5 results found
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

    Matteo D'Antonio et al.
    Analysis of the major histocompatibility complex using whole genome sequencing and RNA-seq data from hundreds of individuals provides novel insights into mechanisms underlying associations of this interval with disease.
    1. Immunology and Inflammation

    ENaC-mediated sodium influx exacerbates NLRP3-dependent inflammation in cystic fibrosis

    Thomas Scambler et al.
    Dysfunction and overexpression of ENaC-mediated sodium influx exacerbates activation of NLRP3-inflammasome mediated inflammation in cells with CF-associated mutations and is modulated by inhibition of these amiloride-sensitive sodium (Na+) channels.
    1. Structural Biology and Molecular Biophysics

    Cystic fibrosis drug ivacaftor stimulates CFTR channels at picomolar concentrations

    László Csanády, Beáta Töröcsik
    Aqueous solubility of cystic fibrosis drug ivacaftor is ~200-fold lower, whereas the potency of its stimulatory effect on the CFTR channel is >100-fold higher, than reported, and is fully reversible.
    1. Genetics and Genomics
    2. Structural Biology and Molecular Biophysics

    SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion

    Saumel Ahmadi et al.
    Loss of an amino acid transporter and tissue depletion of nitric oxide worsens the intestinal function of CF mice, a finding that potentially explains variation in disease severity amongst CF individuals.
    1. Computational and Systems Biology

    Unravelling druggable signalling networks that control F508del-CFTR proteostasis

    Ramanath Narayana Hegde et al.
    Analysis of the mechanism of action of cystic fibrosis corrector drugs reveals signalling pathways potently controlling the proteostasis of the main disease-relevant CFTR mutant.

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