5,683 results found
    1. Developmental Biology

    NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    Romaric Bouveret et al.
    Some NKX2-5 mutations that cause congenital heart disease retain transcriptional activity and can bind to many off-target genes, in part through their interactions with cofactors.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A broad mutational target explains a fast rate of phenotypic evolution

    Fabrice Besnard et al.
    A broad mutational target is the cause of the high mutational variance and corresponding fast phenotypic evolutionary rate in P3.p cell fate in Caenorhabditis nematodes.
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Evolutionary Biology

    Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate

    Chungang Feng et al.
    The Atlantic herring has the lowest mutation rate yet estimated in a vertebrate species and this partially explains its moderate nucleotide diversity given the large population size.
    1. Structural Biology and Molecular Biophysics
    2. Evolutionary Biology

    An atomic-resolution view of neofunctionalization in the evolution of apicomplexan lactate dehydrogenases

    Jeffrey I Boucher et al.
    The convergent evolution of unusually strict substrate specificity in apicomplexan LDHs arose by classic neofunctionalization of a duplicated MDH gene via few mutations of large effect.
    1. Structural Biology and Molecular Biophysics

    Differential impact of BTK active site inhibitors on the conformational state of full-length BTK

    Raji E Joseph et al.
    The first-in-class kinase inhibitor, Ibrutinib, destabilizes its autoinhibited Bruton’s tyrosine kinase (BTK) target, and a remote resistance mutation causes global structural changes that activate BTK catalytic activity.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Predicting mutational routes to new adaptive phenotypes

    Peter A Lind et al.
    A combination of genetics, experimental evolution and mathematical modelling defines information necessary to predict the outcome of short-term adaptive evolution.
    1. Epidemiology and Global Health

    FnCas9-based CRISPR diagnostic for rapid and accurate detection of major SARS-CoV-2 variants on a paper strip

    Manoj Kumar et al.
    A newly developed lateral flow assay can diagnose mutational signatures of major SARS CoV-2 variants in a rapid, inexpensive, and sequence-free manner.
    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. Cell Biology
    2. Developmental Biology

    Activation of PTHrP-cAMP-CREB1 signaling following p53 loss is essential for osteosarcoma initiation and maintenance

    Mannu K Walia et al.
    The loss of p53 in bone cells activates critical signaling pathways; these are also essential in bone cancer.

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