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  1. 2421
    “…Molecular analysis revealed the heterozygous nonsense pathogenic variant, c.2557C>T (Arg853Ter) in the NF-κB2 gene. …”
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    Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome
  2. 2422
    “…We also tested chemically-induced single (eIF(iso)4E-S or eIF(iso)4E-T) and double (eIF(iso)4E-S and eIF(iso)4E-T) nonsense mutants for resistance to TBTV-MW. Suppression of eIF(iso)4E-S showed reduced susceptibility, and the resistance of the double mutant tended to be even stronger. eIF(iso)4E mutants also showed reduced susceptibility to TBTV-MW transmitted by aphids. …”
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    Reduced susceptibility to a tobacco bushy top virus Malawi isolate by loss of function in host eIF(iso)4E genes
  3. 2423
    “…RESULTS: The algorithm correctly identified pathogenic ATP7A variants, including missense, nonsense, small insertions/deletions, and large copy number variants, in 21/22 (95.5%) of subjects, one of whom had inconclusive diagnostic sequencing previously. …”
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    Targeted next generation sequencing for newborn screening of Menkes disease
  4. 2424
    “…Six children in Group MS had missense mutations and 7 children in Group NT had null type mutations such as deletions, recombination with the pseudogene, and nonsense mutations. The patients as a whole demonstrated cognitive growth until about 36–42 months of age, followed by a plateau in development. …”
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    Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
  5. 2425
    “…The most common PTEN variants associated with protein loss were p.R130 (n = 4) followed by p.R335, p.L265fs, and deletions (n = 2). All the ten nonsense mutations identified in the samples resulted in PTEN inactivation. …”
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    PTEN Protein Loss and Loss-of-Function Mutations in Gastric Cancers: The Relationship with Microsatellite Instability, EBV, HER2, and PD-L1 Expression
  6. 2426
    “…According to the results, 24 missense mutations, 4 nonsense mutation, 1 entire deletion, 1 intronic mutation, and 4 frameshift mutations in GJB1 were identified. …”
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    Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations
  7. 2427
    “…WES identified compound heterozygous variants in the FBXO7 gene, including a nonsense mutation, p. Trp134*, and a splicing mutation, IVS5‐1G > A, which were shared by both siblings and inherited from each of the parents. …”
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    Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family
  8. 2428
    “…A total of 6 truncating mutations (all nonsense) and 4 missense mutations were detected in a compound heterozygous state, including 4 novel mutations. …”
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    Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
  9. 2429
    “…These SIRT6 mutants ablated the stimulatory effect of SIRT6 on NER and destabilized the genome due to (i) partial loss of enzymatic activity (P27S or H50Y), (ii) a nonsense mutation (R150*) or (iii) high turnover rates (G134W). …”
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    The deacetylase SIRT6 promotes the repair of UV-induced DNA damage by targeting DDB2
  10. 2430
    “…It is predicted to result in a frameshift and a premature stop codon likely triggering nonsense‐mediated mRNA decay. Consequently, it is regarded as pathogenic. …”
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    From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing
  11. 2431
    “…Normal saline, ADMA, nonsense control siRNA, Ddah1 siRNA or Ddah2 siRNA was administered into the kidney through the left ureter in a mouse model of unilateral ureteral obstruction (UUO). …”
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    Renal asymmetric dimethylarginine inhibits fibrosis
  12. 2432
    “…Moreover, morpholinos were used for transient knockdown of its homologue in zebrafish embryo. RESULTS: A nonsense de novo heterozygous variant in ZYG11B, (NM_024646, c.1609G>T, p.Glu537*) was identified in a single OAVS patient. …”
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    Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
  13. 2433
    “…RESULTS: Variants, including six that were novel, were concentrated in the NIPBL (70%), HDAC8 (20%), and SMC3 (10%) genes. We found two nonsense, three splicing, and two deletion variants in NIPBL; a missense variant and an absence variant in HDAC8; and a missense variant in SMC3. …”
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    Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
  14. 2434
    “…Comparative genomics among ST3478 isolates showed similar antibiotic/metal resistance gene repertoires and identical nonsense phsA thiosulfate reductase mutations (related to H(2)S-negative phenotype), besides their close phylogenetic relationship by cgMLST and SNPs. …”
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    Atypical Non-H(2)S-Producing Monophasic Salmonella Typhimurium ST3478 Strains from Chicken Meat at Processing Stage Are Adapted to Diverse Stresses
  15. 2435
    “…Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old boy with unique novel clinical features. …”
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    PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development
  16. 2436
    “…To address this, we characterized neurophysiological features in a mouse model of RTT containing a knock-in nonsense mutation (p.R255X) in the Mecp2 locus. We found a variety of changes in heterozygous female Mecp2(R255X/X) mice including age-related changes in sleep/wake architecture, alterations in baseline EEG power, increased incidence of spontaneous epileptiform discharges, and changes in auditory evoked potentials. …”
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    Detection of neurophysiological features in female R255X MeCP2 mutation mice
  17. 2437
    “…Two compound, heterozygous ERCC excision repair 6, chromatin remodelling factor (ERCC6) gene mutations were detected in the proband by WES and confirmed by Sanger sequencing, comprising a known paternal nonsense mutation (c.643G > T, p.E215X) and a novel maternal short insertion and deletion mutation (c.1614_c.1616delGACinsAAACGTCTT, p.K538_T539delinsKNVF). …”
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    Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
  18. 2438
    “…Through whole-exome sequencing from three affected individuals, we identified a nonsense mutation c.3526C>T in TRPM7 that encodes a cation channel selective to Ca(2+) and Mg(2+). …”
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    TRPM7 as a Candidate Gene for Vestibular Migraine
  19. 2439
    “…METHODS: We tested the prevalence of NTHL1 nonsense variant c.268C>T, p.Q90*, which is the major allele in NTHL1 families and also shows enrichment in the Finnish population, in a total of 1333 breast cancer patients. …”
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    Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition
  20. 2440
    “…Chemicals that affect the accuracy of stop codon recognition are promising drugs for the nonsense suppression therapy of hereditary diseases and restoration of tumor suppressor function in cancer cells. …”
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    A Quick Guide to Small-Molecule Inhibitors of Eukaryotic Protein Synthesis
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