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  1. 2801
    “…RESULTS: We identified rare heterozygous nonsense and frameshift mutations in several of the candidate genes, including CARD6, CARD8, DEFB1, FUT2, MBL2, NLP10, NLRP12, and NOD2. …”
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    Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)
  2. 2802
    “…The 2 bp nucleotide change results in a missense mutation p.K185 N and a nonsense mutation p.Q186X. We also conducted literaturte review to compare the clinical phenotypes of our patient to those of cases previously reported with NDE1 mutations, and found all patients had mental retardation, severe microcephaly, and corpus callosum agenesis. …”
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    Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review
  3. 2803
    por Zhou, Yang, Johansson, Marcus J. O.
    Publicado 2017
    “…Inactivation of the cytoplasmic nonsense-mediated mRNA decay (NMD) pathway in the RES mutants leads to accumulation of MED20 pre-mRNA, indicating that inefficient nuclear retention contributes to the growth defect. …”
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    The pre-mRNA retention and splicing complex controls expression of the Mediator subunit Med20
  4. 2804
    “…Here, we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene. Rpgrip1homozygous mutants do not form rod outer segments and display mislocalization of rhodopsin, suggesting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking. …”
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    Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish
  5. 2805
    “…Especially, we identified a putative H3K36me3-regulated AS event leading to a nonsense-mediated mRNA decay of BARD1. Reduced BARD1 expression results in the attenuation of ATM/ATR signalling activities and further the hESC differentiation. …”
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    Deep learning of the splicing (epi)genetic code reveals a novel candidate mechanism linking histone modifications to ESC fate decision
  6. 2806
    “…We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. …”
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    CDKL5 variants: Improving our understanding of a rare neurologic disorder
  7. 2807
    “…Through mutational analyses, two WIPS3 mutations in exon 4, including a novel frameshift mutation (c.670dupA) in the paternal allele and an already described nonsense mutation (c.756C > A, p.Cys252*) in the maternal allele, were identified in the proband. …”
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    Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report
  8. 2808
    “…However, many intron-retained mRNAs were not substrates for nonsense-mediated decay (NMD), even though they were detected in polysomes. …”
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    Fractionation iCLIP detects persistent SR protein binding to conserved, retained introns in chromatin, nucleoplasm and cytoplasm
  9. 2809
    “…In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). …”
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    Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
  10. 2810
    “…Protein domain formation and nonsense-mediated decay are considered the main functional features of splicing. …”
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    ASpedia: a comprehensive encyclopedia of human alternative splicing
  11. 2811
    “…In this study, we used nonsense suppression to incorporate singly and doubly fluorinated phenylalanine residues at Tyr652 and Phe656 to assess cation-π interactions in hERG terfenadine, quinidine, and dofetilide block. …”
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    Probing the molecular basis of hERG drug block with unnatural amino acids
  12. 2812
    “…The proliferation rates and clone group numbers were significantly higher in HPV16E6-transfected cell groups compared with nonsense-transfected (negative control) cell groups. …”
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    Effects of HPV16E6 transfection on the biological behavior of Eca109 and Eca9706 cells
  13. 2813
    “…As many gene regulatory functions are post-transcriptional, we employed a comparative proteomic study of cells infected with plasmid-cured C. trachomatis serovars A and D (trachoma biovar), a L2 serovar (LGV biovar), and the L2 serovar transformed with a plasmid containing a nonsense mutation in pgp4 to more completely elucidate the effects of the plasmid on chlamydial infection biology. …”
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    Plasmid Negative Regulation of CPAF Expression Is Pgp4 Independent and Restricted to Invasive Chlamydia trachomatis Biovars
  14. 2814
    “…Variants on the database for human control subjects of Japanese origin were removed and all the nonsynonymous and nonsense variants were validated using Sanger sequencing. …”
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    Novel rare variations in genes that regulate developmental change in N-methyl-d-aspartate receptor in patients with schizophrenia
  15. 2815
    “…To understand how variant tRNA function is affected by temperature change, we used the tRNA nonsense suppressor SUP4(oc) of the yeast Saccharomyces cerevisiae to perform a high-throughput quantitative screen of tRNA function at two different growth temperatures. …”
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    Widespread temperature sensitivity and tRNA decay due to mutations in a yeast tRNA
  16. 2816
    “…In this study, we aimed to investigate the genetic roles of SRR and a neighbouring gene, nonsense‐mediated mRNA decay factor (SMG6), in temporal lobe epilepsy (TLE). …”
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    SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy
  17. 2817
    “…We found that loss of mRNA surveillance pathways in mutants deficient in nonsense-mediated decay (NMD), no-go decay (NGD) and nonstop decay (NSD) results in increased protein aggregation. …”
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    Loss of mRNA surveillance pathways results in widespread protein aggregation
  18. 2818
    por Choi, Seo-Won, Nam, Jin-Wu
    Publicado 2018
    “…To eliminate 3’UTR fragments, the second step takes advantage of the 3’UTR-specific association with regulator of nonsense transcripts 1 (UPF1), leading to refined lncRNA annotation. …”
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    TERIUS: accurate prediction of lncRNA via high-throughput sequencing data representing RNA-binding protein association
  19. 2819
    “…In several cases, frameshift and/or nonsense mutations in TSHR were found in the patients with congenital hypothyroidism (CH), however they have not been functionally studied in an animal model. …”
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    Generation and characterization of a hypothyroidism rat model with truncated thyroid stimulating hormone receptor
  20. 2820
    “…Through whole-genome analyses, we show that ZFR controls interferon signaling by preventing aberrant splicing and nonsense-mediated decay of histone variant macroH2A1/H2AFY mRNAs. …”
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    ZFR coordinates crosstalk between RNA decay and transcription in innate immunity
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