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  1. 1121
    “…WES demonstrated a novel homozygous nonsense variant in DNAH11 (c.5247G > A; p. Trp1749Ter). …”
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    DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature
  2. 1122
    “…New compound heterozygous PTPRQ gene mutations, nonsense (c.90C > A, p.Y30X) and splice (c.5426 + 1G > A) mutations in two PTPRQ alleles, were identified in the two sisters and were presumably autosomal recessive. …”
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    Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
  3. 1123
    “…Functional studies supported escape from nonsense-mediated decay, but western blot analysis demonstrated complete absence of full-length protein in the affected child and a marked reduction in both parents. …”
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    Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
  4. 1124
    “…Moreover, SerRS overexpression was sufficient to reverse premature termination caused by a pathogenic nonsense mutation. Our findings expand the repertoire of selenoprotein biosynthesis machinery and suggest an avenue for therapeutic targeting of nonsense mutations using endogenous factors.…”
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    Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery
  5. 1125
    “…All the missense mutations produce an amino acid substitution in the second intradiscal loop of the peripherin, while the nonsense mutations presumably generate a truncated protein. …”
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    High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
  6. 1126
    “…It was previously reported that in a case with nonsense mutation the mutant mRNA was absent in lymphocytes because of nonsense mediated mRNA decay (NMD) and therefore postulated that haploinsufficiency alone can give rise to the PHA1 phenotype in patients with truncated mutations. …”
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    Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
  7. 1127
    “…Unlike classic B. anthracis, this strain was motile and lacked the four prohages and the nonsense mutation. Four replicons were identified, a chromosome and three plasmids. …”
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    The Genome of a Bacillus Isolate Causing Anthrax in Chimpanzees Combines Chromosomal Properties of B. cereus with B. anthracis Virulence Plasmids
  8. 1128
    “…Next, we screened mutations in the atr and atm genes with the HRM assay. Nonsense mutations were identified in each gene, and the phenotypes of these nonsense mutants confirmed their loss-of-function nature. …”
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    High-resolution melting curve analysis for rapid detection of mutations in a Medaka TILLING library
  9. 1129
    “…To test this postulate, 54,625 missense and nonsense mutations from 2,113 genes causing inherited disease were retrieved from the Human Gene Mutation Database http://www.hgmd.org. …”
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    Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides
  10. 1130
    “…To address this, we engineered a mouse model for the nonsense mutation 2211insGTTA (referred to as GTTA) found in MVA patients with bi-allelic BUBR1 mutations. …”
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    Reduced Life- and Healthspan in Mice Carrying a Mono-Allelic BubR1 MVA Mutation
  11. 1131
    “…Zebrafish carrying a heterozygous nonsense mutation in Leucine-Rich Repeat Containing protein 50 (lrrc50 also called dnaaf1), associated previously with ciliary function, are found to be highly susceptible to the formation of seminomas. …”
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    Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas
  12. 1132
    “…The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was studied by pyrosequencing. …”
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    Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome
  13. 1133
    “…Chileans homozygous for the rs2248374 G allele did not express 110 kDa ERAP2 protein, consistent with nonsense-mediated RNA decay, and carriers of the rs2248374 A allele did. …”
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    A novel ERAP2 haplotype structure in a Chilean population: implications for ERAP2 protein expression and preeclampsia risk
  14. 1134
    “…As a consequence of the nonsense mutation, the α10-protein was not detected in the affected cartilage tissue. …”
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    Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10
  15. 1135
    “…Comparison of the two sets demonstrates that the mutant collection has a much richer array of both nonsense and missense mutations than the wild isolate set. …”
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    The million mutation project: A new approach to genetics in Caenorhabditis elegans
  16. 1136
    “…In this study, we show that nonsense (A94fs199X) and missense (Y236S and G464R) mutations in SYN2 are associated with ASD in humans. …”
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    SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
  17. 1137
    “…Development of alloantibodies to VWF was seen in two patients, one with nonsense mutation (p.R2434*) and the other had a large deletion spanning exons 16–52. …”
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    Genetic Heterogeneity in a Large Cohort of Indian Type 3 von Willebrand Disease Patients
  18. 1138
    “…CONCLUSIONS: We hypothesize that intron retentions and consequent nonsense mediated decay may collectively counteract the over-expression of genes promoting cancer development. …”
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    The global landscape of intron retentions in lung adenocarcinoma
  19. 1139
    “…RESULT: A total of 58 nonsynonymous SNPs consisting of 55 missense variations, 3 nonsense variations were found in the ADIPOQ gene. …”
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    In silico Evaluation of Nonsynonymous Single Nucleotide Polymorphisms in the ADIPOQ Gene Associated with Diabetes, Obesity, and Inflammation
  20. 1140
    “…All learners were exposed to a continuous stream of repeating nonsense words. Prior to this implicit training, learners in the explicit group received supplementary explicit training on the nonsense words. …”
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    Functional differences between statistical learning with and without explicit training
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