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  1. 2301
    “…Until 2014, approximately 70 THD patients with a total of 40 different disease-related missense mutations, five nonsense mutations, and three mutations in the promoter region of the tyrosine hydroxylase (TH) gene have been reported. …”
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    Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia
  2. 2302
    “…A −1 PRF event on the CCR5 mRNA directs translating ribosomes to a premature termination codon, destabilizing it through the nonsense-mediated mRNA decay pathway. At least one additional mRNA decay pathway is also involved. …”
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    Ribosomal frameshifting in the CCR5 mRNA is regulated by miRNAs and the NMD pathway
  3. 2303
    por Lareau, Liana F., Brenner, Steven E.
    Publicado 2015
    “…Expression of these genes is regulated via alternative splicing of the ultraconserved regions to yield mRNAs that are degraded by nonsense-mediated mRNA decay (NMD), a process termed unproductive splicing (Lareau et al. 2007; Ni et al. 2007). …”
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    Regulation of Splicing Factors by Alternative Splicing and NMD Is Conserved between Kingdoms Yet Evolutionarily Flexible
  4. 2304
    “…The patient had compound heterozygous missense and nonsense polymorphisms comprising c.1001A>G (p.Gln334Arg) in exon 6 and c.1393C>T (p.Arg465Ter) in exon 8, which are known to result in a DHP enzyme with little or no activity. …”
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    Genetic Polymorphisms of Dihydropyrimidinase in a Japanese Patient with Capecitabine-Induced Toxicity
  5. 2305
    “…The patients are homozygous for different nonsense alleles that prevent the expression of IL-17RC on the cell surface. …”
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    Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
  6. 2306
    “…In this study, we identified a novel CD177 nonsense single nucleotide polymorphism (SNP 829A>T) that creates a stop codon within the CD177 coding region. …”
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    Genetic Mechanism of Human Neutrophil Antigen 2 Deficiency and Expression Variations
  7. 2307
    “…Out of the 39 mutations detected in 24 cases, 20 were frameshifts and 19 were nonsense, missense, or silent mutations. Some specimens harboured more than one mutation. …”
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    PTEN Sequence Analysis in Endometrial Hyperplasia and Endometrial Carcinoma in Slovak Women
  8. 2308
    por Murphy, Anita C.H., Young, Paul W.
    Publicado 2015
    “…Intriguingly, approximately 16 % of people worldwide are homozygous for a nonsense mutation in ACTN3 that abolishes actinin-3 protein expression. …”
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    The actinin family of actin cross-linking proteins – a genetic perspective
  9. 2309
    “…These results suggest that these R177X mutant messenger ribonucleic acids are disrupted by nonsense-mediated messenger ribonucleic acid decay in MODY-iPS cells during the developmental stages of pancreatic β-cells.…”
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    Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient
  10. 2310
    “…Our analysis identified recurrent somatic missense or nonsense mutations in 70 genes, 9 of which contained mutations predicted significant by all 4 algorithms: ATM, RUNX1T1, WDR17, NTRK3, TP53, TRMT12, CACNA2D1, INTS8, and KCNH8. …”
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    Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma
  11. 2311
    “…One cell line has a novel BRCA1 splice-site mutation, and another, a recurrent BRCA2 nonsense mutation, both of germline origin. The novel BRCA1 mutation induced abnormal splicing, mRNA instability, resulting in the absence of BRCA1 protein. …”
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    Novel high-grade serous epithelial ovarian cancer cell lines that reflect the molecular diversity of both the sporadic and hereditary disease
  12. 2312
    “…In a cohort of African-American children, a FLG2 nonsense mutation has been associated with the disease. …”
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    In a three-dimensional reconstructed human epidermis filaggrin-2 is essential for proper cornification
  13. 2313
    “…In earlier work, we demonstrated that the host upframeshift protein 1 (UPF1), a key factor in nonsense-mediated mRNA decay (NMD), colocalized and associated to the viral structural protein Gag during viral egress. …”
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    HIV-1 Recruits UPF1 but Excludes UPF2 to Promote Nucleocytoplasmic Export of the Genomic RNA
  14. 2314
    “…ATM is an important cancer susceptibility gene that encodes a critical apical kinase of the DNA damage response (DDR) pathway. We show that a key nonsense-mediated RNA decay switch exon (NSE) in ATM is repressed by U2AF, PUF60 and hnRNPA1. …”
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    Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting
  15. 2315
    “…They include heterozygous SNVs in the genes encoding IL-1 receptor-associated kinase 4 (IRAK4), nucleotide-binding oligomerization domain (NOD)-like receptor family pyrin domain-containing 14 (NRP14) and melanoma antigen-encoding gene E2 (MAGEE2); IRAK4 harbors a missense mutation, whereas NRP14 and MAGEE2 harbor nonsense mutations. These SNVs may serve as genetic markers that characterize BD.…”
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    Microarray and whole-exome sequencing analysis of familial Behçet’s disease patients
  16. 2316
    “…Immunofluorescence analysis confirmed the absence of outer and inner dynein arms from the ciliary axoneme, consistent with the already published ZMYND10-mutated phenotype; cDNA analysis revealed the lack of ZMYND10 mRNA, indicating nonsense-mediated decay of the truncated transcript.…”
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    ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia
  17. 2317
    “…Most of the patients with inherited FXIII deficiency described in the literature carry F13A1 gene point mutations (missense, nonsense and splice site defects), whereas large deletions (>0.5 kb in size) are underrepresented. …”
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    Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene
  18. 2318
    por Patnaik, M M, Tefferi, A
    Publicado 2016
    “…Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. …”
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    Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia
  19. 2319
    “…Here, we used BioID, on its own and combined with co-IP, to identify proteins involved in nonsense-mediated mRNA decay (NMD), a post-transcriptional mRNA turnover pathway that targets mRNAs that fail to terminate translation properly. …”
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    Identification of Interactions in the NMD Complex Using Proximity-Dependent Biotinylation (BioID)
  20. 2320
    “…In fact, one of the disadvantages of this technique is a lot of nonsense and redundant rules due to the lack of attention to the concept and meaning of items or the samples. …”
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    A new algorithm to extract hidden rules of gastric cancer data based on ontology
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