28 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. Computational and Systems Biology
    2. Microbiology and Infectious Disease

    HSV-1 single-cell analysis reveals the activation of anti-viral and developmental programs in distinct sub-populations

    Nir Drayman et al.
    Single-cell analyses of cells infected by Herpes Simplex Virus 1 revealed extreme heterogeneity among infected cells, including the robust activation of developmental gene programs in highly infected cells.
    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. Developmental Biology
    2. Evolutionary Biology

    Domestic chickens activate a piRNA defense against avian leukosis virus

    Yu Huining Sun et al.
    To protect the germ line genome, chickens acquire new small RNA-based immune defense in response to recently endogenized retroviruses by turning a truncated provirus into a weapon.
    1. Cell Biology
    2. Stem Cells and Regenerative Medicine

    PCGF6-PRC1 suppresses premature differentiation of mouse embryonic stem cells by regulating germ cell-related genes

    Mitsuhiro Endoh et al.
    PCGF6 links sequence specific target recognition by the MAX/MGA transcription factor complex to PRC1 (polycomb repressive complex 1) -dependent transcriptional silencing of germ cell-specific genes in mouse pluripotent stem cells.
    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.

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