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  1. 1441
    “…We identified 54 heterozygous RSVs (51 missense, 1 nonsense, 2 frameshift; 27.4% of alleles) in 46 HA women (1-3 RSVs/woman, 58 total RSVs, 12 subjects with >1 RSV) and 149 heterozygous RSVs (141 missense, 1 nonsense, 4 frameshift, 3 inframe indels; 18.8%) in 146 control women (1-4 RSVs/woman, 179 total RSVs, 28 subjects with >1 RSV) which represents a significantly increased burden of RSVs in HA (P = 0.006). …”
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    OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea
  2. 1442
    “…The uptake rate in the (177)Lu-asPNA group was much higher than that in the (177)Lu-DOTA-nonsense-PNA ((177)Lu-nonsense-PNA) and (177)Lu-DOTA groups (P<0.05). …”
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    Preparation and SPECT/CT Imaging of (177)Lu-Labeled Peptide Nucleic Acid (PNA) Targeting CITED1: Therapeutic Evaluation in Tumor-Bearing Nude Mice
  3. 1443
    “…Clinical exome sequencing revealed a previously known, homozygous, nonsense variant c.1680C > A (p.Cys560Ter) in exon 10 of FAM20C. …”
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    Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
  4. 1444
    “…We also report 24 novel variants, most of these being frameshift and nonsense mutations resulting in premature termination of protein synthesis. …”
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    Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India
  5. 1445
    “…The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the whole ATM protein. …”
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    Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
  6. 1446
    “…Among seven colistin-resistant isolates, five harbored inactivated/mutated MgrB due to premature termination by nonsense mutations, insertion of IS elements, and frameshift mutations. …”
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    Characterization of Tigecycline Resistance Among Tigecycline Non-susceptible Klebsiella pneumoniae Isolates From Humans, Food-Producing Animals, and in vitro Selection Assay
  7. 1447
    “…Among the seven variants never previously described, the most common coding impact was the nonsense mutation. We found two frameshift, one intronic splicing variant, three nonsense, and one deletion splice junction loss. …”
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    X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro
  8. 1448
    “…Additionally, upregulation of ABCA1 upon SMG1 knockdown was independent of upregulation of nonsense-mediated decay target RASSF1C, previously suggested to regulate ABCA1 via a “RASSF1C-miR33a-ABCA1” axis. …”
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    A Novel Role of SMG1 in Cholesterol Homeostasis That Depends Partially on p53 Alternative Splicing
  9. 1449
    por Thirring, Walter
    Publicado 1992
    “…Even Kepler's laws, which determine the radii of the planetary orbits, and which used to be passed over in silence as mystical nonsense, seem to point the way to a truth unattainable by superficial observation: The ratios of the radii of Platonic solids to the radii of inscribed Platonic solids are irrational, but satisfy algebraic equations of lower order.…”
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    A course in mathematical physics 1 and 2: classical dynamical systems and classical field theory
  10. 1450
    por McDaniel, Stephen, Hemedinger, Chris
    Publicado 2010
    “…SAS provides statistical and data analysis tools to help you deal with all kinds of data: operational, financial, performance, and more Places special emphasis on Enterprise Guide and other analytical tools, covering all commonly used features Covers all commonly used features and shows you the practical applications you can put to work in your business Explores how to get various types of data into the software and how to work with databases Covers producing reports and Web reporting tools, analytics, macros, and working with your data In the easy-to-follow, no-nonsense For Dummies format, SAS For Dummies gives you the knowledge and the confidence to get SAS working for your organization. …”
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    SAS for dummies
  11. 1451
    “…This study shows that gain‐of‐function variants in KLHL24 causing EBS and DCM, do not only originate in the start‐codon and suggest that any nonsense‐inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.…”
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    A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
  12. 1452
    “…We identified a novel homozygous nonsense variant c.8841G > A: p.(W2947(∗)) in VPS13B (NM_017890.5) which segregated with the disease. …”
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    A Novel Variant in VPS13B Underlying Cohen Syndrome
  13. 1453
    “…We assayed the abundance of 95% of GCK missense and nonsense variants, and found that 43% of hypoactive variants have a decreased cellular abundance. …”
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    Characterizing glucokinase variant mechanisms using a multiplexed abundance assay
  14. 1454
    “…One patient is compound heterozygous for the c.258dupC (p.N87QfsX9) frameshift mutation and the c.2227C>T (p.Q743X) nonsense mutation. The other patient harbors the c.−32–13T>G splice variant and the c.1826dupA (p.Y609X) frameshift mutation in compound heterozygosity.…”
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    Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
  15. 1455
    “…Since the initial clinical and genetic characterisation of DTDS in 2009, there have been thirty-one published cases with a variety of protein-truncating variants (nonsense variants, splice-site changes, and deletions) and missense changes. …”
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    Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches
  16. 1456
    “…We also describe advances in our understanding of the nonsense‐mediated mRNA decay (NMD) pathway, highlighting recent mechanistic findings, the discovery of novel factors, as well as the role of NMD in cellular physiology and its impact on human disease.…”
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    Translation‐coupled mRNA quality control mechanisms
  17. 1457
    “…Genetic testing revealed a nonsense mutation in the GATA3 gene, consistent with HDR syndrome. …”
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    Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia
  18. 1458
    “…The increase in mRNA levels was accompanied by increased resistance to nonsense-mediated mRNA decay (NMD)-mediated degradation. …”
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    Introduction of Dicistrovirus IRESs into UAS/SV40-polyA constructs results in premature polyadenylation and strong overexpression of the upstream ORF in Drosophila animals
  19. 1459
    “…Our results confirm known coupling among transcription, RNA processing, and export, and predict further coupling with translation and nonsense-mediated decay. We systematically corroborate our analysis with two independent, comprehensive experimental data sets. …”
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    Systems-level analyses identify extensive coupling among gene expression machines
  20. 1460
    “…A cryopreserved library of N-ethyl-N-nitrosourea (ENU) mutagenized fish was screened by high-throughput resequencing for induced point mutations. Nonsense and splice site mutations were retrieved for the Blm, Sirt1, Parkin and p53 genes and functional characterization of p53 mutants indicated a complete knockout of p53 function. …”
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    Generation of medaka gene knockout models by target-selected mutagenesis
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