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  1. 2941
    “…In this study, the pathologic findings of a patient with Alport syndrome with a novel COL4A4 heterozygous nonsense mutation were investigated. We observed weaker staining of α5(IV) in the glomerular basement membrane and enhanced expressions of α2(IV), laminin, and fibronectin, which were assumed to be caused by compensatory mechanisms for lack of enough α3α4α5(IV) expression in the glomerular basement membrane. …”
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    Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome
  2. 2942
    “…Genotyping found two significant genotype associations for ACTN3 rs1671064 (Q523R missense) p = 0.02; rs678397 (intronic SNP) p = 0.04 and one significant allele association rs1815739 (R577X nonsense) p = 0.00. Skeletal asymmetry, unusual condyle modeling and TMD are common and interrelated components of many dentofacial deformities. …”
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    Condyle modeling stability, craniofacial asymmetry and ACTN3 genotypes: Contribution to TMD prevalence in a cohort of dentofacial deformities
  3. 2943
    “…The biological processes overrepresented in infected host cells were “SRP-dependent cotranslational protein targeting to membrane”, “nuclear-transcribed mRNA catabolic process, nonsense-mediated decay”, “viral transcription” and “translational initiation”. …”
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    Quantitative proteomic dataset from oro- and naso-pharyngeal swabs used for COVID-19 diagnosis: Detection of viral proteins and host's biological processes altered by the infection
  4. 2944
    “…When coding mononucleotide repeats (cMNRs) are affected, tumors accumulate frameshift mutations and premature termination codons (PTC) potentially leading to truncated proteins. Nonsense-mediated RNA decay (NMD) can degrade PTC-containing transcripts and protect from such faulty proteins. …”
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    (Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A
  5. 2945
    “…Though circPSD3 has been shown to bind factor eIF4A3 that modulates the cellular nonsense-mediated decay (NMD) pathway, circPSD3 regulates RNA amplification in a pro-viral manner at a post-translational step, while eIF4A3 exhibits the anti-viral property of the NMD pathway. …”
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    Host-derived circular RNAs display proviral activities in Hepatitis C virus-infected cells
  6. 2946
    “…DNA and RNA were extracted from the triple set of the patient. A nonsense mutation in PKD2 (p.Arg742X), which is well known as a pathogenic variant in ADPKD, was identified in the paired triple set. …”
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    Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient
  7. 2947
    “…According to the bioinformatics analysis, the current study identified a novel frameshift mutation in exon 8 (c.2988_2989del, p.T996fs) and a rare nonsense mutation in exon 10 (c.9535C>T, p.R3179*) of the ALMS1 gene. …”
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    A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review
  8. 2948
    “…CONCLUSIONS: The identification of two Turkish families with similar characteristic clinical presentation and an additional homozygous nonsense mutation confirms that TACO1 is a human mitochondrial disease gene. …”
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    Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
  9. 2949
    “…The coupling of alternative splicing with the nonsense-mediated decay (NMD) pathway maintains quality control of the transcriptome in eukaryotes by eliminating transcripts with premature termination codons (PTC) and fine-tunes gene expression. …”
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    Murine Long Noncoding RNA Morrbid Contributes in the Regulation of NRAS Splicing in Hepatocytes In Vitro
  10. 2950
    “…Here we developed a pre-treatment prediction model for iADA development in FD using existing data from 120 classical male FD patients from three European centers, treated with ERT. We found that nonsense and frameshift mutations in the α-galactosidase A gene (p = 0.05), higher plasma lysoGb3 at baseline (p < 0.001) and agalsidase beta as first treatment (p = 0.006) were significantly associated with iADA development. …”
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    Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
  11. 2951
    “…In a Greek family, who had lost two children in the neonatal period, with prominent skin features initially resembling restrictive dermopathy, severe arthrogryposis, respiratory insufficiency and a rapid fatal course trio whole‐exome sequencing revealed the homozygous nonsense mutation c.511C>T, p.(Arg171*) in the COG6 gene. …”
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    Neonatal presentation of COG6‐CDG with prominent skin phenotype
  12. 2952
    por Pereira, Filipe
    Publicado 2020
    “…Interestingly, I detected several nonsense mutations and three main deletions in the ORF8 gene that either remove or significantly change the ORF8 protein. …”
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    Evolutionary dynamics of the SARS-CoV-2 ORF8 accessory gene
  13. 2953
    “…High-throughput sequencing of the affected proband revealed compound heterozygosity with two novel nonsense variations in the ALMS1 gene, including one variant of de novo inheritance, an unusual finding in autosomal recessive diseases. …”
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    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
  14. 2954
    “…Finally, loss of HSPA2 protection and BAG2 recruitment by NLRP14 was confirmed in a human nonsense germline variant associated with male sterility. …”
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    A noncanonical role of NOD-like receptor NLRP14 in PGCLC differentiation and spermatogenesis
  15. 2955
    por Bommier, C.
    Publicado 2020
    “…In this text, the author demonstrates that suicide must be avoided because it is nonsense for both the individual and the community. …”
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    Le suicide assisté : quand le législatif ne peut se substituer à l’existentiel
  16. 2956
    por Yang, Xiu-Fang, Liu, Guo-Sheng, Yi, Bing
    Publicado 2020
    “…Potential mutations in the SLC22A5 gene were investigated within the family, and a nonsense mutation [c.760C>T (p.R254X)] was identified in four family members. …”
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    Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports
  17. 2957
    “…Family 1 had two offspring with a homozygous truncating variant in EXOC2 that leads to nonsense-mediated decay of EXOC2 transcript, a severe reduction in exocytosis and vesicle fusion, and undetectable levels of EXOC2 protein. …”
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    Mutations in the exocyst component EXOC2 cause severe defects in human brain development
  18. 2958
    “…However, the heritability of a substantial proportion of cancers remains unexplained, which may result from rare deleterious mutations hidden in a myriad of nonsense genetic variations. This poses a great challenge to the understanding of the pathology and thus the rational design of effective treatments for affected patients. …”
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    SETD8(C302R) Mutation Revealed from Myofibroblastoma‐Discordant Monozygotic Twins Leads to p53/p21 Deficit and WEE1 Inhibitor Sensitivity
  19. 2959
    “…Nearly all GNE mutations that have been reported thus far in various ethnic populations around the world have been missense or nonsense mutations. PATIENT CONCERNS: We describe the case of a 32-year-old woman with GNE myopathy. …”
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    A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy
  20. 2960
    “…As many Ab+ patients have nonsense mutations, attention should be paid to the formation of anti-drug antibodies in Fabry patients harboring such gene mutations, who hardly produce α-Gal protein. …”
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    Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy
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