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  1. 1981
    “…Surprisingly, the majority of MPS IIIC patients carrying missense mutations are as severely affected as those with splicing errors, frame shifts or nonsense mutations resulting in the complete absence of HGSNAT protein. …”
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    Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
  2. 1982
    “…However, the spectrum of mutations generated by these vectors appears largely restricted to the last intron of target loci due to nonsense-mediated mRNA decay (NMD) making them unsuitable for gene targeting applications. …”
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    Expression-independent gene trap vectors for random and targeted mutagenesis in embryonic stem cells
  3. 1983
    “…There is a clear predominance of missense/nonsense mutations in these genes whereas copy number variations (CNVs) have been seldom described, probably due to the limitations of conventional techniques usually employed for mutational analysis. …”
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    A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique
  4. 1984
    “…While crucial for immune function, this rearrangement mechanism is highly error prone, often generating frameshift or nonsense mutations that render the rearranged TCR and Ig genes defective. …”
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    Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruption
  5. 1985
    “…Unexpectedly, when tethered to a precursor mRNA, TRAP150 can trigger mRNA degradation in the nucleus. However, unlike nonsense-mediated decay, TRAP150-mediated mRNA decay is irrespective of the presence of upstream stop codons and occurs in the nucleus. …”
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    TRAP150 activates pre-mRNA splicing and promotes nuclear mRNA degradation
  6. 1986
    “…In a second metachondromatosis family, we confirmed our result by identifying a nonsense mutation in exon 4 of PTPN11 that also co-segregates with the phenotype. …”
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    Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
  7. 1987
    “…BACKGROUND: Nonsense-mediated mRNA decay (NMD) is a post-transcriptional RNA surveillance process that facilitates the recognition and destruction of mRNAs bearing premature terminations codons (PTCs). …”
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    UPF2 Is a Critical Regulator of Liver Development, Function and Regeneration
  8. 1988
    “…Sequencing identified a nonsense mutation in the KLF1 gene, p.K288X, ablating the DNA binding domain of this key erythroid transcriptional regulator 2. …”
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    Haploinsufficiency for the erythroid transcription factor KLF1 causes Hereditary Persistence of Fetal Hemoglobin
  9. 1989
    “…Fibroblast mRNA analysis was consistent with nonsense-mediated mRNA decay, with no evidence of mutated exon skipping. …”
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    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
  10. 1990
    “…The majority of these mutations were non-synonymous, nonsense, or splice variants, and were enriched in genes mutated or having causative effects in cancers. …”
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    Somatic coding mutations in human induced pluripotent stem cells
  11. 1991
    “…Here, four yeast −1 RF signals are shown to promote significant mRNA destabilization through the nonsense mediated mRNA decay pathway (NMD), and genetic evidence is presented suggesting that they may also operate through the no-go decay pathway (NGD) as well. …”
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    Endogenous ribosomal frameshift signals operate as mRNA destabilizing elements through at least two molecular pathways in yeast
  12. 1992
    “…Finally, we showed that aminoglycoside treatment decreased the viability of cancer cells specifically in the presence of nonsense-mutated p53 gene. These results open possibilities of developing promising treatments of cancers linked with non-sense mutations in tumor suppressor genes. …”
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    Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides
  13. 1993
    “…We isolated amongst others novel mutant alleles for Dll1, Ptprb, Plexin-B2, Fgf10, Wnt3a, Ncx1, Scrib(Scrib, Scribbled homolog [Drosophila]) and Sec24b. We found both nonsense alleles leading to severe protein truncations and mutants with single-amino acid substitutions that are informative at a molecular level. …”
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    An ENU-Mutagenesis Screen in the Mouse: Identification of Novel Developmental Gene Functions
  14. 1994
    por Lin, Jung-Chun, Tarn, Woan-Yuh
    Publicado 2011
    “…Here we show that down-regulation of PTB and its neuronal analogue nPTB during muscle cell differentiation may involve alternative splicing-coupled nonsense-mediated mRNA decay. RBM4 regulates PTB/nPTB expression by activating exon skipping of their transcripts during myogenesis. …”
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    RBM4 down-regulates PTB and antagonizes its activity in muscle cell–specific alternative splicing
  15. 1995
    “…The nonsense-mediated mRNA decay (NMD) pathway is a highly conserved surveillance mechanism that is present in all eukaryotes. …”
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    Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish
  16. 1996
    “…Nonsense-mediated mRNA decay (NMD) prevents the accumulation of transcripts bearing premature termination codons. …”
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    Cryptic Transcription Mediates Repression of Subtelomeric Metal Homeostasis Genes
  17. 1997
    “…Here we show that the pattern of SUS1 splicing changes in response to environmental change such as temperature elevation, and the retained intron product is subject to nonsense-mediated decay. The activities of different splicing factors determine the pattern of SUS1 splicing, including intron retention and exon skipping. …”
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    Key features of the two-intron Saccharomyces cerevisiae gene SUS1 contribute to its alternative splicing
  18. 1998
    “…Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes. …”
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    A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer
  19. 1999
    “…Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. …”
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    Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function
  20. 2000
    “…Of these mutations, six were nonsense, and three were frameshifts, all associated with severe phenotypes resulting in bilateral and multifocal tumors. …”
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    Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma
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