Results 11 to 20 of about 14,999,742 (341)
Effective Temperature of Mutations [PDF]
Physical Review Letters, 2015 Biological macromolecules experience two seemingly very different types of noise acting on different time scales: (i) point mutations corresponding to changes in molecular sequence and (ii) thermal fluctuations. Examining the secondary structures of a large number of microRNA precursor sequences and model lattice proteins, we show that the effects of ...
Derényi, Imre, Szöllősi, Gergely J
openaire +2 more sources
Topography of mutational signatures in human cancer
Cell Reports, 2023 Summary: The somatic mutations found in a cancer genome are imprinted by different mutational processes. Each process exhibits a characteristic mutational signature, which can be affected by the genome architecture.
Burçak Otlu +6 more
doaj +1 more source
Computational and Structural Biotechnology Journal, 2012 The combination of computational and directed evolution methods has proven a winning strategy for protein engineering. We refer to this approach as computer-aided protein directed evolution (CAPDE) and the review summarizes the recent developments in ...
Rajni Verma +2 more
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Collateral fitness effects of mutations [PDF]
Proceedings of the National Academy of Sciences, 2019 The distribution of fitness effects of mutation plays a central role in constraining protein evolution. The underlying mechanisms by which mutations lead to fitness effects are typically attributed to changes in protein specific activity or abundance.
Jacob D. Mehlhoff +9 more
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AlphaFold2 Can Predict Single-Mutation Effects
Physical Review Letters, 2022 AlphaFold2 (AF) is a promising tool, but is it accurate enough to predict single mutation effects? Here, we report that the localized structural deformation between protein pairs differing by only 1-3 mutations – as measured by the effective strain – is correlated across 3,901 experimental and AF-predicted structures.
John M. McBride +5 more
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Divergent mutational processes distinguish hypoxic and normoxic tumours. [PDF]
, 2020 Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular hallmarks of tumour hypoxia remain poorly understood, with limited comprehension of its associations with specific ...
Bhandari, Vinayak +4 more
core +1 more source
Andrologia, 2020 Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with male infertility. In our previous study, we identified a homozygous CFAP43 splice‐site variant, c.3661‐2delA, in a patient with MMAF.
Lin Li +4 more
semanticscholar +1 more source
Characterization of SARS-CoV-2 Mutational Signatures from 1.5+ Million Raw Sequencing Samples
Viruses, 2022 We present a large-scale analysis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) substitutions, considering 1,585,456 high-quality raw sequencing samples, aimed at investigating the existence and quantifying the effect of mutational ...
Andrea Aroldi +8 more
doaj +1 more source
Blood, 2023 High Dose Melphalan (HDM) improves progression free survival (PFS) in multiple myeloma (MM), yet melphalan is a DNA damaging alkylating agent, so we assessed its mutational effect on surviving myeloma cells by analyzing paired MM samples collected at ...
M. Samur +18 more
semanticscholar +1 more source
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
Molecular Systems Biology, 2020 To deal with the huge number of novel protein‐coding variants identified by genome and exome sequencing studies, many computational variant effect predictors (VEPs) have been developed.
B. Livesey, J. Marsh
semanticscholar +1 more source