5,725 results found
    1. Cancer Biology
    2. Computational and Systems Biology

    Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

    Malene Juul et al.
    A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.
    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

    Hyperactivation of ERK by multiple mechanisms is toxic to RTK-RAS mutation-driven lung adenocarcinoma cells

    Arun M Unni et al.
    Cancer cells driven by mutations in KRAS or EGFR are dependent on DUSP6 to prevent ERK-induced cell death, creating a novel vulnerability for targeted therapy.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Host-selected mutations converging on a global regulator drive an adaptive leap towards symbiosis in bacteria

    M Sabrina Pankey et al.
    Selective forces imposed by the squid animal host drive rapid adaptation of non-native Vibrio fischeri bacteria through convergent mutations of large effect, unmasking preexisting coordinated regulation of symbiosis.
    1. Cancer Biology

    Bladder-cancer-associated mutations in RXRA activate peroxisome proliferator-activated receptors to drive urothelial proliferation

    Angela M Halstead et al.
    Bladder-cancer-associated RXRA mutations were found to stimulate urothelial proliferation through a mechanism susceptible to small molecule inhibitors of Peroxisome Proliferator-Activated Receptors, credentialing a new class of targetable drivers of bladder cancer.
    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. Biochemistry and Chemical Biology
    2. Immunology and Inflammation

    Rasgrp1 mutation increases naïve T-cell CD44 expression and drives mTOR-dependent accumulation of Helios+ T cells and autoantibodies

    Stephen R Daley et al.
    A single point mutation in a Ras activator leads to aberrant constitutive mTOR signaling in peripheral T cells that consequently accumulate as abnormal T helper cells and stimulate the production of autoantibodies by B cells.
    1. Neuroscience

    A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

    Yishan Sun et al.
    A human cellular model of a prototypical form of intractable childhood epilepsy supports selective impairment of inhibitory neurons as a key pathophysiological mechanism.
    1. Microbiology and Infectious Disease

    Programmed knockout mutation of liver fluke granulin attenuates virulence of infection-induced hepatobiliary morbidity

    Patpicha Arunsan et al.
    Gene knockout of liver fluke granulin by CRISPR/Cas9 attenuates the virulence of infection with a carcinogenic liver fluke.

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