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  1. 861
    “…METHODS: To examine the mutagenic potential of verbenalin, a bacterial reverse mutation test (Ames test) was conducted with Salmonella typhimurium and Escherichia coli strains. …”
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    Bacterial Reverse Mutation Test of Verbenalin
  2. 862
    por Bissette, Andrew J.
    Publicado 2021
    “…Molecular replication could offer insight into the fundamentals of evolution, but achieving controlled mutation is difficult. Now, a synthetic replicator that allows for simple control over its mutation rate has been reported.…”
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    Controlled mutation rates in synthetic replicators
  3. 863
    “…Still, ARMS-HRMA allowed for scoring more mutations in comparison to SS and 1 more mutation in comparison to ddPCR (plasma sample P7). …”
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    Combining the amplification refractory mutation system and high-resolution melting analysis for KRAS mutation detection in clinical samples
  4. 864
    “…These genetic changes (aka mutations) occur over time and can lead to the emergence of new variants that may have different characteristics. …”
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    IDENTIFYING THE NEXT MUTATION OF CONCERN – EXPLOITING GENOMICS FOR TRACKING SARS-COV-2 MUTATIONS AND THEIR BIOLOGICAL IMPACT IN CANADA
  5. 865
    por Livnat, Adi, Melamed, Daniel
    Publicado 2023
    “…We exemplify this hypothesis using multiple types of mutation, including gene fusion mutations, gene duplication mutations, A[Formula: see text] G mutations in RNA-edited sites and transcription-associated mutations, and place it in the broader context of a system-level view of mutation origination called interaction-based evolution. …”
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    Evolutionary honing in and mutational replacement: how long-term directed mutational responses to specific environmental pressures are possible
  6. 866
    “…Numerous pathogenic CALR exon 9 mutations have been identified in myeloproliferative neoplasms (MPN), with type 1 (52bp deletion; CALR(DEL)) and type 2 (5bp insertion; CALR(INS)) being the most prevalent. …”
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    Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN
  7. 867
    “…The established, traditional paradigm of loss-of-function mutations leading to immunodeficiency and gain-of-function mutation leading to autoimmunity breaks down and a more differentiated picture of disease patterns evolve. …”
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    JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
  8. 868
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    PB1894: NPM1 MUTATED ACUTE MYELOID LEUKEMIA: THE CO-MUTATION PATTERNS MAY BE ASSOCIATED WITH PROGNOSIS
  9. 869
    “…The most prevalent mutations were c.1448 T>C and RecNcil, however, three less common mutations were identified (i.e., c.1223 C>T, c.1315 A>G, and c.1214 G>C). …”
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    Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients
  10. 870
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    Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh’s Syndrome
  11. 871
    “…The identification of new contributing genes has recently improved the diagnostic workup of IE. As such mutations within the SH2B3 gene, which codes for the LNK protein and negatively regulates the JAK‐STAT pathway, have been identified in cases diagnosed as IE. …”
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    Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation
  12. 872
    “…CONCLUSION: Our study indicated that the EGFR Mutation Normogram could provide a non-invasive way to predict the risk of EGFR mutation in patients with lung adenocarcinoma in clinical practice. …”
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    Predicting EGFR Mutation in Lung Adenocarcinoma: Development and Validation of the EGFR Mutation Predictive Score (EMPS) in Bali, Indonesia
  13. 873
    “…CONCLUSION: In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.…”
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    Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
  14. 874
    “…Patients with tissue depletion of mtDNA all had at least one allele with either a missense mutation in a catalytic domain or a nonsense mutation. …”
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    Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
  15. 875
    “…Forward genetic screens in Xenopus tropicalis have identified more than 80 mutations affecting diverse developmental processes, including cardiac morphogenesis and function. …”
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    Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6
  16. 876
    “…Mitochondrial DNA (mtDNA) mutations accumulate with aging in skeletal muscle and correlate with muscle loss, although no causal relationship has been established. …”
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    Mitochondrial DNA Mutations Induce Mitochondrial Dysfunction, Apoptosis and Sarcopenia in Skeletal Muscle of Mitochondrial DNA Mutator Mice
  17. 877
    “…This study focused on single base mutations in BCP and preC region and the multi-mutation patterns observed in chronic HBV infection patients. …”
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    Prevalent HBV point mutations and mutation combinations at BCP/preC region and their association with liver disease progression
  18. 878
    “…BACKGROUND: The accumulation of deleterious mutations can drastically reduce population mean fitness. …”
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    Purging Deleterious Mutations under Self Fertilization: Paradoxical Recovery in Fitness with Increasing Mutation Rate in Caenorhabditis elegans
  19. 879
    “…OBJECTIVE: to describe a novel WDR72 mutation and report the ultrastructural enamel phenotype associated with a different WDR72 mutation. …”
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    Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth
  20. 880
    “…RESULTS: Among the 159 patients, the overall mutation rate was determined to be 37.0% by direct sequencing and 44.0% by ARMS/S. …”
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    KRAS mutations detected by the amplification refractory mutation system–Scorpion assays strongly correlate with therapeutic effect of cetuximab
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