94 results found
    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. Developmental Biology

    Wnt11 directs nephron progenitor polarity and motile behavior ultimately determining nephron endowment

    Lori L O'Brien et al.
    Wnt11 maintains nephron progenitor niche integrity during kidney development through its modulation of cellular dynamics.
    1. Physics of Living Systems

    Downsizing the molecular spring of the giant protein titin reveals that skeletal muscle titin determines passive stiffness and drives longitudinal hypertrophy

    Ambjorn Brynnel et al.
    Genetically altering the size of the molecular spring element in the giant protein titin established that titin determines the stiffness of skeletal muscle and the number of sarcomeres in series.
    1. Human Biology and Medicine
    2. Neuroscience

    Characterization of small fiber pathology in a mouse model of Fabry disease

    Lukas Hofmann et al.
    Globotriaosylcermide directly impacts neuronal integrity and ion channel function as potential mechanism underlying small fiber pathology in Fabry disease.
    1. Developmental Biology
    2. Genetics and Genomics

    Combinatorial chromatin dynamics foster accurate cardiopharyngeal fate choices

    Claudia Racioppi et al.
    ATAC-seq, CRISPR/Cas9 mutagenesis, reporter and gene expression assays revealed dynamic chromatin accessibility profiles governing differential gene expression during heart vs. pharyngeal muscle fate choices in the powerful chordate model Ciona.
    1. Cell Biology

    The fibronectin synergy site re-enforces cell adhesion and mediates a crosstalk between integrin classes

    Maria Benito-Jardón et al.
    The fibronectin synergy site is only required in vivo when forces exceed or αvβ3 integrin levels fall below certain thresholds.
    1. Developmental Biology

    A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice

    Lorriane Eley et al.
    Identification of a novel source of progenitor cells that form arterial valve leaflets and that, when disrupted, can lead to bicuspid arterial valve, the most common human cardiac malformation.
    1. Computational and Systems Biology
    2. Human Biology and Medicine

    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.
    1. Developmental Biology

    Calcium handling precedes cardiac differentiation to initiate the first heartbeat

    Richard CV Tyser et al.
    High-resolution live imaging reveals how and when the mouse heart first starts to beat during development and how the onset of beating impacts on heart muscle cell maturation and heart formation.

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