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  1. 2521
    “…The ability to identify single-nucleotide mutations is critical for probing cell biology and for precise detection of disease. …”
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    Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators
  2. 2522
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    Correction: Enhanced tumorigenicity by mitochondrial DNA mild mutations
  3. 2523
    por Cyranoski, David
    Publicado 2005
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    Flu in wild birds sparks fears of mutating virus
  4. 2524
    “…Data on the KIT mutation rate in melanoma in the central European region is missing. …”
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    KIT Mutation Incidence and Pattern of Melanoma in Central Europe
  5. 2525
    “…Every cancer carries genomic mutations. Although almost all these mutations arise after fertilization, a minimal count of cancer predisposition mutations are already present at the time of genesis of germ cells. …”
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    Molecular Trajectory of BRCA1 and BRCA2 Mutations
  6. 2526
    “…Here, we found two novel mutations in pmrA (I13M) and pmrB (Q270P) that caused colistin resistance. …”
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    New Mutations Involved in Colistin Resistance in Acinetobacter baumannii
  7. 2527
    “…RNA viruses have an extremely high mutation rate, and we argue that the most plausible explanation for this is a trade-off with replication speed. …”
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    Pacing a small cage: mutation and RNA viruses
  8. 2528
    “…In this review we summarize the most relevant mutations affecting tumor suppressor genes that contribute to the onset and progression of AML pathology. …”
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    Landscape of Tumor Suppressor Mutations in Acute Myeloid Leukemia
  9. 2529
    por Waxman, David, Overall, Andrew D. J.
    Publicado 2020
    “…The results presented in this work should prove useful to a number of areas including analysis of lethal/near lethal mutations in Mendelian disorders and, in particular, for exploring how mutation-selection-drift balance explains the current spectrum of mutation frequencies in humans. …”
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    Influence of Dominance and Drift on Lethal Mutations in Human Populations
  10. 2530
    “…Tumor-specific mutations can generate neoantigens that drive CD8 T cell responses against cancer. …”
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    Mutation position is an important determinant for predicting cancer neoantigens
  11. 2531
    “…CONCLUSIONS: Our study presents an exome-sequenced cohort and identifies five novel genes potentially associated with KFS, extending the spectrum of known mutations contributing to this syndrome. Furthermore, the genetic burden analysis provides further evidence for potential oligogenic inheritance of KFS.…”
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    The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
  12. 2532
    “…BACKGROUND: In our previous work, we provided strong evidence that nucleophosmin (NPM) gene mutation has an important role in leukemogenesis of primary acute myeloid leukemia (AML). …”
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    Quantitative Assay of Mutated Nucleophosmin in Acute Myeloid Leukemia
  13. 2533
    “…The environmental carcinogen urethane exhibits a profound specificity for pulmonary tumors driven by an oncogenic Q(61)L/R mutation in the gene Kras. Similarly, the frequency, isoform, position, and substitution of oncogenic RAS mutations are often unique to human cancers. …”
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    Capturing the primordial Kras mutation initiating urethane carcinogenesis
  14. 2534
    “…PURPOSE: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. …”
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    CRB1 related retinal degeneration with novel mutation
  15. 2535
    “…OBJECTIVE: We present here a case report of a patient with a family history of intracerebral hemorrhages (ICHs) who presented with multiple large lobar hemorrhages in rapid succession, with cognitive sparing, who was found to have a mutation in the β-amyloid coding sequence of amyloid precursor protein (Leu705Val), termed the Piedmont-type mutation, the second ever reported case of this form of hereditary cerebral amyloid angiopathy (CAA). …”
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    Hereditary cerebral amyloid angiopathy, Piedmont-type mutation
  16. 2536
    por Biebricher, Christof K.
    Publicado 1999
    “…In Darwinian evolution, selection is complemented by mutation. Mutation can be studied quantitatively if selection is excluded by restricting amplification to a single replication round. …”
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    Mutation, Competition and Selection as Measured with Small RNA Molecules
  17. 2537
    “…Filtering revealed 551 nonsynonymous variants among 525 mutated genes−25 recurrent mutations and 1 recurrent variant. …”
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    New Insights Into the Complex Mutational Landscape of Sézary Syndrome
  18. 2538
    “…Subsequently, bidirectional Sanger sequencing identified two novel mutations—a single base deletion resulting in a frameshift (c.3196delC; p.His1066IlefsTer10) mutation and a single base substitution resulting in a nonsense (c.4270C>T; p.Arg1424Ter) mutation—and a known missense (c.4127T>C, p.Leu1376Pro) mutation in FYCO1. …”
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    Mutations in FYCO1 identified in families with congenital cataracts
  19. 2539
    “…Cells possess an armamentarium of DNA repair pathways to counter DNA damage and prevent mutation. Here we use C. elegans whole genome sequencing to systematically quantify the contributions of these factors to mutational signatures. …”
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    Mutational signatures are jointly shaped by DNA damage and repair
  20. 2540
    “…RESULTS: One patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. …”
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    The true panel of cystic fibrosis mutations in the Sicilian population
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