Articles with "effects mutations" as a keyword



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Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study

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Published in 2017 at "Journal of Cellular Biochemistry"

DOI: 10.1002/jcb.25984

Abstract: α‐thalassemia mental retardation X‐linked (ATRX) syndrome is caused by the dysfunction of ATRFfigX protein. The present study explored the structural consequences influenced by two observed mutations V194I and C220R on ADD domain of ATRX protein… read more here.

Keywords: deciphering molecular; molecular dynamics; atrx syndrome; add domain ... See more keywords
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BayeStab: Predicting effects of mutations on protein stability with uncertainty quantification

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Published in 2022 at "Protein Science"

DOI: 10.1002/pro.4467

Abstract: Predicting protein thermostability change upon mutation is crucial for understanding diseases and designing therapeutics. However, accurately estimating Gibbs free energy change of the protein remained a challenge. Some methods struggle to generalize on examples with… read more here.

Keywords: bayestab predicting; uncertainty; predicting effects; bayestab ... See more keywords
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Deep generative models of genetic variation capture the effects of mutations

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Published in 2018 at "Nature Methods"

DOI: 10.1038/s41592-018-0138-4

Abstract: The functions of proteins and RNAs are defined by the collective interactions of many residues, and yet most statistical models of biological sequences consider sites nearly independently. Recent approaches have demonstrated benefits of including interactions… read more here.

Keywords: models genetic; effects mutations; generative models; capture ... See more keywords
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Epistatic drift causes gradual decay of predictability in protein evolution

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Published in 2022 at "Science"

DOI: 10.1126/science.abn6895

Abstract: Epistatic interactions can make the outcomes of evolution unpredictable, but no comprehensive data are available on the extent and temporal dynamics of changes in the effects of mutations as protein sequences evolve. Here, we use… read more here.

Keywords: drift causes; evolution epistatic; epistatic interactions; epistatic drift ... See more keywords