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  1. 4041
    “…In vitro aminoglycoside antibiotics (e.g. gentamicin) suppress nonsense mutations located in CFTR permitting translation to continue to the natural termination codon. …”
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    In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study
  2. 4042
    “…Fifty-four (78%) of these mutations were missense point mutations, one was a nonsense mutation and four were deletions and/or insertions causing disruption of the protein reading frame, whereas four mutations were either silent or a polymorphism (at codon 213; n = 6). …”
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    Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer.
  3. 4043
    “…We identified only two sib pairs (1.4% of our families) cosegregating conspicuous RNASEL variants with prostate cancer: the nonsense mutation E265X, and a new amino-acid substitution (R400P) of unknown functional relevance. …”
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    Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene
  4. 4044
    “…DNA sequencing of genes in this region revealed a nonsense mutation in the first exon of H6 Homeobox 1 (Hmx1; also Nkx5-3). …”
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    Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass
  5. 4045
    “…Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. …”
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    GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
  6. 4046
    “…In addition, they all had a common deletion of the last base G of codon 249 (AGG to AG_) of the p53 gene, which resulted in generation of its nonsense gene product. Transplanted cells in nude mice formed subcutaneous tumors, which had histological features of squamous cell carcinoma with apparent keratinizing tendencies. …”
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    Establishment and characterization of pleomorphic adenoma cell systems: an in-vitro demonstration of carcinomas arising secondarily from adenomas in the salivary gland
  7. 4047
    “…Any p53 mutation and missense mutations, but not p53 protein overexpression, were associated with breast cancer-specific mortality (hazard ratio [HR]= 1.7, 95% CI = 1.0–2.8; HR = 2.0, 95% CI = 1.1–3.6, respectively) and all-cause mortality (HR = 1.5, 95% CI = 1.0–2.4; HR = 2.0, 95% CI = 1.2–3.4, respectively); nonsense mutations were associated only with breast cancer-specific mortality (HR = 3.0, 95% CI = 1.1–8.1). …”
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    Mutations in p53, p53 protein overexpression and breast cancer survival
  8. 4048
    “…Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. …”
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    Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents
  9. 4049
    “…This mutation, however, showed reduced penetrance in the family, which might be explained by different molecular consequences in the affected family members: nonsense-mediated decay of the mutated mRNA might have no clinical phenotype in heterozygotes, whereas the translation of the mutated mRNA is predicted to lead to a small hybrid protein (consisting of 16 amino acids of the βB2-crystallin and 18 new amino-acids), which might have a dominant-negative function in the lens. …”
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    Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms
  10. 4050
    “…The above findings meant that a nonsense mutation, a frameshift mutation, or an exonic mutation leading to abnormal splicing was found in every patient. …”
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    Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis
  11. 4051
    “…Interestingly, AtPS1 encodes a protein with a FHA domain and PINc domain putatively involved in RNA decay (i.e. Nonsense Mediated mRNA Decay). In potato, 2n pollen depending on parallel spindles was described long time ago but the responsible gene has never been isolated. …”
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    Evolution of Parallel Spindles Like genes in plants and highlight of unique domain architecture(#)
  12. 4052
    “…Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. …”
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    Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
  13. 4053
    “…As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. …”
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    An ELISA-based high throughput protein truncation test for inherited breast cancer
  14. 4054
    “…In a total of 121 unique single-nucleotide polymorphisms (SNP) detected, no frameshift mutations were identified and only one nonsense mutation within blaZ was found in a MRSA strain. …”
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    Evidence for a purifying selection acting on the β-lactamase locus in epidemic clones of methicillin-resistant Staphylococcus aureus
  15. 4055
    “…This scepticism is supported by database investigations showing that retention of the wild-type allele occurs with the same frequency as either nonsense or missense TP53 mutations.…”
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    Limited importance of the dominant-negative effect of TP53 missense mutations
  16. 4056
    “…Further, it had been shown that expression of the Ch14UreF ORF complemented a fungal ureF mutant. A third, nonsense (Q2*) allelic mutant, eu2-c, exhibited 5- to 10-fold more residual urease activity than missense eu2-a or eu2-b, though eu2-c should lack all Ch02UreF protein. …”
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    Mutational analysis of the major soybean UreF paralogue involved in urease activation
  17. 4057
    “…The largest decrease was observed in compound heterozygote patients with missense/nonsense mutations. In three patients, Sec23B protein levels were evaluated in erythroid precursors and found to be strictly correlated with the reduction observed at the transcript level. …”
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    Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
  18. 4058
    “…Identified missense or nonsense (MS/NS) mutations were examined for association with LVMHT using linear mixed models adjusted for age, sex, body weight, and familial relationship. …”
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    Whole-exome Sequencing and an iPSC-Derived Cardiomyocyte Model Provides a Powerful Platform for Gene Discovery in Left Ventricular Hypertrophy
  19. 4059
    “…METHODS: The KAD rat has been developed by the ENU mutagenesis and carries a homozygous nonsense mutation in the Apc gene (S2523X). Male KAD rats were given a single subcutaneous injection of AOM (20 mg/kg body weight) at 5 weeks of age. …”
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    Use of a chemically induced-colon carcinogenesis-prone Apc-mutant rat in a chemotherapeutic bioassay
  20. 4060
    “…We previously reported that nonsense-mediated mRNA decay (NMD) could lead to DASE of BRCA1/2, which is associated with elevated susceptibility to breast cancer. …”
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    Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome
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