2,934 results found
    1. Genetics and Genomics
    2. Cancer Biology

    Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

    Young Seok Ju et al.
    Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
    1. Cancer Biology
    2. Computational and Systems Biology

    5-hydroxymethylcytosine marks regions with reduced mutation frequency in human DNA

    Marketa Tomkova et al.
    Different types of epigenetic DNA modifications affect the likelihood of cytosine mutations in cancer.
    1. Genetics and Genomics
    2. Neuroscience

    Propensity for somatic expansion increases over the course of life in Huntington disease

    Radhia Kacher et al.
    Somatic instability of the CAG repeat increases progressively with age and disease progression in Huntington disease mutation carriers, starting with low levels in fetal brain tissues.
    1. Cancer Biology
    2. Computational and Systems Biology

    Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

    Malene Juul et al.
    A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.
    1. Structural Biology and Molecular Biophysics

    Estrogen receptor alpha somatic mutations Y537S and D538G confer breast cancer endocrine resistance by stabilizing the activating function-2 binding conformation

    Sean W Fanning et al.
    Two common mutant versions of estrogen receptor alpha achieve constitutive activity and hormone-resistance by preferentially adopting a suite of conformations that expose the coregulator-binding surface.
    1. Neuroscience

    Resolving rates of mutation in the brain using single-neuron genomics

    Gilad D Evrony et al.
    The reanalysis of data from a recent study that claimed retrotransposon mutations are ubiquitous in the human brain outlines a general framework for the design and analysis of single-cell genomics studies.
    1. Cancer Biology
    2. Genetics and Genomics

    Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma

    Jianing Xu et al.
    A distinct class of kidney tumors is characterized not by patterns of somatic mutations, but by a distinct metabolism.
    1. Cancer Biology
    2. Computational and Systems Biology

    Somatic mutations in early metazoan genes disrupt regulatory links between unicellular and multicellular genes in cancer

    Anna S Trigos et al.
    Cancer is a consequence of the release of basal cellular functions inherited from our unicellular ancestors from the control of regulatory networks that evolved during the emergence of multicellularity.
    1. Genetics and Genomics

    Whole-genome sequencing analysis of semi-supercentenarians

    Paolo Garagnani et al.
    Genetic variants located in DNA repair genes and a reduced burden of somatic mutations protect the oldest living persons from age-related diseases, allowing an healthy aging phenotype.

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