172 results found
    1. Developmental Biology

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

    Romaric Bouveret, Ashley J Waardenberg ... Richard P Harvey
    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, Yulong Fu ... Zhe Han
    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, Claudia S López ... Sandra Rugonyi
    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, Georg Vogler ... Rolf Bodmer
    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

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

    Fei Liang, Bo Wang ... Zhen Zhang
    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. Developmental Biology

    Glucose inhibits cardiac muscle maturation through nucleotide biosynthesis

    Haruko Nakano, Itsunari Minami ... Atsushi Nakano
    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

    Cardiac Development: Tracing the history of a heart

    Brian Spurlock, Li Qian
    Newly developed tools will help researchers understand how the human heart develops and build better models to study and treat congenital heart disease.
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    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility

    Fernanda M Bosada, Karel van Duijvenboden ... Vincent M Christoffels
    Modest changes in expression of interacting dose-dependent transcription factors Tbx5 and Prrx1, caused by disease-associated common regulatory variants, significantly impact on the cardiac gene regulatory network and disease susceptibility.
    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, Lauren K Wasson ... Pediatric Cardiac Genomics Consortium
    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. Genetics and Genomics

    Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity

    Katja Birker, Shuchao Ge ... Rolf Bodmer
    Genes of the MICOS complex are a major candidate pathway to be potentially linked to defects in cardiomyocyte growth and differentiation in Hypoplastic left heart syndrome (HLHS), and relevant for elucidating the polygenic nature of HLHS and other CHDs.

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