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  1. 1501
    “…We performed whole-exome sequencing (WES) for Japanese siblings, and identified a novel homozygous nonsense mutation in the RPGR-interacting protein 1 (RPGRIP1) gene. …”
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    Novel mutation identified in Leber congenital amaurosis - a case report
  2. 1502
    “…FGD causing mutations in the MC2R accessory protein, MRAP, are often splice-site or nonsense mutations resulting in a truncated protein. …”
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    In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
  3. 1503
    “…Whole-exome sequencing (WES) identified a heterozygous nonsense RPS6KA3 gene variant c.898C>T (p.R300X). It was verified by Sanger sequencing. …”
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    Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion
  4. 1504
    “…The results demonstrated that clown doctors bring higher levels of fun, benevolent humor, and nonsense and a lower level of cynicism compared to the populace. …”
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    Do Clowns Really Taste Funny? An Investigation of the Relationship between Humor and Playfulness in Clown Doctors
  5. 1505
    “…We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant SATB2:c.715C>T:p.(Arg239*) identified by whole-exome sequencing and review the literature. …”
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    SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review
  6. 1506
    “…Here, we analyzed a three-generation family in which two of three female carriers of a nonsense RPGR mutation presented with RP. Among two cell lines derived from the same female family members, differences were detected in RPGR transcript expression, in localization of RPGR along cilia, as well as in primary cilium length. …”
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    Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
  7. 1507
    por Li, Dianyang, Yu, Wenying, Lai, Maode
    Publicado 2023
    “…SRSFs also participate in other RNA metabolic events, such as transcription, translation and nonsense-mediated decay, during their shuttling between nucleus and cytoplasm, making them indispensable for genome diversity and cellular activity. …”
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    Towards understandings of serine/arginine-rich splicing factors
  8. 1508
    “…The girl was initially diagnosed with MWS after discovery of a pathogenic nonsense mutation in ZEB2. Starting from the age of 3 years old, the child experienced repeated epistaxis on the right side without obvious incentive or trauma. …”
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    Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
  9. 1509
    por Lerat, Emmanuelle, Ochman, Howard
    Publicado 2005
    “…Most pseudogenes are formed by small frameshifting indels, but because stop codons are A + T-rich, the two low-G + C Gram-positive taxa (Streptococcus and Staphylococcus) have relatively high fractions of pseudogenes generated by nonsense mutations when compared with more G + C-rich genomes. …”
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    Recognizing the pseudogenes in bacterial genomes
  10. 1510
    “…Among the targets of the repressive splicing regulator, polypyrimidine tract binding protein (PTB) is its own pre-mRNA, where PTB-induced exon 11 skipping produces an RNA substrate for nonsense-mediated decay (NMD). To identify additional PTB-regulated alternative splicing events, we used quantitative proteomic analysis of HeLa cells after knockdown of PTB. …”
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    Crossregulation and Functional Redundancy between the Splicing Regulator PTB and Its Paralogs nPTB and ROD1
  11. 1511
    “…The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient. A nonsense mutation in exon 17 (codon 556) of the RB1 gene was found to be present homozygously in both the retinal and the pineal tumours. …”
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    The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
  12. 1512
    “…A C → T nucleotide substitution in exon 13 resulted in replacement of an arginine codon with a stop codon, a nonsense mutation. Although it is widely accepted that HSCR represents the failure of early embryonic neural crest cells to migrate properly, the exact mechanism is not known. …”
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    L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease
  13. 1513
    “…The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. …”
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    Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle
  14. 1514
    “…In a third part, we make a case that the sense or nonsense of the behavioral violations of optimality principles in humans can best be understood from an evolutionary perspective, thus requiring animal research. …”
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    Why We Should Use Animals to Study Economic Decision Making – A Perspective
  15. 1515
    “…Accordingly, merely using a dysfunctional, ‘slow’ computer mouse causes participants to dislike ambient neutral images (Study 1). In Study 2, nonsense shapes were liked less when associated with effortful processing (135° of mental rotation) versus easier processing (45° of rotation). …”
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    Sources of avoidance motivation: Valence effects from physical effort and mental rotation
  16. 1516
    “…Map-based cloning of a severe dwarf mutant in maize revealed a nonsense mutation in an ortholog of a brassinosteroid C-6 oxidase, termed brd1, the gene encoding the enzyme that catalyzes the final steps of brassinosteroid synthesis. …”
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    Brd1 Gene in Maize Encodes a Brassinosteroid C-6 Oxidase
  17. 1517
    “…Deletions and missense, frameshift, or nonsense mutations in the gp91(phox )gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. …”
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    Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review
  18. 1518
    “…The polypyrimidine tract binding proteins, PTBP1 and PTBP2, repress Psd-95 exon 18 splicing, leading to premature translation termination and nonsense-mediated mRNA decay (NMD). The loss first of PTBP1 and then of PTBP2 during embryonic development allows splicing of Exon 18 and expression of PSD-95 late in neuronal maturation. …”
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    Psd-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2
  19. 1519
    “…A clinical diagnosis of WRS was confirmed by theidentification of a novel homozygous nonsense mutation (R491X) in exon9 of the EIF2AK3 gene. …”
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    Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
  20. 1520
    por Liu, Li-yu Daisy, Charng, Yuh-Chyang
    Publicado 2012
    “…Up to 71% of the exonized transcripts were putative targets for the nonsense-mediated decay (NMD) pathway. The insertion patterns of Ds and the polymorphic splice donor sites increased the transcripts and subsequent protein isoforms. …”
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    Genome-Wide Survey of Ds Exonization to Enrich Transcriptomes and Proteomes in Plants
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