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  1. 981
    “…Nonsense mutations trigger premature translation termination and often give rise to prevalent and rare genetic diseases. …”
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    Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond
  2. 982
    “…The results show a strong correlation between critical flicker fusion thresholds and scores on the reading-word, nonsense-word, and non-linguistic decoding measures. …”
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    Word-Decoding as a Function of Temporal Processing in the Visual System
  3. 983
    por KARIJOLICH, JOHN, YU, YI-TAO
    Publicado 2014
    “…Several of these agents have proved their effectiveness at promoting nonsense suppression in preclinical animal models, as well as in clinical trials. …”
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    Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)
  4. 984
    “…Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. …”
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    First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
  5. 985
    por Herrera, Leslie A., Starr, Daniel A.
    Publicado 2018
    “…We found fer-2 and fer-4 alleles to be nonsense mutations in mib-1. fer-3 was caused by a nonsense mutation in eri-3. …”
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    The E3 Ubiquitin Ligase MIB-1 Is Necessary To Form the Nuclear Halo in Caenorhabditis elegans Sperm
  6. 986
    “…Here, we describe the identification of a novel nonsense GLI3 pathogenic variant in an adult male following the incidental detection of a hypothalamic hamartoma.…”
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    A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
  7. 987
    “…Exome sequencing revealed that both affected boys were homozygous for a nonsense mutation in the G-protein β5 (GNB5) gene (NM_016194.3:c.1032C > G; Tyr344Ter), and that the parents were carriers of this mutation. …”
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    Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome
  8. 988
    por Li, Weiyi, Lynch, Michael
    Publicado 2020
    “…Surprisingly, an increased frequency of nonsense errors towards the 3′ end of mRNAs was observed, suggesting a Nonsense-Mediated Decay-like quality-control mechanism in prokaryotes.…”
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    Universally high transcript error rates in bacteria
  9. 989
    “…We find evidence that human raters have significant non-uniform preferences over these nonsense words, and we detail the consequences of this finding for social science work that utilizes identifiers without accounting for the bias this can induce. …”
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    CurmElo: The theory and practice of a forced-choice approach to producing preference rankings
  10. 990
    “…To our knowledge, this is the first case of a patient who had both nonsense and frameshift variants. It is assumed that the frameshift variant with premature stop codon lead to nonsense-mediated RNA decay. …”
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    The First Russian Patient with Native American Myopathy
  11. 991
    “…The p.Arg42* nonsense mutation has never been found in WS1 and its pathogenicity is unclear so far. …”
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    An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
  12. 992
    “…In conclusion, gentamicin ointment demonstrated positive responses and good tolerance in treating Nagashima-type palmoplantar keratosis caused by nonsense mutations.…”
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    Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study
  13. 993
    “…Whole exome sequencing revealed a novel homozygous nonsense mutation in XYLT2 (p.Tyr414*) in these patients. …”
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    Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
  14. 994
    “…Mutations were classified as being either nonsense/frameshift variants or missense/in-frame insertion/deletion variants. …”
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    Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
  15. 995
    “…RESULTS: A total of seven pathogenic variants in four of the 20 genes were detected in six probands from six families, including three with hemizygous nonsense variants p.(Q308*), p.(Q416*), and p.(R550*) in MSN, one with homozygous nonsense variants p.…”
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    Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic
  16. 996
    por Zhang, Hua-yong, Xiao, Min, Zhang, Yong
    Publicado 2023
    “…Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). …”
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    Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
  17. 997
    “…The spectrum of these mutations has been analyzed with the following results: 1) the retinoblastoma protein is frequently inactivated by deletions and nonsense mutations while missense mutations are the main inactivating event in most genetic diseases. 2) Near 40% of RB1 gene mutations are recurrent and gather in sixteen hot points, including twelve nonsense, two missense and three splicing mutations. …”
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    RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database
  18. 998
    “…Three mutations (one frameshift, splicing defect, and in-frame deletion) are novel and two (one frameshift and nonsense) known. In addition, two mutations (nonsense and splicing defect) are possibly de novo. …”
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    Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
  19. 999
    “…The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. …”
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    Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys
  20. 1000
    “…We found that a number of KMT2D truncating mutations result in mRNA degradation through the nonsense-mediated mRNA decay, contributing to protein haploinsufficiency. …”
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    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
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