1,792 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    Bedrock radioactivity influences the rate and spectrum of mutation

    Nathanaëlle Saclier et al.
    Subterranean isopods endemic to regions with large igneous rock formations have a higher mutation rate and display an excess of mutations that are typical of an oxidative stress.
    1. Evolutionary Biology

    Rapid evolution of the human mutation spectrum

    Kelley Harris, Jonathan K Pritchard
    Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Cell Biology
    2. Genetics and Genomics

    A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

    Dana M Talsness et al.
    An ion transporter is hyperglycosylated and 50% less functional in NGLY1-deficient cells, potentially explaining several symptoms of NGLY1 deficiency such as lack of sweat and tears.
    1. Genetics and Genomics

    Quiescence unveils a novel mutational force in fission yeast

    Serge Gangloff et al.
    The quiescence-driven mutational landscape reveals replication-independent mutagenesis as a novel evolutionary force.
    1. Cell Biology
    2. Neuroscience

    Genetic defects in β-spectrin and tau sensitize C. elegans axons to movement-induced damage via torque-tension coupling

    Michael Krieg et al.
    A conceptual framework and physical model shows how actin-spectrin networks and microtubule bundles can protect axons from mechanical stress.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Universally high transcript error rates in bacteria

    Weiyi Li, Michael Lynch
    Fundamental details of the rate and molecular spectrum of transcript errors were revealed in four bacterial species, providing novel insights into transcriptional fidelity and RNA quality-control in prokaryotes.
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

    Georgia Panagiotakos et al.
    The Timothy syndrome mutation in Cav1.2 gives rise to defects in neuronal differentiation by preventing a developmental switch in channel splicing and elevating calcium signaling in differentiating cells.
    1. Biochemistry and Chemical Biology
    2. Cancer Biology

    Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells

    Jaigeeth Deveryshetty et al.
    Biochemical studies revealed novel property of human tumor suppressor PALB2, which significantly contribute into DNA repair in cells and can be targeted for the development of novel anticancer treatment.
    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.

Refine your results by:

Type
Research categories