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  1. 1541
    “…In this study, we used whole exome sequencing to identify a novel nonsense mutation in ANK1 (p.Q1772X, NM_020476) that resulted in a truncated protein in a Korean patient with HS. …”
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    Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis
  2. 1542
    por Hug, Nele, Cáceres, Javier F.
    Publicado 2014
    “…Nonsense-mediated decay (NMD) is a surveillance mechanism that degrades aberrant mRNAs. …”
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    The RNA Helicase DHX34 Activates NMD by Promoting a Transition from the Surveillance to the Decay-Inducing Complex
  3. 1543
    “…We report here a case of diazoxide-resistant CHI due to homozygous ABCC8 nonsense mutation. In this case, hypoglycaemia uncontrolled by pancreatectomy and octreotide alone showed a good response to a combination of nifedipine and octreotide. …”
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    Nifedipine in Congenital Hyperinsulinism- A Case Report
  4. 1544
    “…DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X. CONCLUSIONS: In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.…”
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    Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
  5. 1545
    “…PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757(⁎)); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein. …”
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    Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5
  6. 1546
    “…We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C>T (p.Q117*).…”
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    A novel FOXC2 mutation in spinal extradural arachnoid cyst
  7. 1547
    “…We report the identification of inherited compound heterozygous mutations, including a novel nonsense mutation in PROC, and a prenatal genetic test for a subsequent pregnancy. …”
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    Prenatal genetic testing for familial severe congenital protein C deficiency
  8. 1548
    “…Nonsense mutations generate in-frame stop codons in mRNA leading to a premature arrest of translation. …”
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    Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae
  9. 1549
    “…Filaggrin expression levels in NHEKs were knocked down by lentivirus (LV) encoding small hairpin RNA (shRNA), with control cells infected with nonsense shRNA or not infected. Cell migration and invasion were assayed using Transwell inserts, cell adhesion and proliferation by the Cell Counting kit-8 assay, and apoptosis and cell cycle progression by flow cytometry. shRNA efficiently suppressed expression of filaggrin protein. …”
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    Dysregulated function of normal human epidermal keratinocytes in the absence of filaggrin
  10. 1550
    “…Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. …”
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    Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis
  11. 1551
    por Lu, Jun, Mo, Guiling, Ling, Yaojun, Ji, Lijuan
    Publicado 2016
    “…A diagnosis of KS was confirmed by genetic testing, which revealed a nonsense mutation in exon 16 of KMT2D (c.4485C>A, Tyr1495Ter). …”
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    A novel KMT2D mutation resulting in Kabuki syndrome: A case report
  12. 1552
    “…As tumor-specific somatic mutations, we identified 81 candidate genes, including 4 nonsense changes, 68 missense changes and 9 insertions/deletions. …”
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    Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
  13. 1553
    “…The approach relies on an improved technique for nonsense suppression with in vitro misacylated orthogonal tRNA. …”
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    Cellular encoding of Cy dyes for single-molecule imaging
  14. 1554
    “…Results: We identified a homozygous nonsense mutation in the last exon of MYO18B, leading to a truncated protein lacking the most C-terminal part. …”
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    A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
  15. 1555
    “…A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome.…”
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    Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection
  16. 1556
    “…Decapping proteins participate in mRNA turnover and nonsense mediated decay (NMD). NoBody localizes to mRNA decay-associated RNA-protein granules called P-bodies. …”
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    A human microprotein that interacts with the mRNA decapping complex
  17. 1557
    “…Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys.…”
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    SPG20 mutation in three siblings with familial hereditary spastic paraplegia
  18. 1558
    por Balagopal, Vidya, Beemon, Karen L.
    Publicado 2017
    “…In the case of Rous sarcoma virus (RSV), there is a 7 kb 3′UTR downstream of the gag terminator, containing the pol, env, and src genes. mRNAs containing long 3′UTRs, like those with premature termination codons, are frequently recognized by the cellular nonsense-mediated mRNA decay (NMD) machinery and targeted for degradation. …”
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    Rous Sarcoma Virus RNA Stability Element Inhibits Deadenylation of mRNAs with Long 3′UTRs
  19. 1559
    “…Whole genome resequencing of the human fungal pathogen Cryptococcus deuterogattii identified an outbreak lineage characterized by a nonsense mutation in the mismatch repair component MSH2. …”
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    Natural mismatch repair mutations mediate phenotypic diversity and drug resistance in Cryptococcus deuterogattii
  20. 1560
    “…OpenDyslexic was compared to Arial and Times New Roman in three reading tasks: (a) letter naming, (b) word reading, and (c) nonsense word reading. Data were analyzed through visual analysis and improvement rate difference, a nonparametric measure of nonoverlap for comparing treatments. …”
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    The effect of a specialized dyslexia font, OpenDyslexic, on reading rate and accuracy
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