1,995 results found
    1. Cancer Biology

    Replication Study: The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate

    Megan Reed Showalter et al.
    Editors' Summary: This Replication Study has reproduced important parts of the original paper.
    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. 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. 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. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    1. Genetics and Genomics

    Loss of heterozygosity results in rapid but variable genome homogenization across yeast genetic backgrounds

    Abhishek Dutta et al.
    Loss of heterozygosity (LOH) mediated diversification of the diploid S. cerevisiae hybrid genomes during asexual propagation are vast and exceptionally varied depending on the genetic background.
    1. Structural Biology and Molecular Biophysics

    Sequence co-evolution gives 3D contacts and structures of protein complexes

    Thomas A Hopf et al.
    Interactions in protein complexes can be predicted from evolutionary information from genomic sequences.
    1. Computational and Systems Biology
    2. Cancer Biology

    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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