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  1. 3001
    “…The simultaneous emergence of nonsense mutations in ERG3 and ERG11 was shown to decrease amphotericin B susceptibility, accompanied with fluconazole cross-resistance. …”
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    Genome-Wide Analysis of Experimentally Evolved Candida auris Reveals Multiple Novel Mechanisms of Multidrug Resistance
  2. 3002
    “…The aberrant spliced transcript was sensitive to nonsense-mediated mRNA decay, leading to the decreased stability of ABCB1 mRNA and prevention of the 24-h oscillation of P-gp expression. …”
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    RNA editing enzyme ADAR1 governs the circadian expression of P-glycoprotein in human renal cells by regulating alternative splicing of the ABCB1 gene
  3. 3003
    “…Notwithstanding the presence of PTC, the Mga variant mRNA are rather stably present in spermatocytes and spermatids due to their intrinsic inefficient background of nonsense-mediated mRNA decay. Thus, our data indicate that meiosis is controlled in a multi-layered manner in which both MAX and MGA, which constitute the core of PRC1.6, are at least used as targets to deteriorate the integrity of the complex to ensure progression of meiosis.…”
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    Identification of germ cell-specific Mga variant mRNA that promotes meiosis via impediment of a non-canonical PRC1
  4. 3004
    “…Studies of patients’ fibroblasts showed nonsense‐mediated RNA decay and lack of DOCK7 protein. …”
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    Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy
  5. 3005
    “…We demonstrate that Nphp1 gene-trap mutant mice, which were previously described as null, are likely hypomorphs due to the production of a small quantity of functional mRNAs derived from nonsense-associated altered splicing and skipping of two exons including the one harboring the gene-trap. …”
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    Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance
  6. 3006
    “…Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. …”
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    Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome
  7. 3007
    “…In total, we identified seven rare GLE1 coding variants, including one novel nonsense mutation and six rare missense mutations in 628 ALS patients. …”
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    Mutation Screening of the GLE1 Gene in a Large Chinese Cohort of Amyotrophic Lateral Sclerosis Patients
  8. 3008
    “…However, the coordination of sucking and swallowing was slightly improved. A novel paternal nonsense variant c.475G > T (p.Glu159(∗)) and a novel maternal missense variant c.1201A > G (p.Lys401Glu) in SUOX were identified in this case by co-segregation verification. …”
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    Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family
  9. 3009
    “…The third patient showed a novel nonsense variant and a novel non-canonical splice site variant. …”
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    Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
  10. 3010
    “…Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. …”
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    Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
  11. 3011
    “…CRISPR screens mimicking nonsense-mediated decay of minor intron-containing mRNAs converged on LZTR1, a regulator of Ras-related GTPases(10–12). …”
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    Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition
  12. 3012
    “…These cancer‐associated POT1 (caPOT1) mutations are generally heterozygous, missense, or nonsense mutations occurring throughout the POT1 reading frame. …”
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    Cancer‐associated POT1 mutations lead to telomere elongation without induction of a DNA damage response
  13. 3013
    “…Pathogenic germline mutations occurring in the BRCA1 (MIM:113705) and BRCA2 (MIM: 600185), which always result in truncated protein or nonsense-mediated mRNA decay, have been identified to increase the risk of hereditary breast, ovarian, pancreatic, prostate, and melanoma cancers. …”
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    A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome
  14. 3014
    “…RESULTS: Genetic work-up by WES identified a homozygous PTCH1 nonsense mutation in the tumor tissue but not present in her blood cells or in non-lesional skin. …”
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    Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy
  15. 3015
    “…The diagnostic exome sequencing test identified a hemizygous nonsense variant, NM_000397.3(CYBB):c.676C>T, p.Arg226(*) (rs137854592). …”
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    Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease
  16. 3016
    “…The “Lebanese allele” {LDLR c.2043 C>A (p.cys681X)} is a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene that results in a truncated non-functioning LDLR protein. …”
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    Variable and Severe Phenotypic Expression of the “Lebanese Allele” in Two Sisters with Familial Hypercholesterolemia
  17. 3017
    “…To date, however, there is no effective treatment for RP. By carrying a nonsense mutation in the Pde6b gene, rd1 mice display elevated cGMP in conjunction with higher intracellular Ca(2+) in their rod photoreceptors, resulting in fast retinal degeneration. …”
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    Inhibition of mTOR signaling by rapamycin protects photoreceptors from degeneration in rd1 mice
  18. 3018
    por Langley, Paul C
    Publicado 2021
    “…Previous commentaries in Innovations in Pharmacy have made the case that the ICER analytical framework is nonsensical. It abandons the standards of normal science in favor of inventing evidence through unsupported assertions regarding measurement properties and lifetime assumption driven simulations. …”
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    Peter Rabbit is a Badger in Disguise: Deconstructing the Belief System of the Institute for Clinical and Economic Review in Health Technology Assessment
  19. 3019
    “…DNA and RNA based next-generation sequencing identified and confirmed highly recurrent Yes Associated Protein 1 (YAP1) - Mastermind Like Transcriptional Coactivator 2 (MAML2) translocation (13/17, 76.5%) in metaplastic thymoma but not in micronodular thymoma with lymphoid stroma (0/7, 0%) and type A thymoma (0/9, 0%). In addition, six nonsense mutations were also detected in the metaplastic thymoma. …”
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    YAP1-MAML2 Fusion as a Diagnostic Biomarker for Metaplastic Thymoma
  20. 3020
    “…The female patient with a novel germline DICER1 nonsense mutation (c.1088_1089delCTinsAA p.F363X) in exon 8 that was inherited from her mother. …”
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    Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review
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