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  1. 1481
    por Luo, Yuyuan, Schaposnik, Laura P.
    Publicado 2020
    “…This paper is dedicated to the study of the interaction between dynamical systems and percolation models, with views toward the study of viral infections whose virus mutate with time. Recall that [Formula: see text]-bootstrap percolation describes a deterministic process where vertices of a graph are infected once [Formula: see text] neighbors of it are infected. …”
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    Minimal percolating sets for mutating infectious diseases
  2. 1482
    “…While there are still various hurdles to be overcome, recent success stories have proven the potential power of mutation-directed therapies and have fueled the hope of finding therapeutics for other genetic disorders. …”
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    Mutation-Directed Therapeutics for Neurofibromatosis Type I
  3. 1483
    por Zheng, Dandan, Liu, Xiao
    Publicado 2020
    “…In this review, we describe the CI outcomes in patients with OTOF mutations. We will focus on whether biallelic OTOF mutations are ideal indications for CI in patients with auditory neuropathy. …”
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    Cochlear Implantation Outcomes in Patients With OTOF Mutations
  4. 1484
    “…Conclusions: Our findings confirmed a high frequency of KIT and NRAS mutations in SUM, as well as a low incidence of BRAF mutations. …”
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    Mutation profile of primary subungual melanomas in Caucasians
  5. 1485
    “…Despite our improved understanding of NPM1 mutations and their consequences, the underlying leukemia pathogenesis is still unclear. …”
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    Nucleophosmin 1 Mutations in Acute Myeloid Leukemia
  6. 1486
    “…As such, nonsense mutations result in a large number of human diseases. …”
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    Suppression of Nonsense Mutations by New Emerging Technologies
  7. 1487
    “…Variants rs35785620, rs143078230, rs398607, and rs1805078, associated with ADHD in the discovery or replication cohorts, correspond to missense mutations with predicted deleterious effects. Expression quantitative trait loci analysis revealed an association between rs398607 and increased GALC expression in the cerebellum.…”
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    Mutations in sphingolipid metabolism genes are associated with ADHD
  8. 1488
    “…Together with the one published plastome for Debregeasia, we analyzed plastome structure and character, identified mutation hotspots and loci under selection, and constructed phylogenies. …”
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    Characteristics and Mutational Hotspots of Plastomes in Debregeasia (Urticaceae)
  9. 1489
    “…Regarding the BRAF mutation, approximately 95% of BRAF mutations belong to the BRAF V600E mutation, which can enhance the expression of the MAPK signaling pathway and is thus related to the occurrence and development of various malignant tumors and has been successfully identified as a therapeutic target. …”
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    BRAF mutation and its inhibitors in sarcoma treatment
  10. 1490
    “…To experimentally test this “mutational effects” mechanism, we examined the fitness effects of mutations across a temperature gradient using bacterial genotypes from the early stage of a mutation accumulation experiment with Escherichia coli. …”
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    Warmer temperatures enhance beneficial mutation effects
  11. 1491
    “…RESULTS: Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases. …”
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    Mutation profiling in eight cases of vagal paragangliomas
  12. 1492
    “…To identify the relationship between the mutations and the lifestyle could be useful for prevention and treatment of bladder cancer.…”
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    Mutational Landscape and Environmental Effects in Bladder Cancer
  13. 1493
    “…Driver mutations (DM) are the genetic impetus for most cancers. …”
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    Deep phylogeny of cancer drivers and compensatory mutations
  14. 1494
    por Tan, Hua
    Publicado 2020
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    Somatic mutation in noncoding regions: The sound of silence
  15. 1495
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    CTNNB1 mutations are clonal in adamantinomatous craniopharyngioma
  16. 1496
    “…In contrast to paediatric medulloblastomas, molecular groups had no prognostic impact in our adult cohort (p = 0.877). Most frequently mutated genes were TERT (including promoter mutations, mutated in 36% cases), chromatin modifiers KMT2D (31%) and KMT2C (30%), TCF4 (31%), PTCH1 (27%) and DDX3X (24%). …”
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    Clinical and mutational profiles of adult medulloblastoma groups
  17. 1497
    “…NGS analysis revealed four different mutations in three different collagen genes in twelve individuals within the Galičnik population. …”
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    Mutations in Collagen Genes in the Context of an Isolated Population
  18. 1498
    “…Mitochondrial cytopathies can be the result of a mutation in both mitochondrial and nuclear DNA. Mitochondrial dysfunction can lead to a variety of renal manifestations. …”
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    Mitochondrial DNA mutations in renal disease: an overview
  19. 1499
    “…The prevalence of somatic mutations was 65% in all immunodeficiency patients, 75% in CVID, and 48% in controls. …”
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    Somatic mutations and T-cell clonality in patients with immunodeficiency
  20. 1500
    “…We also found a positive correlation between the level of radioactivity and the probability of G to T (and complementary C to A) mutations, a hallmark of oxidative stress. We conclude that even low doses of natural bedrock radioactivity influence the mutation rate possibly through the accumulation of oxidative damage, in particular in the mitochondrial genome.…”
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    Bedrock radioactivity influences the rate and spectrum of mutation
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