2,370 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. Structural Biology and Molecular Biophysics
    2. Human Biology and Medicine

    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. 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. 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. 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

    The SERM/SERD bazedoxifene disrupts ESR1 helix 12 to overcome acquired hormone resistance in breast cancer cells

    Sean W Fanning et al.
    Bazedoxifene's SERD activities enable it to resist the impact of activating ESR1 mutations in breast cancer.
    1. Cell Biology
    2. Developmental Biology

    Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes in Drosophila

    Takuya Akiyama et al.
    Clonal heterozygosity for recessive disease alleles can elicit unexpected phenotypes in vivo, suggesting a new genetic concept relevant to understanding pathogenesis (deleterious heteromosaicism).
    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. Computational and Systems Biology
    2. Human Biology and Medicine

    Mitochondrial DNA copy number variation across human cancers

    Ed Reznik et al.
    Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.

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