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  1. 2441
    “…Recently, it has been reported that, besides genomic rearrangements, hybridization can also alter the somatic mutation rates in plants. In this review, we provide in-depth insights about hybridization triggered genomic rearrangements and somatic mutations in plants.…”
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    Effect of Hybridization on Somatic Mutations and Genomic Rearrangements in Plants
  2. 2442
    por Spina, Valeria, Rossi, Davide
    Publicado 2019
    “…Whole‐genome sequencing and whole‐exome sequencing studies identified recurrently mutated genes in CLL and profiled its clonal evolution patterns. …”
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    Overview of non‐coding mutations in chronic lymphocytic leukemia
  3. 2443
    “…Numerous non-inherited somatic mutations, distinct from those of germ-line origin, occur in somatic cells during DNA replication per cell-division. …”
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    DSMNC: a database of somatic mutations in normal cells
  4. 2444
    “…Several PLN mutations have been identified, with the R14del mutation being the most prevalent cardiomyopathy-related mutation in the Netherlands. …”
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    Prevalence and cardiac phenotype of patients with a phospholamban mutation
  5. 2445
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    Mutations in RELT cause autosomal recessive amelogenesis imperfecta
  6. 2446
    “…We conclude that the virus mutation dynamics could play an important role in the transmission of CHIKV, and there is a crucial need to better understand the mutation mechanism.…”
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    Modelling and Analyzing Virus Mutation Dynamics of Chikungunya Outbreaks
  7. 2447
    “…Cystic fibrosis (CF) is a lethal autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. …”
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    Efficient Gene Editing at Major CFTR Mutation Loci
  8. 2448
    “…However, the G724W mutation did not demonstrate the same effects. Our results indicate that EPAS1 mutations might have a potential causative effect on the development of Tibetan non-syndromic CHD.…”
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    Mutations in EPAS1 in congenital heart disease in Tibetans
  9. 2449
    “…We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.…”
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    Search for Novel Mutational Targets in Human Endocrine Diseases
  10. 2450
    “…Rare individuals with inactivating mutations in the Huntington’s disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. …”
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    Hypomorphic mutation of the mouse Huntington’s disease gene orthologue
  11. 2451
    “…BACKGROUND: Mutator-like elements (MULEs) are a significant superfamily of DNA transposons on account of their: (i) great transpositional activity and propensity for insertion in or near gene sequences, (ii) their consequent high mutagenic capacity, and, (iii) their tendency to acquire host gene fragments. …”
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    Evolution of Mutator transposable elements across eukaryotic diversity
  12. 2452
    “…In this review, we summarize the recurrent “hotspot” mutations in these enzymes in various tumors and their role in tumorigenesis. …”
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    Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors
  13. 2453
    “…Given the disposability of somatic tissue, selection can favor a higher mutation rate in the early segregating soma than in germline, as seen in some animals. …”
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    The architecture of intra-organism mutation rate variation in plants
  14. 2454
    por Napolitano, Andrea, Vincenzi, Bruno
    Publicado 2019
    “…Tyrosine kinase inhibitors are the cornerstone of this improvement, but resistance occurs through secondary KIT mutations. Studies aimed at improving our understanding of the molecular basis of sensitivity and resistance will soon allow us to further tailor our therapeutic strategies.…”
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    Secondary KIT mutations: the GIST of drug resistance and sensitivity
  15. 2455
    “…Transposable element (TE) insertions are responsible for a significant fraction of spontaneous germ line mutations reported in inbred mouse strains. This major contribution of TEs to the mutational landscape in mouse contrasts with the situation in human, where their relative contribution as germ line insertional mutagens is much lower. …”
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    Mouse germ line mutations due to retrotransposon insertions
  16. 2456
    por Patel, Minal B., Wang, Jun
    Publicado 2018
    “…Due to the sheer number of noncoding mutations (NCMs) and the limited knowledge of regulatory element functionality in cancer genomes, differentiating pathogenic mutations from background passenger noise is particularly challenging technically and computationally. …”
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    The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer
  17. 2457
    “…While crizotinib, an anaplastic lymphoma kinase (ALK) inhibitor, is only approved for non-small-cell lung cancer with ALK mutation, it is reportedly effective for other malignant tumors with ALK mutation. …”
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    Effectiveness of Crizotinib for Inflammatory Myofibroblastic Tumor with ALK mutation
  18. 2458
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    Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection
  19. 2459
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    Pigment Nephropathy in a Patient With PYGM Gene Mutation
  20. 2460
    “…KRAS mutations and TP53 mutations were only presented in borderline or malignant tumors. …”
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    Mutation profiles of follicular thyroid tumors by targeted sequencing
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