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  1. 1541
    “…Myelodysplastic syndrome (MDS) refers to a heterogeneous group of closely related clonal hematopoietic disorders, which are characterized by accumulation of somatic mutations. The acquired mutation burden is suggested to define the pathway and consequent phenotype of the pathology. …”
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    Towards Understanding the Pathogenicity of DROSHA Mutations in Oncohematology
  2. 1542
    por Pfeifer, Gerd P.
    Publicado 2020
    “…Ultraviolet (UV) irradiation causes various types of DNA damage, which leads to specific mutations and the emergence of skin cancer in humans, often decades after initial exposure. …”
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    Mechanisms of UV-induced mutations and skin cancer
  3. 1543
    “…BACKGROUND: Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different clinical presentations. …”
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    X-linked SCID with a rare mutation
  4. 1544
    “…Mutations play a fundamental role in the development of cancer, and many create targetable vulnerabilities. …”
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    Cancer gene mutation frequencies for the U.S. population
  5. 1545
    “…Results: We detected 15 OPA1 mutations in 18 patients and two LHON-mtDNA mutations in four patients, for an overall mutation detection rate of 46.8%. …”
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    Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy
  6. 1546
    “…Generally, mutations take place in the highest Chern–Simons current gradient locations and subsequent mutated sequences appear to have a smoother curvature than the initial ones, in agreement with a free energy minimization argument.…”
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    DNA Mutations via Chern–Simons Currents
  7. 1547
    “…As the most frequently mutated oncogene, Kirsten rat sarcoma viral oncogene homologue (KRAS) has attracted substantial attention. …”
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    KRAS mutation: from undruggable to druggable in cancer
  8. 1548
    “…Somatic mutations arise postzygotically, producing genetic differences between cells in an organism. …”
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    Brain Somatic Mutation in Aging and Alzheimer’s Disease
  9. 1549
    “…What are the mechanisms by which the RECQ4 disease mutations cause tissue abnormalities and drive cancer formation? …”
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    Molecular Mechanisms of the RECQ4 Pathogenic Mutations
  10. 1550
    por Song, Yuanlin, Masaki, Fujita
    Publicado 2021
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    Preparation for the challenge of heavily mutated Omicron variant
  11. 1551
    “…Hence, an analysis of hotspot mutations of the different evolving virus strains needs to be carried out. …”
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    Hotspot Mutations in SARS-CoV-2
  12. 1552
    “…KRAS is one of the most commonly mutated oncogenes in cancer, enabling tumor proliferation and maintenance. …”
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    KRAS Mutations in Squamous Cell Carcinomas of the Lung
  13. 1553
    “…Mutation rates and spectra vary between species and among populations. …”
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    Heterogeneous Mutation Rates and Spectra in Yeast Hybrids
  14. 1554
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    Editorial: Genetic Mutations Associated With Ocular Diseases
  15. 1555
    “…Mutational signatures are characteristic patterns of mutations generated by exogenous mutagens or by endogenous mutational processes. …”
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    Accuracy of mutational signature software on correlated signatures
  16. 1556
    “…RESULTS: All samples were characterized by low tumor mutation burden (< 10 mut/Mb). The most commonly mutated genes were PIK3R1 (59%) and POLE (50%). …”
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    Mutational landscape of primary and recurrent Ewing sarcoma
  17. 1557
    “…Additionally, new data suggest the role of mtDNA mutations in Brugada syndrome and ischemic stroke, which before were considered only as a result of mutations in nuclear genes. …”
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    The Role of Mitochondrial DNA Mutations in Cardiovascular Diseases
  18. 1558
    “…The cause of this syndrome can be attributed to mutations in the CYLD tumour suppressor gene. If both copies of this gene are mutated, the cell undergoes uncontrolled cell proliferation and division resulting in the formation of a tumour. …”
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    Gynaecological cylindroma in association with CYLD gene mutation
  19. 1559
    “…There is also some diversity in PIK3CA gene mutation sites.…”
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    An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly
  20. 1560
    por Cui, Yunwen, Liu, Cheng, Luo, Jian, Liang, Jie
    Publicado 2022
    “…In addition, we found that PRMT5 mutation was the most frequent in HCM samples, which may affect the pathogenesis of HCM. …”
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    Dysfunctional Network and Mutation Genes of Hypertrophic Cardiomyopathy
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