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  1. 2481
    por Zeng, Tony, Li, Yang I
    Publicado 2022
    “…In addition, Pangolin identifies loss-of-function mutations with high accuracy and recall, particularly for mutations that are not missense or nonsense, demonstrating remarkable potential for identifying pathogenic variants. …”
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    Predicting RNA splicing from DNA sequence using Pangolin
  2. 2482
    “…In the current study, we executed an in-silico analysis of all reported L2HGDH missense and nonsense variants in order to investigate their biological significance. …”
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    In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology
  3. 2483
    “…It is deposited on the mRNA during splicing and regulates diverse processes including pre-mRNA splicing and nonsense-mediated mRNA decay (NMD) via various interacting proteins. …”
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    Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance
  4. 2484
    “…Further expression analysis by using real-time reverse-transcribed PCR confirmed the occurrence of nonsense-mediated decay (NMD). Therefore, the pathogenicity of the missense mutation c.1339G > A was explicit and our study helped to extend the spectrum of pathogenic mutations in Bardet–Biedl syndrome type I.…”
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    Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation
  5. 2485
    “…There were five mutation types: nonsense, missense, frameshift, splice-site, and silent mutation. …”
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    Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer
  6. 2486
    por Nisaa, Khairun, Ben-Zvi, Anat
    Publicado 2022
    “…Here we utilized a temperature-sensitive (ts) conditional knockdown nonsense mutation in MyoD ortholog in C. elegans, HLH-1, to ask whether MyoD plays a role in maintaining muscle proteostasis post myogenesis. …”
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    HLH-1 Modulates Muscle Proteostasis During Caenorhabditis elegans Larval Development
  7. 2487
    “…We have ascertained four NGLY1 deficiency patients who were found to carry a homozygous nonsense variant (c.1294G > T, p.Glu432*) in NGLY1. …”
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    NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems
  8. 2488
    “…Combining our data with the available literature, the types of POBINDS-causing variants included missense, nonsense, frameshift, and splicing, but the variant types do not reflect the clinical severity. …”
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    Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations
  9. 2489
    “…However, in extensive nonsense mutant screens, only one lysis gene has been identified, the endolysin gp22. …”
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    Endolysin Regulation in Phage Mu Lysis
  10. 2490
    “…CA10 overexpression was also associated with HBS nonsense mutation in HBV-related HCC tumor tissues. …”
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    CA10 is associated with HBV-related hepatocarcinogenesis
  11. 2491
    “…In this screen, we identified a zebrafish mutant with a nonsense mutation in mob4. In Drosophila, mob4 has been reported to play a role in spindle focusing as well as neurite branching and in planarians mob4 was implemented in body size regulation. …”
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    Mob4-dependent STRIPAK involves the chaperonin TRiC to coordinate myofibril and microtubule network growth
  12. 2492
    “…This study found that the nonsense mutated GS3 gene, the gs3 allele of Akita 63, has a superior yield production with enlarged grain size. …”
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    The gs3 allele from a large‐grain rice cultivar, Akita 63, increases yield and improves nitrogen‐use efficiency
  13. 2493
    “…The extended discrepancies that we observed for LRR‐CR gene models led us to perform an in‐depth manual curation of their annotations while paying special attention to nonsense mutations. We then transferred this manually curated annotation to Kitaake, a cultivar that is closely related to Nipponbare, using an optimized strategy. …”
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    A new comprehensive annotation of leucine‐rich repeat‐containing receptors in rice
  14. 2494
    “…Accumulated mRNAs with introns in the nucleus could escape transcript degradation by NMD (nonsense-mediated mRNA decay). From non-fully spliced mRNAs in ncb-1 nuclei, whose levels increase during hypoxia, introns are removed during reoxygenation. …”
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    Function of Cajal Bodies in Nuclear RNA Retention in A. thaliana Leaves Subjected to Hypoxia
  15. 2495
    “…Viral infections impose extraordinary RNA stress, triggering cellular RNA surveillance pathways such as RNA decapping, nonsense-mediated decay, and RNA silencing. Viruses need to maneuver among these pathways to establish infection and succeed in producing high amounts of viral proteins. …”
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    Arabidopsis RNA processing body components LSM1 and DCP5 aid in the evasion of translational repression during Cauliflower mosaic virus infection
  16. 2496
    “…Targeted gene panel sequencing was performed to investigate the genetic cause of rickets, and a homozygous nonsense variant in ENPP1, c.783C>G (p.Tyr261*), was identified. …”
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    Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
  17. 2497
    “…Results: Two novel homozygous frameshift variants (c.258_259del and c.1072_1073del) and one novel homozygous nonsense variant (c.814C > T) in the MEIOB gene were identified in three consanguineous Han Chinese families. …”
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    Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia
  18. 2498
    “…The infant who was reported with a multisystem phenotype and fatal type 1 CDG had compound heterozygosity for a nonsense and a splice site variant in DHDDS, resulting in DHDDS-CDG. …”
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    Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
  19. 2499
    “…RESULTS: FLNA mutations were identified in 9 patients (7 females and 2 males), including two nonsense, two splice site, three frameshift, and two missense mutations. …”
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    The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
  20. 2500
    “…Whole exome sequencing revealed a nonsense mutation (R306X), resulting in a truncated, nonfunctional MECP2 protein. …”
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    R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report
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