4,315 results found
    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. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Chromosomes and Gene Expression

    Histone H3G34R mutation causes replication stress, homologous recombination defects and genomic instability in S. pombe

    Rajesh K Yadav et al.
    Mutation of Glycine 34 to Arginine within the N-terminal tail of histone H3 alters post-translational modifications on Lysine 36 and is associated with a delay in replication restart, defective homologous recombination and an increase in genomic instability.
    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. Genetics and Genomics

    Spontaneous mutations and the origin and maintenance of quantitative genetic variation

    Wen Huang et al.
    Whole genome DNA sequence analysis, genome wide gene expression and complex organismal phenotypes in Drosophila mutation accumulation lines provide a robust estimate of the spontaneous mutation rate and mutational effects.
    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. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Myosin with hypertrophic cardiac mutation R712L has a decreased working stroke which is rescued by omecamtiv mecarbil

    Aaron Snoberger et al.
    Mechanochemical defects of a β-cardiac myosin mutation that results in severe hypertrophic cardiomyopathy are reported and the heart failure drug omecamtiv mecarbil rescues these defects.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    The Spike D614G mutation increases SARS-CoV-2 infection of multiple human cell types

    Zharko Daniloski et al.
    A pervasive mutation in the Spike protein of the coronavirus that causes COVID-19 results in virions that are up to eightfold more infectious.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    A novel twelve class fluctuation test reveals higher than expected mutation rates for influenza A viruses

    Matthew D Pauly et al.
    A new assay for specific mutational classes provides preciseestimates of the mutation rates and mutational bias for influenza A viruses.
    1. Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.

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