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    1. Genetics and Genomics
    2. Human Biology and Medicine

    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. Chromosomes and Gene Expression

    Nonsense mRNA suppression via nonstop decay

    Joshua A Arribere, Andrew Z Fire
    Nonstop mRNA decay degrades mRNAs with a premature stop codon after such mRNAs are targeted by the nonsense-mediated decay machinery.
    1. Cell Biology

    mRNA Decay: How cells kill a "killer" messenger

    Cosmin Saveanu, Alain Jacquier
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    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin et al.
    Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.
    1. Biochemistry and Chemical Biology
    2. Developmental Biology

    O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals

    Shogo Sawaguchi et al.
    The transfer of O-GlcNAc by EOGT to specific EGF repeats of NOTCH1 promotes DLL4 binding, Notch signaling, and retinal vascular development.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Proteasome storage granules protect proteasomes from autophagic degradation upon carbon starvation

    Richard S Marshall, Richard D Vierstra
    Proteasomes are protected from autophagic elimination upon carbon starvation by sequestration into cytoplasmic storage granules, which aid cell fitness by providing a cache of proteasomes that can be rapidly remobilized when carbon availability improves.
    1. Chromosomes and Gene Expression

    The fail-safe mechanism of post-transcriptional silencing of unspliced HAC1 mRNA

    Rachael Di Santo et al.
    The unspliced HAC1 mRNA does not give rise to detectable protein in budding yeast, despite its cytoplasmic localization, due to a two-part post-transcriptional silencing mechanism.
    1. Cancer Biology
    2. Chromosomes and Gene Expression

    Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance

    Rachel W Anantha et al.
    Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
    1. Neuroscience

    The Na+/Ca2+, K+ exchanger NCKX4 is required for efficient cone-mediated vision

    Frans Vinberg et al.
    Molecular, genetic, and functional analysis is used to show that the olfactory Na+/Ca2+, K+ exchanger NCKX4 is expressed in cone photoreceptors and is critical for the wide operating range and high temporal resolution of cone-mediated vision.
    1. Microbiology and Infectious Disease

    Adaptive tuning of mutation rates allows fast response to lethal stress in Escherichia coli

    Toon Swings et al.
    Population mutation rates are highly flexible and evolvable under extreme stress conditions, matching changes in selective pressure to avoid extinction of the entire population.