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  1. 1121
    “…In order to address this, we investigated the association of lifespan with eight phenotypic traits, that is, litter size, body mass, female and male sexual maturity, somatic mutation, heart, respiratory, and metabolic rate. In support of the somatic mutation theory, we analysed 15 mammalian species and their whole‐genome sequencing deriving somatic mutation rate, which displayed the strongest negative correlation with lifespan. …”
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    The impact of the cardiovascular component and somatic mutations on ageing
  2. 1122
    “…However, in silico knock-out of these sequences does not qualitatively impair classification, implying that accessibility is mutationally robust. Subsequently, we show that accessibility is predicted to be robust to large-scale random mutation even in the absence of selection. …”
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    The evolution and mutational robustness of chromatin accessibility in Drosophila
  3. 1123
    “…By examining the topography and mutational signatures derived from all variant classes, we identified co-occurring mutational footprints, which we termed mutational scenarios. …”
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    Mutational topography reflects clinical neuroblastoma heterogeneity
  4. 1124
    por Schleussner, Nikolai, Cauchy, Pierre, Franke, Vedran, Giefing, Maciej, Fornes, Oriol, Vankadari, Naveen, Assi, Salam A., Costanza, Mariantonia, Weniger, Marc A., Akalin, Altuna, Anagnostopoulos, Ioannis, Bukur, Thomas, Casarotto, Marco G., Damm, Frederik, Daumke, Oliver, Edginton-White, Benjamin, Gebhardt, J. Christof M., Grau, Michael, Grunwald, Stephan, Hansmann, Martin-Leo, Hartmann, Sylvia, Huber, Lionel, Kärgel, Eva, Lusatis, Simone, Noerenberg, Daniel, Obier, Nadine, Pannicke, Ulrich, Fischer, Anja, Reisser, Anja, Rosenwald, Andreas, Schwarz, Klaus, Sundararaj, Srinivasan, Weilemann, Andre, Winkler, Wiebke, Xu, Wendan, Lenz, Georg, Rajewsky, Klaus, Wasserman, Wyeth W., Cockerill, Peter N., Scheidereit, Claus, Siebert, Reiner, Küppers, Ralf, Grosschedl, Rudolf, Janz, Martin, Bonifer, Constanze, Mathas, Stephan
    Publicado 2023
    “…Disease-causing mutations in genes encoding transcription factors (TFs) can affect TF interactions with their cognate DNA-binding motifs. …”
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    Transcriptional reprogramming by mutated IRF4 in lymphoma
  5. 1125
    por Tian, Zhe-Xian, Wang, Yi-Ping
    Publicado 2023
    “…Pseudomonas aeruginosa easily produces drug-resistant mutants. A large number of mutational resistome genes exist in the genome of P. aeruginosa. …”
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    Identification of cpxS mutational resistome in Pseudomonas aeruginosa
  6. 1126
    “…Mutation accumulation in tumour evolution is one major cause of intra-tumour heterogeneity (ITH), which often leads to drug resistance during treatment. …”
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    Mutation divergence over space in tumour expansion
  7. 1127
    “…In the past decade, deep mutational scanning methods have evolved to support the functional analysis of nearly all possible single-amino acid changes in a protein of interest. …”
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    Deep mutational scanning of proteins in mammalian cells
  8. 1128
    “…We analyzed 6,465 independent lacZ mutations that resulted in 2,732 missense mutations that impaired β-gal function. …”
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    The functional mutational landscape of the lacZ gene
  9. 1129
    “…In vitro study on one of the "hot-spot" mutants has demonstrated it as an activating mutation. METHODS: Based on these data, we initiated PIK3CA mutation screening in 94 human gastric cancers by direct sequencing of the gene regions in which 80% of all the known PIK3CA mutations were found. …”
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    Mutations of PIK3CA in gastric adenocarcinoma
  10. 1130
    “…We show in vitro that LexA cleavage is induced during RecBC-mediated repair of ciprofloxacin-mediated DNA damage and that this results in the derepression of the SOS-regulated polymerases Pol II, Pol IV and Pol V, which collaborate to induce resistance-conferring mutations. Our findings indicate that the inhibition of mutation could serve as a novel therapeutic strategy to combat the evolution of antibiotic resistance.…”
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    Inhibition of Mutation and Combating the Evolution of Antibiotic Resistance
  11. 1131
    “…PAX6 mutations are archived in the Human PAX6 Allelic Variant Database, which currently contains 309 records, 286 of which are mutations in patients with eye malformations. …”
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    PAX6 mutations: genotype-phenotype correlations
  12. 1132
    “…Somatic mutations have a role in the pathogenesis of a number of diseases, particularly cancers. …”
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    Somatic mutations in the mitochondria of rheumatoid arthritis synoviocytes
  13. 1133
    “…Cancers requiring more mutations will tend to appear later in life. This type of approach may be confounded by biologic heterogeneity because different cancer subtypes may require different numbers of mutations. …”
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    Numbers of mutations to different types of colorectal cancer
  14. 1134
    por Zahed, Laila
    Publicado 2001
    “…However, no specific mutation is confined to the Arabs, although some Arab countries do have unique mutations.…”
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    The spectrum of β-thalassemia mutations in the Arab populations
  15. 1135
    por Tomlinson, Ian PM
    Publicado 2001
    “…The accumulation of mutations is a feature of all normal cells. The probability of any individual gene in any cell acquiring a mutation is, however, low. …”
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    Mutations in normal breast tissue and breast tumours
  16. 1136
    por Robinson, Richard
    Publicado 2006
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    Mutations Change the Boolean Logic of Gene Regulation
  17. 1137
    por Hemminki, K
    Publicado 1997
    “…Notably, dietary exposures have been largely neglected. Biomonitoring of mutations is a relatively new field and a few exposures have so far been investigated. …”
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    DNA adducts and mutations in occupational and environmental biomonitoring.
  18. 1138
    “…METHODS: Sixty-nine human neuroblastomas (42 primary tumors and 27 cell lines) were sequenced for PIK3CA activating mutations within the C2, helical and kinase domain "hot spots" where 80% of mutations cluster. …”
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    Mutations in PIK3CA are infrequent in neuroblastoma
  19. 1139
    “…Molecular studies have found RET/PTC translocations in some examples, supporting HTN as a PTC; however mutations in BRAF (another marker for PTC) have not been found. …”
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    Lack of BRAF mutations in hyalinizing trabecular neoplasm
  20. 1140
    por Chalfin, Donald B
    Publicado 2006
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    Falling towers, crumbling levees, and viral mutations
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