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  1. 1001
    “…We considered novel nonsense variant c.2440C > T(p.Arg814*) in X-linked gene ADGRG2 as biologically most plausible. …”
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    X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family
  2. 1002
    “…Athletes’ genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-athletes’ exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. …”
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    Whole genome sequencing of elite athletes
  3. 1003
    por Trout, Jack
    Publicado 1999
    Libro
    El poder de la simplicidad en los negocios : una guía de manejo de negocios para eliminar lo absurdo y hacer las cosas bien /
  4. 1004
    “…CONCLUSIONS: Taken together, our findings suggest that PTC readthrough may be a potential therapeutic strategy for FTLD caused by GRN nonsense mutations.…”
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    Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency
  5. 1005
    por Harvey, Molly
    Publicado 2012
    “…Molly is known for her no-nonsense, thought provoking approach and for speaking from the heart and through personal experience. …”
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    Outstanding leadership
  6. 1006
    “…Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.…”
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    X-linked intellectual disability related to a novel variant of KLHL15
  7. 1007
    “…This nonsense mutation is suspected a de novo germline mutation since both parents are negative for the mutation. …”
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    Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome
  8. 1008
    “…Such mutations should lead to mRNA degradation owing to nonsense-mediated mRNA decay or the production of severely truncated proteins. …”
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    Frameshift indels introduced by genome editing can lead to in-frame exon skipping
  9. 1009
    “…This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.…”
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    A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
  10. 1010
    “…Finally, we find that smg-6 and smg-7, which are genes governing selection and turnover of nonsense-mediated decay targets, are required for increased life span under DR.…”
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    Dietary restriction induces posttranscriptional regulation of longevity genes
  11. 1011
    “…How RNA surveillance pathways cooperate to control the noise from nonproductive Ig genes will be discussed in this review, focusing on the benefits of nonsense-mediated mRNA decay (NMD) activation during B-cell development and detrimental effects of nonsense-associated altered splicing (NAS) in terminally differentiated plasma cells.…”
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    The Yin and Yang of RNA surveillance in B lymphocytes and antibody-secreting plasma cells
  12. 1012
    “…We succeeded by performing a plasmid mRNA-specific reverse transcription, and the plasmid cDNA was additionally tagged with a nonsense tail. A subsequent standard qPCR was conducted using appropriate PCR primers annealing to the plasmid cDNA and to the nonsense tail. …”
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    Analysis of the Level of Plasmid-Derived mRNA in the Presence of Residual Plasmid DNA by Two-Step Quantitative RT-PCR
  13. 1013
    “…The main hypothesis was that the use of spatial language affected more landmark-based topographical working memory than both the verbalization of nonsense syllables and other types of interference. …”
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    Chatting While Walking Does Not Interfere with Topographical Working Memory
  14. 1014
    “…Word learning was directly predicted by nonsense sentence repetition accuracy. It was also predicted by temporal pattern STM. …”
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    Short-Term Memory for Auditory Temporal Patterns and Meaningless Sentences Predicts Learning of Foreign Word Forms
  15. 1015
    “…The top and second-most prevalent p53 mutations are missense and nonsense mutations, respectively. In this review, we discuss possible drug therapies for nonsense mutation and a missense mutation in p53. p63 and p73 activators may be able to replace mutant p53 and act as anti-cancer drugs. …”
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    P63 and P73 Activation in Cancers with p53 Mutation
  16. 1016
    “…We reported a novel nonsense mutation in FYCO1 (c.1411C > T, P. R471 ∗), which could cause nonsyndrome autosomal recessive congenital cataract. …”
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    A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family
  17. 1017
    “…We identified in the LDHA gene a homozygous c.410C>A substitution that predicts a p.Ser137Ter nonsense mutation in Patient One and a compound heterozygous c.410C>A (p.Ser137Ter) and c.750G>A (p.Trp250Ter) nonsense mutation in Patient Two. …”
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    Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
  18. 1018
    por Petsko, Gregory A
    Publicado 2008
    “…It doesn't serve science well to drift towards a Manichaean view by calling religion 'nonsense'. People of faith may be the natural allies of biologists when it comes to matters of conservation and climate protection.…”
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    The new Manichaeans
  19. 1019
    “…We also identified the predictive value of ASXL1 mutations (frameshift and nonsense mutations) through comparing the Mayo Prognostic Model with the Mayo Molecular Model. …”
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    Impact of TET2, SRSF2, ASXL1 and SETBP1 mutations on survival of patients with chronic myelomonocytic leukemia
  20. 1020
    “…We identified six frameshift variants and two nonsense variants that were exclusively present in patients. …”
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    A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
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