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  1. 1401
    “…Similarly, RNF43 nonsense/frameshift mutations were more frequently observed in RCRC compared with LCRC in the TCGA cohort (P=0.042). …”
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    RNF43 mutation is associated with aggressive tumor biology along with BRAF V600E mutation in right-sided colorectal cancer
  2. 1402
    “…Five previously reported mutations were identified in this study patients: one splice site mutation, c.240 + 1G > A; two missense mutations, p.R88P and p.G94D; a large deletion of exon 1 to exon 7; and one nonsense mutation, p.Q396*. In addition, two novel alterations were identified in the MPS II patients: one frame shift mutation, p.D450Nfs*95 and one nonsense mutation, p.Q204*. …”
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    The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
  3. 1403
    “…RESULTS: One synonymous mutation c.G2598A (in exon 26), one nonsense mutation c.C635A and two missense mutations c.C1286A (p.A429D) and c. …”
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    Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease
  4. 1404
    “…In addition, 28 SNPs were predicted as “stop gained” nonsense SNPs and one SNP was predicted as “start lost”. …”
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    Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach
  5. 1405
    “…Mutations related to energy conservation, membrane biogenesis, and mitigating the impact of nonsense mutations, both ancestral and derived, arose later. …”
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    Evolutionary dynamics and structural consequences of de novo beneficial mutations and mutant lineages arising in a constant environment
  6. 1406
    “…Four individuals, with abnormal splicing causing a premature stop codon and nonsense-mediated decay, expressed remnant levels of normally spliced DMD mRNA. …”
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    WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
  7. 1407
    “…However, not all sheep breeds suffering from yellow fat have this nonsense mutation, meaning that other functional mechanisms must exist. …”
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    Insertion of an endogenous Jaagsiekte sheep retrovirus element into the BCO2 - gene abolishes its function and leads to yellow discoloration of adipose tissue in Norwegian Spælsau (Ovis aries)
  8. 1408
    “…In HPPD gene, eleven variants in 16 patients have been reported including 7 missense variants, 2 nonsense variants, 1 splice defect, and 1 frameshift variant so far. …”
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    The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
  9. 1409
    por Alhozali, Hanadi
    Publicado 2023
    “…Further genetic testing revealed a homozygous novel nonsense mutation in the HPS6 gene. Additionally, a heterozygous variant of uncertain significance was identified in the HPS5 gene. …”
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    Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
  10. 1410
    “…Transcripts from these genes have premature termination codons (PTCs) and could encode truncated proteins if they are not either inactivated or destroyed by nonsense-mediated decay (NMD). In mammalian cells, NMD can be activated by pathways that rely on the presence of an intron downstream of the PTC; however, NMD can also be activated by pathways that do not rely on these downstream introns, and pathways independent of NMD can inactivate PTC-containing transcripts. …”
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    Out-of-Frame T Cell Receptor Beta Transcripts Are Eliminated by Multiple Pathways In Vivo
  11. 1411
    “…Frequently mentioned symptoms of mental illness were talking nonsense, talking/laughing alone and wandering. Pressure/stress and studying/thinking too much were often identified causes. …”
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    Perceptions of Mental Health and Help-Seeking Behavior in an Urban Community in Vietnam: An Explorative Study
  12. 1412
    “…Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all of the affected individuals in the family, but not in the nonaffected members. …”
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    UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
  13. 1413
    “…Here we describe healthy non-transgenic animals, Norwegian Dairy Goats, lacking prion protein due to a nonsense mutation early in the gene. These animals are predicted to be resistant to prion disease and will be valuable for research and for production of prion-free products.…”
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    Healthy goats naturally devoid of prion protein
  14. 1414
    “…In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first description of molecular mechanisms underlying SEC23B hypomorphic genotypes by the analysis of five novel mutations. …”
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    Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
  15. 1415
    “…We also demonstrated that efficiency of nonsense suppression depends greatly on the nucleotide following the stop codon. …”
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    Enhanced Yield of Recombinant Proteins with Site-Specifically Incorporated Unnatural Amino Acids Using a Cell-Free Expression System
  16. 1416
    “…The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. …”
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    Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
  17. 1417
    por Spector, Ferrinne, Maurer, Daphne
    Publicado 2013
    “…In this study, we investigated the influence of vowels on sound–shape matching in toddlers, using four contrasting pairs of nonsense words differing in vowel sound (/i/ as in feet vs. …”
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    Early sound symbolism for vowel sounds
  18. 1418
    “…Fidelity of ME splicing relies at least in part on nonsense-mediated mRNA decay for 14 clusters. These results thus characterize all the repertoires of ME splicing in this organism.…”
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    Comprehensive analysis of mutually exclusive alternative splicing in C. elegans
  19. 1419
    “…We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. …”
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    A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred
  20. 1420
    “…Sound-shape associations involving consistent matching of nonsense words such as ‘bouba’ and ‘kiki’ with curved and angular shapes, respectively, have been replicated in several studies. …”
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    The Bouba-Kiki Phenomenon Tested via Schematic Drawings of Facial Expressions: Further Validation of the Internal Simulation Hypothesis
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