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  1. 3141
    “…RESULTS: A total of 110 patients had 51 different truncating (nonsense, frameshifting, large deletions, and canonical splicing) variants, whereas 52 patients had 31 different nontruncating (missense, in-frame, noncanonical splicing, and stop-loss) changes. …”
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    The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype
  2. 3142
    “…RESULTS: In this study, we detected three heterozygous mutations, including novel compound mutations of (c.1840–4delA and c.1840_1844delGTTGC), splice site mutation of c.1570+3A>C, and a previously known nonsense mutation c.1402C>T in the ATP2C1 gene. Combined with our previous study, ten patients with c.1402C>T mutation in the ATP2C1 gene have been identified, and all these patients originated from Jiangxi Province. …”
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    Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey–Hailey Disease
  3. 3143
    “…Contrary to the expectations, no developmental defects were observed in the zebrafish with a parn nonsense mutation. Intriguingly, the parn null mutants were viable and fertile, but turned out to only develop into males. …”
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    Poly (A)-specific ribonuclease deficiency impacts oogenesis in zebrafish
  4. 3144
    “…Interestingly, only a subset of mRNAs requires Dhh1 for targeting by Dcp2, and also generally requires the other decapping activators Pat1, Edc3, or Scd6; whereas most of the remaining transcripts utilize nonsense-mediated mRNA decay factors for Dcp2-mediated turnover. …”
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    Decapping factor Dcp2 controls mRNA abundance and translation to adjust metabolism and filamentation to nutrient availability
  5. 3145
    “…Although STSs generally have low mutational burdens, the most commonly mutated genes are tumor suppressors, which frequently acquire mutations inducing nonsense-mediated mRNA decay (NMD). This suggests that STS cells may exploit NMD to suppress these anti-cancer genes. …”
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    Characterization of a rhabdomyosarcoma reveals a critical role for SMG7 in cancer cell viability and tumor growth
  6. 3146
    “…RESULTS: Frameshift mutations: c.1628_1629insA and c.1624_1625insT with a frequency of (46%) and (18%), respectively, Nonsense mutations: c.1181C>A (p.Ser394Ter) was detected in one patient, missense mutations: c.1226A>G (p.Gln409Arg), c.1270T>C (p.Trp424Arg), c.1270_1271delins2 (p.Trp424Leu), with a frequency of (4%) were detected. …”
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    Germline mutations of B-Raf proto-oncogene and pathological implications in prostate cancer: observational study
  7. 3147
    “…A total of 54,000 SNPs/indels were identified, among which 1300 were estimated to have a moderate impact (non-synonymous variants), while 120 were estimated to have a high impact (e.g., missense/nonsense/frameshift variants). The latter were then analyzed for their effect on gene functionality. …”
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    Genomic Analysis Highlights Putative Defective Susceptibility Genes in Tomato Germplasm
  8. 3148
    “…CASE PRESENTATION: We report a 2-year-old female whose PNH was associated with a nonsense mutation in the q28 region of the X chromosome, in exon 31 of FLNA (c.5159dupA). …”
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    Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review
  9. 3149
    “…More than 3,100 different pathogenic variants have been reported in the NF1 gene, including missense, nonsense, frameshift, in-frame, splicing, and large deletions. …”
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    Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
  10. 3150
    “…It is thought that the LDLR variant causes a protein to be prematurely truncated, likely through nonsense-mediated protein decay. The LDLR variant is strongly predicted to be pathogenic in accordance with ACMG guidelines and co-segregated with the FH clinical characteristics of the family. …”
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    Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights
  11. 3151
    “…However, p53(E221D/E221D) RNA transcribed from the endogenous locus is mis-spliced resulting in nonsense mediated decay. Moreover, fibroblasts derived from p53(E221D/E221D) mice do not express a detectable protein product. …”
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    Mis-splicing Drives Loss of Function of p53(E224D) Point Mutation
  12. 3152
    “…Next, we use C > T base editors to insert nonsense mutations in PTEN in endometrial organoids and demonstrate tumorigenicity even in the heterozygous state. …”
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    One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids
  13. 3153
    “…Mdm2 and Mdm4 are found to be alternatively spliced at the exon 3 and exon 5 respectively, leading to absence of the p53-binding domain and nonsense-mediated mRNA decay (NMD) and thus relieve inhibition of p53. …”
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    Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis
  14. 3154
    “…In participants with nonsense and frameshift variants (n = 17) resulting in haploinsufficiency and mild phenotype, the TBS Z-score was negatively correlated with fracture rate (FR) (r = -0.50, p = 0.042). …”
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    Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study
  15. 3155
    “…The proliferation and differentiation of CD8(+) mucosal-associated invariant T (MAIT) cells were significantly upregulated, as were KLRD1 gene expression and the two pathways of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, and translational initiation. …”
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    Upregulated CD8(+) MAIT cell differentiation and KLRD1 gene expression after inactivated SARS-CoV-2 vaccination identified by single-cell sequencing
  16. 3156
    “…All cases with a null immunohistochemical p53 expression (n=16) showed TP53 mutations (n=9 nonsense, n=4 in-frame deletion, n=2 splice, n=1 in-frame insertion). 16 out of 18 cases with p53 overexpression showed TP53 missense mutation. …”
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    The fading guardian: clinical relevance of TP53 null mutation in high-grade serous ovarian cancers
  17. 3157
    “…The shaker-1 mouse has a nonsense mutation in Myo7a, is profoundly deaf throughout life, and has significant vestibular dysfunction. …”
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    Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B
  18. 3158
    “…Single nucleotide variants (SNVs) affecting the first nucleotide G of an exon (Fex-SNVs) identified in various diseases are mostly recognized as missense or nonsense variants. Their effect on pre-mRNA splicing has been seldom analyzed, and no curated database is available. …”
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    FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon
  19. 3159
    “…Many of these genes are regulated by the variable inclusion of exons that can trigger nonsense mediated decay. Our results suggest that dysregulation of gene expression, through shifts in alternative splicing in Tregs, contributes to T1D pathophysiology.…”
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    Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes
  20. 3160
    “…Two heterozygous variants of the GNRH1 gene were detected, nonsense variant 1: c.85G > T:p.G29* and variant 2: c.1A > G:p.M1V, which disrupted the start codon. …”
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    Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report
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