23 results found
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    A Bayesian analysis of the association between Leukotriene A4 Hydrolase genotype and survival in tuberculous meningitis

    Laura Whitworth et al.
    In this ideal example of pharmacogenomics, individuals with a common variant in a gene encoding for an inflammatory lipid mediator benefit selectively from standard-of-care anti-inflammatory treatment used for tuberculous meningitis.
    1. Biochemistry and Chemical Biology

    Structural and functional characterization of G protein–coupled receptors with deep mutational scanning

    Eric M Jones et al.
    Linking deep mutational scanning with engineered transcriptional reporters in human cell lines establishes a generalizable method for exploring pharmacogenomics, structure, and function across broad classes of drug receptors.
    1. Chromosomes and Gene Expression

    Live-cell imaging reveals enhancer-dependent Sox2 transcription in the absence of enhancer proximity

    Jeffrey M Alexander et al.
    Sox2 transcription is not correlated with spatial proximity of its essential regulatory enhancer in embryonic stem cells, suggesting gene transcription is not limited to periods of direct enhancer-promoter contact.
    1. Cell Biology
    2. Neuroscience

    Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

    Antonietta Franco et al.
    A trial of mitofusin activation shows neuron regeneration and phenotype reversal in vitro and in vivo in experimental Charcot–Marie–Tooth disease type 2A caused by mitofusin 2 mutations.
    1. Chromosomes and Gene Expression

    Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome

    Srivarsha Rajshekar et al.
    Derepression of transcripts from hypomethylated pericentromeric repeats triggers an innate immune response in an animal model of Immunodeficency, Centromere and Facial anomalies (ICF) syndrome.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    NRF2 regulates core and stabilizing circadian clock loops, coupling redox and timekeeping in Mus musculus

    Ryan S Wible et al.
    NRF2 is the mechanism through which oxidative signals directly input into the circadian clockwork to link metabolism and timekeeping in Mus musculus.
    1. Genetics and Genomics

    Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

    Melissa A Chiasson et al.
    Human vitamin K epoxide reductase (VKOR) has a four transmembrane domain topology that supports the use of a homology model, enabling identification of active site residues and human variant impact.
    1. Computational and Systems Biology
    2. Cancer Biology

    Expression signature based on TP53 target genes doesn't predict response to TP53-MDM2 inhibitor in wild type TP53 tumors

    Dmitriy Sonkin
    A previously suggested expression signature based on thirteen TP53 transcriptional target genes does not predict the response of wild type TP53 tumors to TP53-MDM2 inhibitors.
    1. Cell Biology
    2. Computational and Systems Biology

    Functional mapping of yeast genomes by saturated transposition

    Agnès H Michel et al.
    A new method maps functional and structural features of yeast genomes with unprecedented ease and throughput, which allows identification of protein domains at the genome scale.

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