Results 1 to 10 of about 14,999,742 (341)
MERIT: Systematic Analysis and Characterization of Mutational Effect on RNA Interactome Topology. [PDF]
Hepatology, 2019 The interaction between RNA‐binding proteins (RBPs) and RNA plays an important role in regulating cellular function. However, decoding genome‐wide protein–RNA regulatory networks as well as how cancer‐related mutations impair RNA regulatory activities in
Li Y +14 more
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Evolutionary accessibility of mutational pathways. [PDF]
PLoS Computational Biology, 2011 Functional effects of different mutations are known to combine to the total effect in highly nontrivial ways. For the trait under evolutionary selection ('fitness'), measured values over all possible combinations of a set of mutations yield a fitness ...
Jasper Franke +3 more
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Updated benchmarking of variant effect predictors using deep mutational scanning
Molecular Systems Biology, 2023 The assessment of variant effect predictor (VEP) performance is fraught with biases introduced by benchmarking against clinical observations. In this study, building on our previous work, we use independently generated measurements of protein function ...
Benjamin J Livesey, Joseph A Marsh
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A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. [PDF]
Biomed Res Int, 2013 Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood.
Lee SK +5 more
europepmc +2 more sources
Variant effect predictions capture some aspects of deep mutational scanning experiments
BMC Bioinformatics, 2020 Background Deep mutational scanning (DMS) studies exploit the mutational landscape of sequence variation by systematically and comprehensively assaying the effect of single amino acid variants (SAVs; also referred to as missense mutations, or non ...
Jonas Reeb, Theresa Wirth, Burkhard Rost
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Interpreting protein variant effects with computational predictors and deep mutational scanning
Disease Models & Mechanisms, 2022 Computational predictors of genetic variant effect have advanced rapidly in recent years. These programs provide clinical and research laboratories with a rapid and scalable method to assess the likely impacts of novel variants.
Benjamin J. Livesey, Joseph A. Marsh
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BMC Genomics, 2006 Background Genome-wide profiling has allowed the regulatory interaction networks of many organisms to be visualised and the pattern of connections between genes to be studied.
Schneider Dominique +3 more
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Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types.
PLoS Genetics, 2016 Disruption of gene regulation is known to play major roles in carcinogenesis and tumour progression. Here, we comprehensively characterize the mutational profiles of diverse transcription factor binding sites (TFBSs) across 1,574 completely sequenced ...
Vera B Kaiser +2 more
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Biomedicines, 2023 The spike protein (S-protein) is a crucial part of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), with its many domains responsible for binding, fusion, and host cell entry.
Wai-Yim Ching +3 more
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Biota. Human. Technology, 2023 In recent years, interest in the role of nanoparticles has increased significantly, in particular, their ability to influence mutagenesis is being studied. Studying the effect of nanoparticles on the functioning of eukaryotes using the example of a test
Anastasia Yaschenko +3 more
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