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  1. 3981
    “…Recently it was shown that a specific form of male infertility in Holstein cattle was caused by a nonsense variant in the α/β-hydrolase domain-containing 16B (ABHD16B) gene resulting in a protein truncation at amino acid position 218 (p.218Q*) and loss of function. …”
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    α/β-Hydrolase D16B Truncation Results in Premature Sperm Capacitation in Cattle
  2. 3982
    “…The clinical presentation of the affected siblings in both families is also consistent with previous reports from individuals with homozygous CNTNAP2 variants where at least one allele was a nonsense variant, frameshift or small deletion. Our data suggests that homozygous CNTNAP2 missense variants can also contribute to disease, thereby expanding the genetic landscape of CNTNAP2 dysfunction.…”
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    Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
  3. 3983
    “…Furthermore, seven variants, including one nonsense variant and six missense variants, were identified in the coding region of PARD3 in sporadic cases with NSCP. …”
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    PARD3 gene variation as candidate cause of nonsyndromic cleft palate only
  4. 3984
    “…Whole-exome sequencing (WES) revealed three novel heterozygous variants in the SOX11 gene, including two missense variants of c.337T>C (p.Y113H) and c.425C>G (p.A142G), and one nonsense variant of c.820A>T (p. K142*). Luciferase reporting assay shows that the two missense variants impair the transcriptional activity of the SOX11 target gene GDF5. …”
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    Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
  5. 3985
    “…She was homozygous for a novel nonsense mutation in SLC29A3 (c.1284C>G, p.Tyr428*). …”
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    Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
  6. 3986
    “…DNA analysis performed on the two siblings revealed a nonsense mutation in exone 5 of the PHEX gene: NM_000444.6(PHEX):c.565C > T (p.Gln189Ter). …”
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    Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review
  7. 3987
    “…The variants included three loss of function variants (two frameshift, one nonsense) and two highly conserved missense substitutions located in the catalytic phosphorylation domain. …”
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    Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
  8. 3988
    “…(Ser275Asnfs*13) resulting in nonsense-mediated mRNA decay of the CACNA2D1 transcripts, and absence of α(2)δ-1 protein detected in patient-derived fibroblasts. …”
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    Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
  9. 3989
    “…Analyzing the mutations, a total of 202 single-nucleotide polymorphisms (SNPs) were identified among the 34 genomes sequenced, of which 127 were missense, 74 synonymous, and one was a nonsense mutation. Among the missense mutations, C14408T, A23403G, T27299C, G28881A G28883C, and T29148C were the most prevalent within the dataset. …”
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    Genomic surveillance: Circulating lineages and genomic variation of SARS-CoV-2 in early pandemic in Ceará state, Northeast Brazil
  10. 3990
    “…Of note, the two patients with heterozygous nonsense variant of KMT2D were at stage III, without bone marrow infiltration. 6q LOH was also identified in two others, out of the seven patients. …”
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    Genetic features of B‐cell lymphoblastic lymphoma with TCF3‐PBX1
  11. 3991
    por Zhang, Yun-Yan, Lou, Yan, Yan, Han, Tang, Hao
    Publicado 2022
    “…Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene, exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation. …”
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    CCNO mutation as a cause of primary ciliary dyskinesia: A case report
  12. 3992
    “…Among the DCM subjects, variants were detected in two cases with the TTN nonsense variants, while the others were missense and identified in MYH7, DRSP3, MYBPC3, and SCN5A. …”
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    Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service
  13. 3993
    “…Furthermore, we identified two novel pathogenic variants in DNAJC30: the nonsense variant c.610G>T;p.(Glu204*) and the in-frame deletion c.230_232del;p.…”
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    DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy
  14. 3994
    “…A novel combination of the p.Arg234Trp Bothnia variant with a nonsense variant in trans led to Bothnia dystrophy in 2 sisters. …”
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    Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy
  15. 3995
    “…Bilaterally affected patients were diagnosed earlier when compared to unilaterally affected patients (11 ± 7 months versus 20 ± 14 months, p = 0.0002). Furthermore, nonsense mutations were abundant (n = 14), followed by frameshift mutations (n = 8), splicing site mutations (n = 5), while missense mutations were few (n = 3). …”
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    Five novel RB1 gene mutations and genotype–phenotype correlations in Chinese children with retinoblastoma
  16. 3996
    “…RNA sequencing analysis finds two BRCA2 isoforms, BRCA2-201/Long and BRCA2-001/Short, respectively predicted to be sensitive and insensitive to nonsense-mediated decay. BRCA2-001/Short is expressed more frequently in recurrences and associated with reduced overall survival in breast cancer (87 vs. 121 months; Hazard Ratio = 2.5 [1.18–5.5]). …”
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    Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
  17. 3997
    “…Moreover, our large-scale phylogenomic analyses comparing meiosis-related transcripts of B. oldhamii ‘Xia Zao’ with well annotated genes in 22 representative angiosperms and sequence evolution analyses reveal two core meiotic genes NO EXINE FORMATION 1 (NFE1) and PMS1 with nonsense mutations in their coding regions, likely providing another line of evidence supporting embryo abortion in B. oldhamii ‘Xia Zao’. …”
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    Comparative phylogenomic analyses and co-expression gene network reveal insights in flowering time and aborted meiosis in woody bamboo, Bambusa oldhamii ‘Xia Zao’ ZSX
  18. 3998
    “…Background: Up frameshift protein 1 (UPF1) is a key component of nonsense-mediated mRNA decay (NMD) of mRNA containing premature termination codons (PTCs). …”
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    Identification and Validation of UPF1 as a Novel Prognostic Biomarker in Renal Clear Cell Carcinoma
  19. 3999
    “…Using viral whole genome sequencing, we identified twenty-five total clinical samples with ORF-disrupting mutations, including twenty samples encoding nonsense mutations in MPXVgp001/191 (OPG001), MPXVgp004/188 (OPG015), MPXVgp010 (OPG023), MPXVgp030 (OPG042), MPXVgp159 (OPG0178), or MPXVgp161 (OPG181). …”
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    ORF-Interrupting Mutations in Monkeypox Virus Genomes from Washington and Ohio, 2022
  20. 4000
    “…Here, we analyzed alternative splicing and mutation of genes in TCGA-HNSCC samples and identified seven potential tumor antigens, including SREBF1, LUC7L3, LAMA5, PCGF3, HNRNPH1, KLC4, and OFD1, which were associated with nonsense-mediated mRNA decay factor expression, overall survival prognosis and the infiltration of antigen-presenting cells. …”
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    Identification of tumor antigens and immune subtypes in head and neck squamous cell carcinoma for mRNA vaccine development
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