211 results found
    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

    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

    Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

    Sonia Stefanovic et al.
    Discovering that Hoxb1 acts as a repressor of cardiac differentiation on second heart field progenitor cells helps us to understand the etiology of congenital heart defects such as atrioventricular septal defects.
    1. Developmental Biology

    Glucose inhibits cardiac muscle maturation through nucleotide biosynthesis

    Haruko Nakano et al.
    During cardiogenesis, the major role of glucose is not the catabolic extraction of energy but the anabolic biosynthesis of nucleotides.
    1. Genetics and Genomics
    2. Medicine

    Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

    Jeanne L Theis et al.
    Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
    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. Developmental Biology

    A predictive model of asymmetric morphogenesis from 3D reconstructions of mouse heart looping dynamics

    Jean-François Le Garrec et al.
    A precise sequence of left-right asymmetries, combined with mechanical constraints, is sufficient to drive the looped morphogenesis of the embryonic heart tube, with potential impact for congenital heart defects.
    1. Developmental Biology

    Early patterning and specification of cardiac progenitors in gastrulating mesoderm

    W Patrick Devine et al.
    Multipotent cardiac precursors within a population of mesoderm are rapidly fated to specific anatomic locations in the developing mouse heart.
    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.

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