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  1. 1141
    “…Exome data also revealed one nonsense mutation in death-domain associated protein (DAXX), another gene previously associated with ALT, and the tumor showed ALT positivity. …”
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    Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12
  2. 1142
    “…It was confirmed that the C230X nonsense mutation completely abolished functional STEP protein expression in the brain. …”
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    STEP signaling pathway mediates psychomotor stimulation and morphine withdrawal symptoms, but not for reward, analgesia and tolerance
  3. 1143
    “…In the present study, we investigated the involvement of the prevalent XPA and XPC genes mutations—nonsense mutation (c.682C>T, p.Arg228X) and a two-base-pair (2 bp) deletion (c.1643_1644delTG or p.Val548Ala fsX25), respectively—in 19 index cases from 19 unrelated families in the West of Algeria. …”
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    Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG
  4. 1144
    “…Overall, 59% of substitutions were expressed. Nonsense mutations showed lower expression levels than expected, with patterns characteristic of nonsense-mediated decay. 14% of 4,234 rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusions, and premature polyadenylation. …”
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    Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer
  5. 1145
    “…This collection included 173 unique lasR coding variants, 116 of which were either missense or nonsense mutations. We studied 31 of these variants. …”
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    LasR Variant Cystic Fibrosis Isolates Reveal an Adaptable Quorum-Sensing Hierarchy in Pseudomonas aeruginosa
  6. 1146
    por Mondal, Anupom, Jin, J.-P.
    Publicado 2016
    “…Troponin T (TnT) is the sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles. A nonsense mutation in exon 11 of the slow skeletal muscle isoform of TnT (ssTnT) gene (TNNT1) was found in the Amish populations in Pennsylvania and Ohio. …”
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    Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T
  7. 1147
    “…However, no molecular mechanisms other than nonsense mediated decay of the messenger and possible haploinsufficiency were proposed to explain DCM. …”
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    The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca(2+) handling
  8. 1148
    “…The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. …”
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    A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
  9. 1149
    “…We combined SNP-based homozygosity mapping of two ARDS-affected Dalmatian dogs and whole genome sequencing of one affected dog to identify a case-specific homozygous nonsense variant, c.31C>T; p.R11* in the ANLN gene. …”
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    ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs
  10. 1150
    “…The fetus (VI:7) was identified as female from the cffDNA, and the same heterozygous nonsense mutation present in her mother was also confirmed. …”
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    Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)
  11. 1151
    “…First, AI analysis of nonsense mutations and frameshift indels revealed that nonsense-mediated decay is typical in cancer genomes, and we identified the relationship between the extent of AI and the location of mutations in addition to the well-recognized 50-nt rules. …”
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    Allelic imbalance of somatic mutations in cancer genomes and transcriptomes
  12. 1152
    “…YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. …”
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    New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
  13. 1153
    “…CONCLUSIONS: Individuals with NF1 and glioma are more likely to harbor nonsense mutations in the 5′ end of the NF1 gene, suggesting that the NF1 mutation may be one predictive factor for glioma in this at-risk population.…”
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    Children with 5′-end NF1 gene mutations are more likely to have glioma
  14. 1154
    “…The bladder carcinoma patients with Fanconi anemia nonsense variants display a BRCA-deficiency somatic mutation signature, suggesting treatment targeted to DNA repair.…”
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    Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas
  15. 1155
    “…DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). …”
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    Carney complex with PRKAR1A gene mutation: A case report and literature review
  16. 1156
    “…BACKGROUND: Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia. …”
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    UPF1 silenced cellular model systems for screening of read-through agents active on β(0)39 thalassemia point mutation
  17. 1157
    “…CONCLUSIONS: In general, we detect three novel heterozygous mutations including a splicing mutation and a nonsense mutation in NIPBL and a frame shift in CREBBP. …”
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    Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
  18. 1158
    “…Targeted sequencing followed by Sanger sequencing revealed that these two patients carried the compound heterozygotes of a novel nonsense mutation c.5170G>T (p.Glu1724Ter) and a known nonsense mutation c.748C>T (p.Arg250Ter) in the ATM gene. …”
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    Clinical diagnosis and genetic counseling of atypical ataxia-telangiectasia in a Chinese family
  19. 1159
    por Ho, Alexander T., Hurst, Laurence D.
    Publicado 2019
    “…Additional stop codons (ASCs) are in-frame nonsense ‘codons’ downstream of the primary stop which may be read by translational machinery should the primary stop have been accidentally read through. …”
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    In eubacteria, unlike eukaryotes, there is no evidence for selection favouring fail-safe 3’ additional stop codons
  20. 1160
    “…In addition, we explored the effects of read-through reagents on RET nonsense mutations and showed that G418 significantly increased the full-length RET protein expression of p.Y263X in a dose-dependent manner, together with a mild recovery of p-ERK and p-STAT3. …”
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    Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease
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