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  1. 1941
    “…In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). …”
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    Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
  2. 1942
    “…One of the variants was a splicing variant (c.5811 + 2T > C) derived from the mother, while the other was a nonsense variant (c.2006G > A) derived from the father. …”
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    Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome
  3. 1943
    por Luo, Man, Wang, Jiao‐Li
    Publicado 2022
    “…In‐silicon analysis revealed the pathogenic nonsense mutation c.2992C > T, which introduced a premature stop codon in exon 30 of RTEL1. …”
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    Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review
  4. 1944
    “…The immunopositive results may have been due to nonsense-mediated RNA decay. As immunohistochemical staining of SLCO2A1 protein may show immunopositive results, a genetic analysis should also be performed when CEAS is strongly clinically suspected.…”
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    Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) with Positive Immunohistochemistry for SLCO2A1 Protein
  5. 1945
    “…RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. …”
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    A Novel Missense PRKAR1A Variant Causes Carney Complex
  6. 1946
    “…Upf1, Upf2, and Upf3, the central regulators of nonsense-mediated mRNA decay (NMD), appear to exercise their NMD functions while bound to elongating ribosomes, and evidence for this conclusion is particularly compelling for Upf1. …”
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    Ribosome-bound Upf1 forms distinct 80S complexes and conducts mRNA surveillance
  7. 1947
    “…Nonsense-mediated RNA decay (NMD) is a highly conserved RNA turnover pathway that degrades RNAs harboring in-frame stop codons in specific contexts. …”
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    Progression of the pluripotent epiblast depends upon the NMD factor UPF2
  8. 1948
    por Storey, Emily C., Fuller, Heidi R.
    Publicado 2022
    “…Additionally, exon 6 of the emerin gene, EMD, may be a mutation “hot-spot”, and diseases related to SYNE1, encoding nesprin-1, are most often caused by nonsense type mutations. These results provide insight into the diverse roles of LINC-complex proteins in human disease and provide direction for future gene-targeted therapy development.…”
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    Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary
  9. 1949
    “…The genotype-to-phenotype correlation suggests that this phenotype is associated with homozygous or compound heterozygous nonsense or deletion variants with frameshift leading to translation interruption in the SLC45A2 gene. …”
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    Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
  10. 1950
    por Chen, Congli, Wu, Jin, Liu, Ying
    Publicado 2023
    “…A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A. …”
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    Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
  11. 1951
    por Richter, Duncan
    Publicado 2010
    Tabla de Contenidos: “…Diamond's Wittgensteinian argument for vegetarianism -- Part 1. Sense and nonsense in moral philosophy -- Part 2. Reason, rights, and persons -- Part 3. …”
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    Libro
    Ethics after Anscombe : post "Modern moral philosophy" /
  12. 1952
    por Gordin, Michael D
    Publicado 2012
    “…The Pseudoscience Wars simultaneously reveals the surprising Cold War roots of our contemporary dilemma and points readers to a different approach to drawing the line between knowledge and nonsense.…”
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    The pseudoscience wars: Immanuel Velikovsky and the birth of the modern fringe
  13. 1953
    “…The mutation of SPTB (c.3936G > A) is a nonsense mutation, leading to a premature termination codon in exon 19, and the mutation in the SPTB gene is not found in any of his relatives, which indicates a de novo monoallelic mutation. …”
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    Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes
  14. 1954
    “…The automated amino acid sequence prediction allows for efficient identification of variants that are expected to result in mRNA nonsense-mediated decay or translation of truncated proteins. …”
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    SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion
  15. 1955
    “…We identified a rare homozygous nonsense mutation in a previously uncharacterized gene, RNF212B, as the causative variant. …”
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    A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure
  16. 1956
    “…Whole-exome sequencing and Sanger analysis revealed a novel missense variant in KIAA0825 (c.3572C>T: p.Pro1191Leu) in family A and a known nonsense variant in GLI1 (c.337C>T: p.Arg113*) in family B. …”
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    Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
  17. 1957
    “…Three other alleles result from point mutations: a missense mutation of the start codon, a frameshift, and a nonsense mutation. A. niger strain ATCC 1015 has a full-length aoxB gene. …”
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    Mutations in the Second Alternative Oxidase Gene: A New Approach to Group Aspergillus niger Strains
  18. 1958
    “…Gly205Ala ), and one nonsense, c.375G>A (p.Trp125*), were identified in the TSPAN12 gene in this study. …”
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    Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy
  19. 1959
    “…Cells devoid of Pab1 also manifested a nonsense codon readthrough phenotype indicative of a defect in translation termination, but this defect may be a direct effect of the loss of Pab1 as it could not be attributed to significant reductions in the levels of release factors.…”
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    Direct and indirect consequences of PAB1 deletion in the regulation of translation initiation, translation termination, and mRNA decay
  20. 1960
    “…RESULTS: A novel pathogenic missense variant in WFS1: c.1897G>C; p.V633L, a novel pathogenic nonsense variant in RP1: c.6344T>G; p.L2115* and a predicted pathogenic missense variant in NOD2: c.2104C>T; p.R702W are reported. …”
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    Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family
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