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  1. 1841
    “…Such mutations are significantly associated with various diseases. …”
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    The implication of mitochondrial DNA mutation and dysfunction in periodontal diseases
  2. 1842
    por Kikutake, Chie, Suyama, Mikita
    Publicado 2023
    “…Recent studies have shown that some silent mutations can be harmful to various processes. In this study, we performed a comprehensive in silico analysis to elucidate the effects of silent mutations on cancer pathogenesis using exome sequencing data derived from the Cancer Genome Atlas. …”
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    Possible involvement of silent mutations in cancer pathogenesis and evolution
  3. 1843
    “…BACKGROUND: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation. CASE REPORT: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. …”
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    Heterogeneous distribution of EGFR mutation in NSCLC: Case report
  4. 1844
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    Sirolimus as frontline therapy for PTEN-mutated histiocytic sarcoma
  5. 1845
    “…Damage of mitochondrial functions caused by mitochondrial DNA (mtDNA) pathogenic mutations had long been proposed to be involved in breast carcinogenesis. …”
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    Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer
  6. 1846
    “…Although NTRK gatekeeper mutations have been well-described as mechanisms of resistance to these agents, alternative pathway mutations are rare. …”
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    Progressive metastatic infantile fibrosarcoma with multiple acquired mutations
  7. 1847
    por Cotto, Olivier, Day, Troy
    Publicado 2023
    “…The distribution of fitness effects (DFE) of new mutations is key to our understanding of many evolutionary processes. …”
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    A null model for the distribution of fitness effects of mutations
  8. 1848
    “…Ultimately, our results suggest that mutators may hinder the utility of combination therapy when mutators are present. …”
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    Mutators can drive the evolution of multi-resistance to antibiotics
  9. 1849
    “…In contrast, parental aging signatures inferred from human de novo mutation data appear to explain much of the mutation spectrum’s phylogenetic signal when fit to non-context-dependent mutation spectrum data in combination with a novel mutational signature. …”
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    “Evolution of the mutation spectrum across a mammalian phylogeny”
  10. 1850
    “…More than 45% (18/40) had an advanced cancer stage (≥ stage III). Mutations were found in 21/40 cases (52.5%), with one case having two mutations, giving a total of twenty-two mutations in the TP53 coding DNA. …”
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    TP53 mutations in Romanian patients with colorectal cancer
  11. 1851
    “…We develop the Bayesian Mutation Sampler (BMS) which extends the original model by incorporating the use of generic prior distributions. …”
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    The Bayesian Mutation Sampler Explains Distributions of Causal Judgments
  12. 1852
    “…Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. …”
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    Mutation ∆K281 in MAPT causes Pick’s disease
  13. 1853
    “…TP53-mutated myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) form a distinct and heterogeneous group of myeloid malignancies associated with poor outcomes. …”
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    TP53-Mutated Myelodysplasia and Acute Myeloid Leukemia
  14. 1854
    “…The manifestation of HCM’s morphological, histological, and clinical symptoms is subject to the complex interplay of various determinants, including genetic mutation and environmental factors. Approximately half of MYBPC3 mutations give rise to truncated protein products, while the remaining mutations cause insertion/deletion, frameshift, or missense mutations of single amino acids. …”
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    An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
  15. 1855
    “…A variety of mutational processes drive cancer development, but their dynamics across the entire disease spectrum from pre-cancerous to advanced neoplasia are poorly understood. …”
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    Mutational signature dynamics shaping the evolution of oesophageal adenocarcinoma
  16. 1856
    por Guarnieri, Patrizia
    Publicado 1989
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    The incorruptible flesh: bodily mutation and mortification in religion and folklore
  17. 1857
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    Re-evaluating evidence for adaptive mutation rate variation
  18. 1858
    “…Previous studies focused on mutations in the RUNX2 RHD domain, with limited investigation of mutations in the C-terminal domain. …”
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    Functional consequences of C-terminal mutations in RUNX2
  19. 1859
    por Liu, Zian, Samee, Md Abul Hassan
    Publicado 2023
    “…Single nucleotide mutation rates have critical implications for human evolution and genetic diseases. …”
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    Structural underpinnings of mutation rate variations in the human genome
  20. 1860
    “…In this review, we will discuss (1) the various ways mutations in cardiac troponin C might lead to disease; (2) relevant data on mutations in cardiac troponin C linked to human disease, and (3) all currently existing mouse models containing cardiac troponin C mutations (disease-associated and engineered).…”
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    Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C
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