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  1. 2841
    “…Currently, the mutTCPdb enlists 100 variants of all 11 genes identified in TCP, out of which 45 are non-synonymous (missense, nonsense, deletions and insertions), 46 are present in non-coding regions (UTRs, promoter region and introns) and 9 are synonymous variants. …”
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    mutTCPdb: a comprehensive database for genomic variants of a tropical country neglected disease—tropical calcific pancreatitis
  2. 2842
    “…The uORFs often function as translation inhibitors of the mORF or as triggers of nonsense-mediated mRNA decay (NMD). Transcription from TSSs located downstream of the uORFs in 220 genes is enhanced by BL exposure. …”
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    Transcripts from downstream alternative transcription start sites evade uORF-mediated inhibition of gene expression in Arabidopsis
  3. 2843
    “…In particular, we found that a cancer-specific L1 insertion in an exon of MOV10, a key L1 suppressor, caused exon skipping and decreased expression of the affected allele due to nonsense-mediated decay in a tumor with a high L1 insertion load. …”
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    Immune signatures correlate with L1 retrotransposition in gastrointestinal cancers
  4. 2844
    “…GALNS gene molecular analysis showed five homozygous missense mutations in exon 11 c.1156C > T or p.R386C, a single nonsense mutation in the heterozygous state c.974G > A p.W325, and heterozygous in exon 9 mutation of exon 3 c.280C > T p.R94C, missense variant reported by Ogawa in 1995 [17]. …”
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    Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
  5. 2845
    “…RNA-seq analysis of nonsense-mediated decay (NMD)-inhibited cells revealed previously undescribed splice junctions, rare or not detected in normal cells, that connect constitutive exons 4 and 5 to highly conserved cryptic cassette exons within the intron. …”
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    An important class of intron retention events in human erythroblasts is regulated by cryptic exons proposed to function as splicing decoys
  6. 2846
    “…Moreover, DNA-mutation analysis revealed that some complexin transcripts from resistant lice gained a premature stop codon, suggesting that this down-expression might be due, in part, to secondary effects of a nonsense mutation inside the gene. We further confirmed the association between complexin and ivermectin-resistance by RNA-interfering and found that knocking down the complexin expression induces resistance to ivermectin in susceptible lice. …”
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    Complexin in ivermectin resistance in body lice
  7. 2847
    “…The majority of those were missense (55%) followed by frameshift and nonsense (30%), intronic (11.7%) variants, and in-frame deletions (3.3%). …”
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    Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
  8. 2848
    “…There were 22 novel mutations in F8, including missense (8), frameshift (9), splice site (3), large deletion (1) and nonsense (1) mutations. In HB patients, four novel mutations were identified including the splice site (1), small deletion (1), large deletion (1) and missense (1) mutation. …”
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    Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population
  9. 2849
    “…Whole exome sequencing identified a homozygous nonsense mutation (p.Q92*) in the MIEF2 gene encoding the mitochondrial dynamics protein of 49 kDa (MID49). …”
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    A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
  10. 2850
    “…Males amenable to exon 44 (N = 74) and exon 8 skipping (N = 18) showed prolonged ambulation compared to other exon skip groups and nonsense mutations (P = 0.035 and P < 0.01, respectively). …”
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    DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype
  11. 2851
    “…Nonsense mutations, resulting in a premature stop codon in the open reading frame of mRNAs are responsible for thousands of inherited diseases. …”
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    The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential
  12. 2852
    “…RESULTS: Gene sequencing showed a novel nonsense mutation (c.745G > T, p.E249X), which locates at a highly conserved region containing residues p.240–266 (LOOP-1) in the PLS3 gene. …”
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    Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18
  13. 2853
    “…Genetic analysis of the proband's pedigree revealed that the nonsense mutation co-segregated with AF in the family with complete penetrance. …”
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    A SHOX2 loss-of-function mutation underlying familial atrial fibrillation
  14. 2854
    “…NF1 mutations were found throughout the gene, and comprised missense, frame-shift and nonsense mutations. One mutation hotspot, at amino acid threonine 676 (Thr676), was found in 27% of AML patients with NF1 mutations. …”
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    NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome
  15. 2855
    “…CASE PRESENTATION: We report a 16-year-old patient with a T(low) B(+) NK(+) cellular immunodeficiency due to a novel nonsense mutation in exon 8 (p.R328X) of the IL2RG gene. …”
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    IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
  16. 2856
    “…We found that 12.1% of the 290 investigated stillbirth cases had one (n = 31) or two (n = 4) variants with evidence supporting pathogenicity, i.e. loss-of-function variants (nonsense, frameshift, splice site substitutions), evidence from functional studies, or previous identification of the variants in affected individuals. …”
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    Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth
  17. 2857
    “…All the patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C. …”
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    Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
  18. 2858
    “…The second mutation identified in GANAB locus, p.Arg61Ter: c.181C > T, a nonsense type, CGA > TGA. The mutation is unreported pathogenic variant can cause loss of the glucosidase II alpha subunit normal protein function. …”
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    GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease
  19. 2859
    “…In total, we identify ACE-tRNA with a high degree of suppression activity targeting the most common human disease-causing nonsense codons. Genome-wide transcriptome ribosome profiling of cells expressing ACE-tRNA at levels which repair PTC indicate that there are limited interactions with translation termination codons. …”
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    Engineered transfer RNAs for suppression of premature termination codons
  20. 2860
    “…A second case with a nonsense mutation in MSH was also detected, namely MMR_c.1030C>T (p.Q344X).…”
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    Stratification of patients with colorectal cancer without the recorded family history
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