29 results found
    1. Genetics and Genomics

    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

    Qing Feng et al.
    Expression of the disease gene DUX4 inhibits RNA quality control in skeletal muscle, thereby stabilizing thousands of aberrant RNAs, including its own transcript.
    1. Chromosomes and Gene Expression

    NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

    Amy E Campbell et al.
    CRISPR/Cas9 engineered locus-specific proteomics leads to the identification of NuRD, CAF-1, and MBD3L2 as regulators of the early embryonic transcription factor DUX4.
    1. Genetics and Genomics

    Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

    Sujatha Jagannathan et al.
    The myopathic transcription factor DUX4 induces discordant dysregulation of transcript and protein levels, demonstrating a key role for post-transcriptional gene regulation in facioscapulohumeral muscular dystrophy.
    1. Cell Biology

    Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

    Louise A Moyle et al.
    Rescue of DUX4-induced muscle pathology by the RET inhibitor Sunitinib reveals the therapeutic potential for treatment of Facioscapulohumeral muscular dystrophy using tyrosine kinase inhibitors.
    1. Cell Biology

    ATR expands embryonic stem cell fate potential in response to replication stress

    Sina Atashpaz et al.
    ATR protects stem cell genomes by activating a transcriptional response mediated by totipotency genes, conferring trophoblast differentiation potential, the derepression of which in somatic cells might favour cancer features emergence.
    1. Developmental Biology

    Species-specific maturation profiles of human, chimpanzee and bonobo neural cells

    Maria C Marchetto et al.
    Using iPSCs as a model to study neurodevelopmental differences between human and nonhuman primates lays the groundwork for understanding aspects of human brain evolution and neurological disease susceptibility.
    1. Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
    1. Structural Biology and Molecular Biophysics
    2. Computational and Systems Biology

    Pi-Pi contacts are an overlooked protein feature relevant to phase separation

    Robert McCoy Vernon et al.
    Statistics on the frequencies of pi interactions in folded protein structures enable successful prediction of intrinsically disordered protein phase separation, with clear implications for a physical understanding of cellular organization.
    1. Cell Biology
    2. Stem Cells and Regenerative Medicine

    Generation of human hepatic progenitor cells with regenerative and metabolic capacities from primary hepatocytes

    Takeshi Katsuda et al.
    Human chemically induced liver progenitors (hCLiPs), which are generated from primary human hepatocytes, exhibit the potential to repopulate injured livers of host mice with efficiency > 90%.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    A map of human PRDM9 binding provides evidence for novel behaviors of PRDM9 and other zinc-finger proteins in meiosis

    Nicolas Altemose et al.
    In humans, specific sequence features can predict whether meiotic recombination occurs at sites bound by the protein PRDM9, whose DNA-binding zinc-finger domain can unexpectedly bind to gene promoters and to other copies of PRDM9.

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