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  1. 3701
    “…Tyrosine side chains participate in several distinct signaling pathways, including phosphorylation and membrane trafficking. A nonsense suppression procedure was used to incorporate a caged tyrosine residue in place of the natural tyrosine at position 242 of the inward rectifier channel Kir2.1 expressed in Xenopus oocytes. …”
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    Tyrosine Decaging Leads to Substantial Membrane Trafficking during Modulation of an Inward Rectifier Potassium Channel
  2. 3702
    “…The most common type of mutation is missense (57%), followed by frameshifts & nonsense (27%), and diverse deletions, insertions and duplications. …”
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    The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
  3. 3703
    “…These were frameshift mutations in five patients, nonsense mutations in five patients, a small inframe deletion in one patient, and a large germline deletion in another patient. …”
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    PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
  4. 3704
    “…In the case of c- met -antisense-treated cells, apoptotic cell death induced by serum deprivation was more prominent, compared to control or c- met -nonsense-treated cells. Treatment with c- met -antisense oligonucleotides inhibits the gene expression of bcl -w in LoVo cells. …”
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    Met/HGF receptor modulates bcl-w expression and inhibits apoptosis in human colorectal cancers
  5. 3705
    “…Gene Identification by Nonsense-mediated mRNA decay Inhibition (GINI) analysis has identified the ICR191-induced frameshift mutations in the TP53, smoothelin, Ras association (RalGDS/AF-6) domain family 6 (RASSF6) and other genes in the transformed MCF-10A cells. …”
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    Transformation of MCF-10A cells by random mutagenesis with frameshift mutagen ICR191: A model for identifying candidate breast-tumor suppressors
  6. 3706
    “…Of the 23 different germline mutations identified, 13 were novel consisting of: four splice site, three deletions, two insertions, two nonsense, one deletion/insertion, and one missense mutation. …”
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    BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
  7. 3707
    “…METHODS: We modeled the heterozygous state for 4 missense (E323K, R346T, P370L, D380A) and 1 nonsense (Q368X) myocilin mutants by transiently co-expressing each mutant with the wild-type protein in HEK-293T cells. …”
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    Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin
  8. 3708
    “…This pattern causes premature termination of mRNA translation in the event of intron retention, and potentially degradation of unspliced mRNAs by the nonsense-mediated mRNA decay pathway. CONCLUSION: The combination of short leaders, tiny introns and single genes leads to very minimal macronuclear chromosomes. …”
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    Macronuclear genome structure of the ciliate Nyctotherus ovalis: Single-gene chromosomes and tiny introns
  9. 3709
    “…Transcript isoforms that are putative targets for the nonsense-mediated decay (NMD) pathway are as likely to contain conserved AS events as isoforms that are translated into proteins. …”
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    Comparative analysis indicates that alternative splicing in plants has a limited role in functional expansion of the proteome
  10. 3710
    por Evans, D Gareth R
    Publicado 2009
    “…Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common. …”
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    Neurofibromatosis type 2 (NF2): A clinical and molecular review
  11. 3711
    “…Positionally, ΨEs are also significantly associated with the 5' end of genes, but despite this, individual stop codons are positioned so that there is significant avoidance of potential targeting to nonsense-mediated decay. In human, ΨEs are often associated with alternative splicing (in 22 out of 284 genes with ΨEs in their milieu), and can have different parts of their sequence differentially spliced in alternative transcripts. …”
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    Genomic evidence for non-random endemic populations of decaying exons from mammalian genes
  12. 3712
    “…CONCLUSIONS/SIGNIFICANCE: Although we did not identify variants leading to novel amino acid substitutions, nonsense or frameshift mutations, this study warrants further examination of variation in the ATXN2 gene in obesity and related phenotypes in a larger case-control study with emphasis on rs695872 and CAG repeat structure.…”
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    Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity
  13. 3713
    “…Two toothless anteater species have evolved different sets of nonsense mutations shortly after their BMP1 motifs suggesting that while cleavage may be important for DSPP processing in other tissues, the DPP domain itself may be required only in dentin. …”
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    Molecular evolution of dentin phosphoprotein among toothed and toothless animals
  14. 3714
    “…ARX function is frequently affected by naturally occurring mutations. Nonsense mutations, polyalanine tract expansions and missense mutations in ARX cause a range of intellectual disability and epilepsy phenotypes with or without additional features including hand dystonia, lissencephaly, autism or dysarthria. …”
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    Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
  15. 3715
    “…One ovarian cancer patient with the PALB2 mutation had also a germline nonsense mutation of the BRCA2 gene. CONCLUSIONS: The c.509_510delGA is a novel PALB2 mutation that increases the risk of familial breast cancer. …”
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    A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
  16. 3716
    “…The predicted impact of each event on the protein is also reported, along with information about being a putative target for the nonsense-mediated decay (NMD) pathway. Links are provided to the UCSC genome browser and other external resources. …”
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    TassDB2 - A comprehensive database of subtle alternative splicing events
  17. 3717
    “…Sequencing FOXE3 identified the previously reported nonsense mutation, c.720C>A, p.C240X, in the Pakistani pedigree and a novel missense mutation which disrupts an evolutionarily conserved residue in the forkhead domain, c.292T>C, p.Y98H, in the Mexican pedigree. …”
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    Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
  18. 3718
    “…AS coupled with mRNA nonsense-mediated decay (NMD) can also control the transcript abundance. …”
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    Large-Scale Evidence for Conservation of NMD Candidature Across Mammals
  19. 3719
    por Yu, GongXin
    Publicado 2010
    “…The heterogeneity results in non-synonymous and nonsense mutations, leading to truncated proteins for both LysR and MutS. …”
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    Gen(Htr): a tool for comparative assessment of genetic heterogeneity in microbial genomes generated by massive short-read sequencing
  20. 3720
    “…The 23 substitutions constituted 18 missense mutations, two nonsense mutations, and three silent mutations. Of the 28 mutations (7.14%) observed in this study, 2 were not previously reported for CRC samples and were identified as novel p53 mutations. …”
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    Molecular Gate Keepers Succumb to Gene Aberrations in Colorectal Cancer in Kashmiri Population, Revealing a High Incidence Area
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