2 gene. …”
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    Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient
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