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  1. 1081
    “…A well-known example of these diseases is cystic fibrosis (CF), where approximately 10% (worldwide) of patients have nonsense mutations in the CF transmembrane regulator (CFTR) gene. …”
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    Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay
  2. 1082
    “…Various genetic traits can be determined including resistance to norovirus through a nonsense mutation (G428A) in the FUT2 gene. Although this trait is believed to confer resistance to the most dominant norovirus genotype (GII.4), the spectrum of resistance to other norovirus strains is unknown. …”
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    Personalized genetic testing and norovirus susceptibility
  3. 1083
    “…Two previously reported nonsense mutations were also found: c.482C>A, c.830G>A. …”
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    PAX6 gene variations associated with aniridia in south India
  4. 1084
    “…Similarly, the mutations resulting in the lack of protein (e.g., nonsense mutations or whole gene deletions) of several tumor suppressor genes (TSGs) were more frequently observed in vitro than in vivo. …”
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    Different mutational characteristics of TSG in cell lines and surgical specimens
  5. 1085
    “…Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3′UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p < 0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3′UTR variant g.9798848G>A. …”
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    OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data
  6. 1086
    por Goodeve, A. C.
    Publicado 2015
    “…Inhibitors also occur in patients with nonsense mutations, occasionally in patients with small insertions/deletions or splice mutations, and rarely in patients with missense mutations (p.Gln237Lys and p.Gln241His). …”
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    Hemophilia B: molecular pathogenesis and mutation analysis
  7. 1087
    “…Retroviruses expressing a fluorescent protein, Cas9, and a small guide RNA are used to mimic nonsense PTEN mutations from autism patients in developing mouse neurons. …”
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    A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons
  8. 1088
    “…The other novel compound heterozygous missense mutation (c.3119 T>A (p.L1040H)), which was previously reported as nonsense c.3484C>T (p.R1162X) mutation, was found in exon 19 in patient screening. …”
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    Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
  9. 1089
    “…Most TMAuria cases are caused by missense mutations, but nonsense mutations have also been reported in these cases. …”
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    A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
  10. 1090
    “…Further, overexpression of the ARGLU1 protein shifted the splicing of endogenous ARGLU1 mRNA, resulting in an increase in the retained intron isoform and nonsense mediated decay susceptible isoform and a decrease in the fully spliced isoform. …”
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    An Ultraconserved Element (UCE) controls homeostatic splicing of ARGLU1 mRNA
  11. 1091
    “…We used an implicit sequence learning paradigm (an “artificial grammar”) in which humans and monkeys were exposed to sequences of nonsense words with regularities in the ordering relationships between the words. …”
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    Sequence learning modulates neural responses and oscillatory coupling in human and monkey auditory cortex
  12. 1092
    “…The nonsense mutation truncates the transmembrane protein within the membrane-spanning domain, expected to cause a dysfunctional protein. …”
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    A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken
  13. 1093
    por Fang, Xiaokai, Sun, Yonghu
    Publicado 2019
    “…CONCLUSION: A novel XPV pathogenic homozygous nonsense mutation in the POLH gene was identified. …”
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    Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum
  14. 1094
    “…Telomere maintenance 2 (TELO2)–interacting protein 2 (TTI2) interacts with TTI1 and TELO2 to form the Triple T complex, which is required for various cellular processes, including the double-strand DNA break response, nonsense-mediated mRNA decay, and telomerase assembly. …”
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    Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
  15. 1095
    “…Recurrent homozygous VWF c.4696C>T (p.Arg1566Ter) nonsense mutation was identified in the female patient, and novel homozygous VWF c.6450C>A (p.Cys2150Ter) nonsense mutation was identified the male patient. …”
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    Two cases of von Willebrand disease type 3 in consanguineous Chinese families
  16. 1096
    “…RESULTS: Sequence analysis revealed a rare novel nonsense variant, p.(Trp320*); c.905G>A, in the CTSK gene (NM_000396.3). …”
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    Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
  17. 1097
    “…RESULTS: WES analysis revealed a novel homozygous nonsense mutation in lysine 2 of fetuin-A, encoded by the ALPHA-2-HS-GLYCOPROTEIN (AHSG) gene (c.A4T; p.K2X). …”
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    Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)
  18. 1098
    “…OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. METHODS: The patient was clinically investigated at 3, 5, 9, and 25 years of age. …”
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    COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation
  19. 1099
    “…Analysis of read-through mechanics with CTELS revealed a transient stalling event at a “leaky” stop codon context, which likely defines the basis of nonsense suppression.…”
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    CTELS: A Cell-Free System for the Analysis of Translation Termination Rate
  20. 1100
    “…(Gln2943*)) in BRCA2 gene, which was a nonsense mutation that predicted disrupting peptide chain synthesis and limiting BRCA2 protein production, validated by the decreased expressions of both BRCA2 mRNA and BRCA2 protein. …”
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    BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer
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