19 results found
    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. Cell Biology
    2. Developmental Biology

    Shear stimulation of FOXC1 and FOXC2 differentially regulates cytoskeletal activity during lymphatic valve maturation

    Pieter R Norden et al.
    Genetic and molecular analyses show that FOXC1 and FOXC2 play a role in controlling lymphatic valve maintenance as key mediators of mechanotransduction to control cytoskeletal organization and RhoA/ROCK signaling.
    1. Developmental Biology

    Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate

    Dasan Mary Cibi et al.
    The identification of the splicing code and all the required components of alternative splicing will be crucial for a comprehensive understanding of this process in the neural crest cell biology.
    1. Developmental Biology

    A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice

    Lorriane Eley et al.
    Identification of a novel source of progenitor cells that form arterial valve leaflets and that, when disrupted, can lead to bicuspid arterial valve, the most common human cardiac malformation.
    1. Cell Biology
    2. Stem Cells and Regenerative Medicine

    PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells

    María Inés Pérez Millán et al.
    The transcription factor PROP1 controls a genetic network that drives pituitary stem cells to undergo an epithelial-to-mesenchymal-like transition and differentiate.
    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.
    1. Developmental Biology

    T-box3 is a ciliary protein and regulates stability of the Gli3 transcription factor to control digit number

    Uchenna Emechebe et al.
    The transcription and splicing factor T-box3 is present in primary cilia, regulates multiple aspects of limb development, and interacts with members of the protein complex required for the stability and processing of the Gli3 transcription factor.
    1. Genetics and Genomics

    A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21

    Yasuhiro Kazuki et al.
    TcMAC21 is an appropriate “next gen” mouse model for DS research, and provides a proof of concept of using artificial chromosomes to generate non-mosaic humanized animal models of chromosome disorders.
    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. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.

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