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  1. 3801
    “…RESULTS: We identified a homozygous nonsense mutation in CEP55 segregating with MARCH. …”
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    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
  2. 3802
    “…Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. …”
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    Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
  3. 3803
    “…RESULTS: We found a homozygous nonsense mutation W77X and a homozygous missense mutation C169W in 5.55% of studied families in GJB2 and GJB4 genes, respectively. …”
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    Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran
  4. 3804
    “…Direct sequencing of DAX1 of the patient revealed a hemizygous cytosine-to-thymine substitution at nucleotide 64 in exon 1, which creates a novel nonsense mutation (p.(Gln22*)). In order to compare the clinical presentation of the patient to that of other patients with X-linked AHC, we searched the electronic database MEDLINE (PubMed) and found reports of nine other cases with delayed onset of X-linked AHC. …”
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    A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
  5. 3805
    “…We demonstrate PTC124‐induced read‐through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. …”
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    Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome
  6. 3806
    “…Recurrent mutations or losses in BCOR (the gene encoding the BCL6 corepressor) – frameshift (n=3), nonsense (n=2), splicing site (n=1), and copy number loss (n=4) – were identified in 10/42 samples of splenic diffuse red pulp lymphoma (24%), whereas only one frameshift mutation was identified in 46 cases of splenic marginal zone lymphoma (2%). …”
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    Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
  7. 3807
    “…In contrast, no 6-OAU-induced microglial membrane ruffling and motility was observed in microglia from DBA/2 mice, a mouse strain that does not express functional GPR84 protein due to endogenous nonsense mutation of the GPR84 gene. CONCLUSIONS: GPR84 mediated signaling causes microglial motility and membrane ruffling but does not promote pro-inflammatory responses. …”
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    Agonists for G-protein-coupled receptor 84 (GPR84) alter cellular morphology and motility but do not induce pro-inflammatory responses in microglia
  8. 3808
    “…The characterization of GBAP1 splicing identified multiple out-of-frame isoforms down-regulated by the nonsense-mediated mRNA decay, suggesting that GBAP1 levels and, accordingly, its ceRNA effect, are significantly modulated by this degradation process. …”
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    The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p
  9. 3809
    “…In individuals with homozygous CFHR1 deletions or compound heterozygous CFHR2 missense/nonsense mutations identified in this study, the respective FHR-1 and FHR-2 homo- and heterodimers were absent. …”
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    Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma
  10. 3810
    “…However, albeit the mutations were predicted to lead to nonsense mediated mRNA decay, we could not detect changes upon expression levels, protein localization or cilia length in KIZ-mutated fibroblast cells. …”
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    Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy
  11. 3811
    “…Whole-exome sequencing of the family revealed a de novo nonsense mutation (T168fsX191) in the Transcription Factor 3 (TCF3) gene encoding the E2A transcription factors, present only in the proband and her son. …”
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    Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus
  12. 3812
    “…Novel compound heterozygous nonsense mutations, c.1420G>T (p.Q474∗) and c.3262G>T (p.E1088∗), in the SKIV2L gene were identified in the patient, and decreased levels of SKIV2L protein expression were revealed by flow cytometry and confirmed by western blot analysis using patient peripheral blood mononuclear cells (PBMCs). …”
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    Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report
  13. 3813
    “…Histopathology from an Achilles tendon biopsy revealed tendinous xanthoma and molecular analysis confirmed a homozygous nonsense mutation, c.1072C>T (p.Gln358Ter), in exon 6 of the CYP27A1 gene. …”
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    Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review
  14. 3814
    “…A cycloheximide treatment further revealed that the S-GCN5 splice variant was degraded through the nonsense-mediated decay pathway. All alternative BdGCN5 transcripts displayed similar transcript profiles, being induced during early exposure to heat and displaying higher levels of accumulation in the crown, compared to aerial tissues. …”
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    Diversification of the Histone Acetyltransferase GCN5 through Alternative Splicing in Brachypodium distachyon
  15. 3815
    “…We found that the adrenal cortex of our patient showed a low ARMC5 messenger ribonucleic acid expression compared with normal adrenal cortex, possibly as a result of nonsense-mediated messenger ribonucleic acid decay CONCLUSIONS: We demonstrated extensive genetic diversity of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia that started with exophthalmos, which contributes to further understanding of the pathogenesis of this disease. …”
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    Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report
  16. 3816
    “…Cells that were not transfected (Lipofectamine only) and cells that were transfected with nonsense RNA negative control served as control. MTT assay was utilized to detect cell viability, and cell wound scratch assay was utilized to examine the migration index. …”
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    Decreased MiR-17 in glioma cells increased cell viability and migration by increasing the expression of Cyclin D1, p-Akt and Akt
  17. 3817
    “…The present study introduces eight comic styles (i.e., fun, humor, nonsense, wit, irony, satire, sarcasm, and cynicism) and examines the validity of a set of 48 marker items for their assessment, the Comic Style Markers (CSM). …”
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    Broadening Humor: Comic Styles Differentially Tap into Temperament, Character, and Ability
  18. 3818
    “…Interestingly, among these 20 variants, we detected 2 likely pathogenic variants: a nonsense variant (XIRP2‐Q2875*) and a frameshift variant (XIRP2‐T2238QfsX7). …”
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    Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population
  19. 3819
    por Benjak, Andrej, Avanzi, Charlotte, Singh, Pushpendra, Loiseau, Chloé, Girma, Selfu, Busso, Philippe, Fontes, Amanda N. Brum, Miyamoto, Yuji, Namisato, Masako, Bobosha, Kidist, Salgado, Claudio G., da Silva, Moisés B., Bouth, Raquel C., Frade, Marco A. C., Filho, Fred Bernardes, Barreto, Josafá G., Nery, José A. C., Bührer-Sékula, Samira, Lupien, Andréanne, Al-Samie, Abdul R., Al-Qubati, Yasin, Alkubati, Abdul S., Bretzel, Gisela, Vera-Cabrera, Lucio, Sakho, Fatoumata, Johnson, Christian R., Kodio, Mamoudou, Fomba, Abdoulaye, Sow, Samba O., Gado, Moussa, Konaté, Ousmane, Stefani, Mariane M. A., Penna, Gerson O., Suffys, Philip N., Sarno, Euzenir Nunes, Moraes, Milton O., Rosa, Patricia S., Baptista, Ida M. F. Dias, Spencer, John S., Aseffa, Abraham, Matsuoka, Masanori, Kai, Masanori, Cole, Stewart T.
    Publicado 2018
    “…Some of the previously undescribed mutations occur in genes that are apparently subject to positive selection, and two of these (ribD, fadD9) are restricted to drug-resistant strains. Finally, nonsense mutations in the nth excision repair gene are associated with greater sequence diversity and drug resistance.…”
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    Phylogenomics and antimicrobial resistance of the leprosy bacillus Mycobacterium leprae
  20. 3820
    “…The results of the GO analysis indicated that the DEGs included in the top module of the PPI were mainly enriched in the terms ‘nuclear-transcribed mRNA catabolic process’, ‘nonsense mediated decay’, and ‘cytoplasmic translation and ribosomal small subunit biogenesis’. …”
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    Identification of genes and pathways in the synovia of women with osteoarthritis by bioinformatics analysis
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