82 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. 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. Structural Biology and Molecular Biophysics
    2. Human Biology and Medicine

    Epithelial magnesium transport by TRPM6 is essential for prenatal development and adult survival

    Vladimir Chubanov et al.
    Mice deficient in the TRPM6 channel suffer from impaired prenatal development, shortened lifespan, growth deficit and disturbed energy balance due to a defect in epithelial Mg2+ uptake, thus highlighting a pivotal role of TRPM6 in organismal Mg2+ homeostasis.
    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.
    1. Neuroscience

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu et al.
    A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.
    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. Chromosomes and Gene Expression
    2. Neuroscience

    The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation

    Qin Li et al.
    PTBP2 ensures that adult protein variants are expressed only in mature neurons through regulation of alternative splicing during early neuronal development.
    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.

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