6,157 results found
    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    1. Evolutionary Biology

    Multi-step vs. single-step resistance evolution under different drugs, pharmacokinetics, and treatment regimens

    Claudia Igler et al.
    The number and effects of mutations leading to full drug resistance crucially determine treatment failure probability and should be used to inform antimicrobial treatment strategies with regard to avoidance of resistance emergence.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    The Spike D614G mutation increases SARS-CoV-2 infection of multiple human cell types

    Zharko Daniloski et al.
    A pervasive mutation in the Spike protein of the coronavirus that causes COVID-19 results in virions that are up to eightfold more infectious.
    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. Epidemiology and Global Health
    2. Genetics and Genomics

    Patterns of within-host genetic diversity in SARS-CoV-2

    Gerry Tonkin-Hill et al.
    Characterisation of within-host diversity of SARS-CoV-2 provides insights into the mutational and selective mechanisms driving its evolution and has important implications for using within-host variation to inform transmission inference efforts.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Recurrent evolution of high virulence in isolated populations of a DNA virus

    Tom Hill, Robert L Unckless
    The same host–virus interactions can evolve multiple times in nature, due to the high effective mutation rate of viruses, and provide interesting systems of study.
    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. Evolutionary Biology

    Contingency and chance erase necessity in the experimental evolution of ancestral proteins

    Victoria Cochran Xie et al.
    Replicating experimental evolution from ancestral proteins shows that historical contingency steadily overwhelms chance and necessity as the primary cause of evolutionary variation in molecular sequences on long phylogenetic timescales.
    1. Microbiology and Infectious Disease

    RNA polymerase mutations cause cephalosporin resistance in clinical Neisseria gonorrhoeae isolates

    Samantha G Palace et al.
    Ceftriaxone resistance has arisen multiple times in clinical gonococcal populations via previously undescribed RNA polymerase mutations, underscoring the importance of continued surveillance for novel resistance determinants.
    1. Structural Biology and Molecular Biophysics

    Interplay of disordered and ordered regions of a human small heat shock protein yields an ensemble of ‘quasi-ordered’ states

    Amanda F Clouser et al.
    Multiple iso-energetic-specific interactions involving the intrinsically-disordered region of sHSP HSPB1 define a quasi-ordered state, providing insights into inherited disease-associated mutations within the region that are thought to be disordered.

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