5,476 results found
    1. Genetics and Genomics

    Rare variants contribute disproportionately to quantitative trait variation in yeast

    Joshua S Bloom et al.
    Rare, evolutionarily recent variants have larger effect sizes and are more likely to decrease fitness, providing evidence that quantitative traits in yeast have evolved under purifying selection.
    1. Genetics and Genomics

    Germline burden of rare damaging variants negatively affects human healthspan and lifespan

    Anastasia V Shindyapina et al.
    Rare highly damaging mutations that are present in most human genomes decrease lifespan and are associated with an earlier onset of chronic diseases.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Microbiology and Infectious Disease

    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

    Jingwei Zeng et al.
    Studying the impact of natural variation on a key immune gene highlights how focusing on a single wild-type sequence overlooks that rare variants cause the most disease.
    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. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Nuclear genetic regulation of the human mitochondrial transcriptome

    Aminah T Ali et al.
    Common nuclear genetic variants are associated with fundamental biological processes occurring in human mitochondria and potentially point to novel roles for nuclear genes in transcriptional regulation of the mitochondrial genome.
    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. Genetics and Genomics

    Mutations primarily alter the inclusion of alternatively spliced exons

    Pablo Baeza-Centurion et al.
    Deep mutagenesis reveals that mutations rarely alter the inclusion of highly-included exons.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    A paucigranulocytic asthma host environment promotes the emergence of virulent influenza viral variants

    Katina D Hulme et al.
    Patients with paucigranulocytic asthma may be more susceptible to severe influenza and could potentially be source of new, more virulent, influenza virus variants.

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