377 results found
    1. Neuroscience

    Altered topology of neural circuits in congenital prosopagnosia

    Gideon Rosenthal et al.
    An innovative inter-subject stimulus-locked brain activation approach uncovers marked topological differences in a brain network of higher-order visual regions in individuals with a congenital impairment in face recognition compared with controls.
    1. Medicine
    2. Neuroscience

    The mechanism underlying transient weakness in myotonia congenita

    Jessica H Myers et al.
    Transient weakness in myotonia congenita is caused by depolarization secondary to activation of persistent Na+ current in skeletal muscle.
    1. Developmental Biology

    NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    Romaric Bouveret et al.
    Some NKX2-5 mutations that cause congenital heart disease retain transcriptional activity and can bind to many off-target genes, in part through their interactions with cofactors.
    1. Developmental Biology

    Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

    Eva Lana-Elola et al.
    A panel of seven new mouse strains with chromosomal duplications is used to identify a minimal genetic region required in three copies to cause congenital heart defects typical of human Down syndrome.
    1. Developmental Biology

    High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila

    Jun-yi Zhu et al.
    A high-throughput functional validation system for large numbers of candidate disease genes enables in vivo functional testing of specific gene variants.
    1. Neuroscience

    Altered functional connectivity during speech perception in congenital amusia

    Kyle Jasmin et al.
    Individuals with amusia, who have unreliable pitch processing, show decreased functional connectivity between right auditory and left language-related cortex during speech perception, demonstrating a neural basis for compensatory dimensional weighting.
    1. Developmental Biology

    SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients

    Fei Liang et al.
    Combined evidence of human genetics, in vitro cardiomyocyte differentiation, and mouse model indicates that SORBS2 is a regulator of second heart field development and its deficiency causes seemingly opposite atrial septal defects.
    1. Neuroscience

    A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome

    Guanglin Xing et al.
    Asparagine 88 to lysine (N88K), a prevalent congenital myasthenic syndrome mutation of Rapsyn, impairs the neuromuscular junction by disrupting agrin signaling.
    1. Developmental Biology

    Multiscale cardiac imaging spanning the whole heart and its internal cellular architecture in a small animal model

    Graham Rykiel et al.
    Correlative imaging of the heart at multiple spatial scales has the potential to revolutionize the way we understand deficiencies in congenital heart disease.
    1. Developmental Biology

    Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice

    Rita Carmona et al.
    Expression of the transcription factor Wt1 is required in a lateral mesoderm domain to develop the mesenchymal population required for the closure of the pleural cavities and the formation of the diaphragm.

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