275 results found
    1. Human Biology and 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.
    1. Human Biology and Medicine

    Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

    Lorenzo Alamo et al.
    Mapping the locations of hypertrophic cardiomyopathy gene variants onto the three-dimensional structures of contractile proteins revealed that these disrupt protein interactions are critical for normal cardiac relaxation and efficient energy usage.
    1. Cell Biology
    2. Human Biology and Medicine

    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

    Nuno Rocha et al.
    Specific human mitofusin 2 mutations induce selective upper body obesity with suppressed leptin expression and severe adipose mitochondrial dysfunction.
    1. Biochemistry and Chemical Biology
    2. Microbiology and Infectious Disease

    A unifying mechanism for the biogenesis of membrane proteins co-operatively integrated by the Sec and Tat pathways

    Fiona J Tooke et al.
    Bioinformatics and experimental approaches identify families of membrane proteins requiring the co-ordinated action of the Sec pathway and Tat pathways for their integration and define features of the polypeptides that mediate interaction with these pathways.
    1. Cancer Biology
    2. Chromosomes and Gene Expression

    Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance

    Rachel W Anantha et al.
    Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
    1. Microbiology and Infectious Disease

    Adaptive tuning of mutation rates allows fast response to lethal stress in Escherichia coli

    Toon Swings et al.
    Population mutation rates are highly flexible and evolvable under extreme stress conditions, matching changes in selective pressure to avoid extinction of the entire population.
    1. Neuroscience

    Sloppy morphological tuning in identified neurons of the crustacean stomatogastric ganglion

    Adriane G Otopalik et al.
    Reliable neuronal physiology can arise from variable and inefficient morphologies.
    1. Cell Biology
    2. Plant Biology

    Fluorescent sensors reporting the activity of ammonium transceptors in live cells

    Roberto De Michele et al.
    A modified form of Green Fluorescent Protein integrated into an ammonium transporter provides a sensor that can be used to monitor transport activity in vivo.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Synthetic single domain antibodies for the conformational trapping of membrane proteins

    Iwan Zimmermann et al.
    Synthetic single domain antibody libraries and a binder selection cascade encompassing ribosome and phage display enable the selection of conformation-specific binders against previously intractable membrane proteins within three weeks.
    1. Epidemiology and Global Health

    Conjunction of factors triggering waves of seasonal influenza

    Ishanu Chattopadhyay et al.
    Three complementary computational approaches reveal a set of putative causes of initiation of pan-USA waves of influenza.

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