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  1. 1381
    por Robison, Tanner A., Wolf, Paul G.
    Publicado 2019
    “…METHODS AND RESULTS: We developed an R package to automatically annotate apparent nonsense mutations in plastid genomes. The software successfully annotates such sites and results in no false positives for data with no sequencing or assembly errors. …”
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    ReFernment: An R package for annotating RNA editing in plastid genomes
  2. 1382
    “…In this review, we focus on the roles of Tspm and Spd to facilitate the translation of mRNAs containing upstream ORFs (uORFs), premature stop codons, and ribosome stalling sequences that may block translation, thus preventing their degradation by quality control mechanisms such as the nonsense-mediated decay pathway and possible interactions with other mRNA quality surveillance pathways.…”
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    Polyamines as Quality Control Metabolites Operating at the Post-Transcriptional Level
  3. 1383
    “…We generated two induced pluripotent stem cell (iPSC) lines from DMD patients with nonsense mutations in exons 68 (UCLi011-A) or 70 (UCLi012-A) by transfecting reprogramming mRNAs. …”
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    Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping
  4. 1384
    “…Specifically, the EJC’s core components and its associated proteins regulate different steps of gene expression, including pre-mRNA splicing, mRNA export, translation, and nonsense-mediated mRNA decay (NMD). This review summarizes the most important functions and main protagonists in the life of the EJC. …”
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    A Day in the Life of the Exon Junction Complex
  5. 1385
    “…Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. …”
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    A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
  6. 1386
    por Beemon, Karen L.
    Publicado 2022
    “…This review will discuss the sorting of RNAs for packaging or translation, RNA nuclear export mechanisms, splicing, translation, RNA modifications, and avoidance of nonsense-mediated RNA decay.…”
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    Retroviral RNA Processing
  7. 1387
    “…Genomic sequencing revealed a heterozygous nonsense PAX2 mutation (C > G p. (Tyr73*) at position 219 in exon 3) associated with PAPRS. …”
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    De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity
  8. 1388
    “…In addition, WES identified five frameshift mutations, three nonsense mutations, two missense mutations, and one exon deletion. …”
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    Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy
  9. 1389
    “…Furthermore, the potential impact of the nonsense-mediated decay (NMD) mechanism on the manifestation of CORD phenotypes was examined and addressed. …”
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    Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
  10. 1390
    “…FINDINGS: We identified a novel nonsense ETV6 variant (p.R359X) with a high penetrance of familial ALL. …”
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    Germline Genetic Variation in ETV6 and Risk of Childhood Acute Lymphoblastic Leukemia: a Systematic Genetic Study
  11. 1391
    “…However, we observed a second rare damaging (nonsense) homozygous mutation (c.C2125T/p.R709X) in the leucine-rich repeats and immunoglobulin-like domains 2 gene that encodes a protein implicated in neural cell signaling and oncogenesis. …”
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    Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
  12. 1392
    “…Interestingly, two mutations in the OTOF gene were identified in two affected siblings with ANSD from a Chinese family, including one nonsense mutation c.1273C > T (p.R425X) and one missense mutation c.4994 T > C (p.L1665P). …”
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    Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder
  13. 1393
    “…She was heterozygous for the BSEP deletion p.T919del and the nonsense mutation p.R1235X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. …”
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    Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation
  14. 1394
    “…These included a frameshift mutation c.1508_1509insT (p.Thr504HisfsTer19), a missense mutation c.1681C > T (p.Pro561Ser) and a nonsense mutation c.918C > G (p.Tyr306Ter). Of the three mutations in the PCDH19 gene associated with early infantile epileptic encephalopathy, the frameshift variation in a mosaic male is novel and de novo, the missense variation is de novo and is the second ever reported in females, and the nonsense variation was inherited from the paternal line and is the first example discovered in a female. …”
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    Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
  15. 1395
    “…Altogether, 33 distinct BRCA1 mutations were observed, among which 27 were deleterious (12 frameshifts, 8 nonsense, 1 missense, 3 splice-site variants, 2 big deletions and 1 large duplication) and 6 were VUS. …”
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    Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India
  16. 1396
    “…Thus, our studies have identified a mutant mouse model for inherited renal calcification associated with a Polg2 nonsense mutation. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals, Inc.…”
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    An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice
  17. 1397
    “…One SNP was located upstream of the start codon and all the others were non-synonymous SNPs, including a nonsense SNP. The TG repeat polymorphism would lead to a reading frame shift at the carboxyl-terminal end. …”
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    Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
  18. 1398
    “…Hypogonadism occurred more frequently in homozygotes with missense mutations (72.55%) than in those with nonsense mutations (35.71%; P=2.43×10(-2)). Liver biopsy was accepted by more probands with frame-shift or missense mutations (85.71% and 60.78%, respectively) than by those with nonsense mutations (28.57%; P=2.37×10(-2), 3.93×10(-2)). …”
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    Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
  19. 1399
    “…A previous study found that a nonsense mutation (rs378652941, c.483C > A, p.Cys161X) in bovine transmembrane protein 95 gene (TMEM95) seriously reduced reproductive performance in male Fleckvieh cattle; therefore, this locus was considered a candidate genetic marker in bovine marker-assisted selection (MAS) breeding. …”
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    Detection of Bovine TMEM95 p.Cys161X Mutation in 13 Chinese Indigenous Cattle Breeds
  20. 1400
    “…Furthermore, we characterized previously undescribed nonsense variant c.1507C > T; p.(Gln503*), resulting in a premature stop codon and mRNA degradation through nonsense-mediated decay. …”
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    Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report
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