141 results found
    1. Cancer Biology

    Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

    Simeon U Springer et al.
    The creation of a non-invasive assay for detecting urothelial cancer could have a profound impact on how we find and treat the disease.
    1. Cell Biology
    2. Human Biology and Medicine

    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

    Nuno Rocha et al.
    Specific human mitofusin 2 mutations induce selective upper body obesity with suppressed leptin expression and severe adipose mitochondrial dysfunction.
    1. Cell Biology
    2. Immunology and Inflammation

    Immunosuppression via adenosine receptor activation by adenosine monophosphate released from apoptotic cells

    Hiroshi Yamaguchi et al.
    Apoptotic cells release molecules to recruit macrophages, but do not cause inflammation because they also secrete AMP that functions as a ‘calm down’ signal.
    1. Cell Biology

    GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain

    Hung-Hsiang Huang et al.
    GnT1IP-L is a membrane bound glycoprotein that interacts with MGAT1 in the Golgi, but not in the endoplasmic reticulum, to regulate complex N-glycan synthesis.
    1. Computational and Systems Biology
    2. Human Biology and Medicine

    In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta

    Maria Pernemalm et al.
    Comprehensive mass spectrometry analysis of human plasma proteome reveals tissue leakage proteins, describes variability between individual plasma proteomes and demonstrates protein transfer across the placenta during pregnancy.
    1. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

    Meritxell Espino Guarch et al.
    SLC7A8 a neutral amino acid transporter has a key role in the maintenance of hearing during aging and its absence causes early onset of hearing loss.
    1. Stem Cells and Regenerative Medicine

    Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

    Diego Balboa et al.
    Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.
    1. Cancer Biology

    KEAP1 loss modulates sensitivity to kinase targeted therapy in lung cancer

    Elsa B Krall et al.
    Loss of KEAP1 modulates sensitivity to targeted therapies in lung cancer.
    1. Neuroscience

    Sparse genetic tracing reveals regionally specific functional organization of mammalian nociceptors

    William Olson et al.
    Single-nociceptor tracing reveals a novel somatotopic organization for the mammalian pain system, and physiological recordings and peripheral optogenetic behavior assays suggest that it is a possible mechanism underlying region-specific pain sensation.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Hemozoin produced by mammals confers heme tolerance

    Rini H Pek et al.
    Heme accumulation is toxic, but deficiency of the heme transporter HRG1/SLC48A1 causes heme sequestration and crystallization into hemozoin within enlarged lysosomes of macrophages, thereby conferring heme tolerance to mammals.

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