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  1. 2901
    “…In one of the two patients, we could identify a nonsense variant in the PAH gene ATP13A3. The second patient showed a missense variant of the CYP1B1 gene, which might be linked to PAH predisposition. …”
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    Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients
  2. 2902
    por Xu, Yi, Prom-on, Santitham
    Publicado 2019
    “…Analysis of formant trajectories shows that dynamic extremes in meaningful speech sometimes even exceeded those in the nonsense syllable sequences but that this happened more often in unstressed syllables than in stressed syllables. …”
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    Economy of Effort or Maximum Rate of Information? Exploring Basic Principles of Articulatory Dynamics
  3. 2903
    “…Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that recognizes post-transcriptionally abnormal transcripts and mediates their degradation. …”
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    Insights into the Effects of Cancer Associated Mutations at the UPF2 and ATP-Binding Sites of NMD Master Regulator: UPF1
  4. 2904
    “…Functional class analyses suggested an association with variants in the nonsense class (nonsynonymous variant that results in truncation of, and usually non-functional, protein) with both outcomes. …”
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    A preliminary investigation of rare variants associated with genetic risk for PTSD in a natural disaster-exposed adolescent sample
  5. 2905
    “…We employed CRISPR-mediated homology directed repair to introduce a nonsense mutation into pyrF. For both editing systems, homologous recombination between the repair template and the genome appeared to be the limiting step. …”
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    Development of both type I–B and type II CRISPR/Cas genome editing systems in the cellulolytic bacterium Clostridium thermocellum
  6. 2906
    “…Last, two other NSS in ERG3 and ERG4 (ergosterol biosynthesis) resulting in nonsense mutations were revealed in AmB-resistant isolates, one of which accumulated the two ERG NSS. …”
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    Comparative Genomics for the Elucidation of Multidrug Resistance in Candida lusitaniae
  7. 2907
    “…RESULTS: A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. …”
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    Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
  8. 2908
    “…Patients suffering from muscular dystrophy and atrioventricular block were found to carry missense and nonsense mutations in either of the three POPDC genes, which suggests an important function in the control of striated muscle homeostasis. …”
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    The Role of the Popeye Domain Containing Gene Family in Organ Homeostasis
  9. 2909
    “…The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the mRNA leads to a wide spectrum of clinical phenotypes including progressive kyphoscoliosis, joint hypermobility, hypotonia, hyperelastic skin, hearing loss and aortic rupture. …”
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    The novel missense mutation Met48Lys in FKBP22 changes its structure and functions
  10. 2910
    “…For the 315 previously reported Chinese patients, TSC1 patients were more likely to be affected by nonsense mutations (51.1% vs. 20.7%, p<0.001) and had a significantly higher rate of family history than TSC2 patients (37.8% vs. 19.6%, p=0.0067). …”
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    Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients
  11. 2911
    “…In summary, cDNA analysis confirmed that the c.1421+2T>C variant activates a cryptic splice site, resulting in a truncated transcript (c.1414_1421del, p.Val472Leufs*20) and the c.1041dup variant results in a defective transcript that is likely degraded by nonsense-mediated mRNA decay. The present study functionally characterizes two variants and provides further confirmatory evidence that CDC14A is associated with a rare form of hereditary hearing loss.…”
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    Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
  12. 2912
    “…Genetic analysis showed vertical transmission of the disease-causing mutations, including a homozygous deletion in NPHP1 and a nonsense mutation in ACE found via PCR-based single nucleotide polymorphism screening. …”
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    Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening
  13. 2913
    “…We searched the NCBI and Ensembl gene databases and identified four alternatively spliced CDO1 coding mRNA transcripts, as well as 148 validated CDO1 gene variants, including 138 missense, 6 nonsense, 1 frameshift, 1 in-frame deletion, and 2 splice site variants. …”
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    Molecular analysis of the human placental cysteine dioxygenase type 1 gene
  14. 2914
    “…Whole‐exome sequencing was performed to search for the genetic background. RESULTS: A novel nonsense and mosaic variant was identified in exon 1 of MECP2, and the variant allele fraction (VAF) was 28%. …”
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    MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
  15. 2915
    “…A homozygous c.105C>G (p.Tyr35Ter) nonsense mutation was detected in the CYB5A gene. Hormonal studies showed isolated 17,20-lyase deficiency. …”
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    Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility
  16. 2916
    “…Neoantigen expression in OS was lacking and significantly associated with high levels of nonsense-mediated decay (NMD). Samples with low immune infiltrate had higher number of deleted genes while those with high immune infiltrate expressed higher levels of adaptive resistance pathways. …”
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    Immuno-genomic landscape of osteosarcoma
  17. 2917
    “…We observed thousands of AUG-initiated upstream open reading frames (uORFs) that are a major contributor to translation repression. uORF use depends on the Kozak sequence context of its start codon, and uORFs with strong contexts promote nonsense-mediated mRNA decay. Transcript leaders in Cryptococcus and other fungi are substantially longer and more AUG-dense than in Saccharomyces. …”
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    Quantitative global studies reveal differential translational control by start codon context across the fungal kingdom
  18. 2918
    “…Several mRNA isoforms promoted by the various splicing factor mutants comprise a premature termination codon (PTC) and are therefore potential targets of nonsense-mediated mRNA decay (NMD). In light of the mechanistic relationship between splicing and NMD, we sought evidence for a specific role of mutant SRSF2 in NMD. …”
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    Recurrent SRSF2 mutations in MDS affect both splicing and NMD
  19. 2919
    “…Most of the mutations are missense/nonsense, however, a few splicing mutations within or close to conserved consensus donor or acceptor splice sites have also been described. …”
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    A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
  20. 2920
    “…After negative results of different targeted sequencing strategies, exome sequencing identified a homozygous nonsense mutation (p.Q1010(*)) in the LRBA gene more than 21 years after the patient's initial presentation. …”
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    Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
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