186 results found
    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

    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

    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. 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

    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. Developmental Biology
    2. Stem Cells and Regenerative Medicine

    GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

    Arun Sharma et al.
    Analyses of human stem cells with distinct GATA6 mutations revealed a spectrum of molecular responses that drive isolated congenital heart disease or the co-occurrence of pancreas and diaphragm malformations.
    1. Developmental Biology

    Dullard-mediated Smad1/5/8 inhibition controls mouse cardiac neural crest cells condensation and outflow tract septation

    Jean-François Darrigrand et al.
    New views on the relevance of bone morphogenetic protein signalling fine tuning in the cardiac neural crest cells for the heart outflow tract septation and the formation of the great arteries.
    1. Developmental Biology

    Genetic Diseases: Many ways to break a heart

    Megan Rowton, Ivan P Moskowitz
    Insight
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    1. Chromosomes and Gene Expression

    Regulation of alternative polyadenylation by Nkx2-5 and Xrn2 during mouse heart development

    Keisuke Nimura et al.
    A tissue-specific transcription factor is involved in the regulation of alternative polyadenylation in conjunction with a transcription termination factor.
    1. Developmental Biology
    2. Stem Cells and Regenerative Medicine

    An integrative transcriptomic atlas of organogenesis in human embryos

    Dave T Gerrard et al.
    Integrating human embryonic transcriptomes from 15 sites during organogenesis identifies novel expression signatures linked to congenital disorders and a new programme of non-coding gene expression.

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