FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2883778889> ?p ?o ?g. }

• W2883778889 endingPage "1923" @default.
• W2883778889 startingPage "1912" @default.
• W2883778889 abstract "Once whole-genome sequencing has reached the clinical practice, a main challenge ahead is the high-throughput and accurate prediction of the pathogenicity of genetic variants. However, current prediction tools do not consider explicitly a well-known property of disease-causing mutations: their ability to affect multiple functional sites distant in the protein structure. Here we carried out an extensive biophysical characterization of fourteen mutant variants at two cancer-associated sites of the enzyme NQO1, a paradigm of multi-functional protein. We showed that the magnitude of destabilizing effects, their molecular origins (structural vs. dynamic) and their efficient propagation through the protein structure gradually led to functional perturbations at different sites. Modulation of these structural perturbations also led to switches between molecular phenotypes. Our work supports that experimental and computational perturbation analyses would improve our understanding of the molecular basis of many loss-of-function genetic diseases as well as our ability to accurately predict the pathogenicity of genetic variants in a high-throughput fashion." @default.
• W2883778889 created "2018-08-03" @default.
• W2883778889 creator A5065820626 @default.
• W2883778889 date "2018-10-01" @default.
• W2883778889 modified "2023-10-18" @default.
• W2883778889 title "Biophysical and functional perturbation analyses at cancer-associated P187 and K240 sites of the multifunctional NADP(H):quinone oxidoreductase 1" @default.
• W2883778889 cites W1784526222 @default.
• W2883778889 cites W1925723678 @default.
• W2883778889 cites W1963514938 @default.
• W2883778889 cites W1964610252 @default.
• W2883778889 cites W1965127482 @default.
• W2883778889 cites W1967544359 @default.
• W2883778889 cites W1983032234 @default.
• W2883778889 cites W1983537258 @default.
• W2883778889 cites W1990780198 @default.
• W2883778889 cites W1991007595 @default.
• W2883778889 cites W2008400945 @default.
• W2883778889 cites W2008819364 @default.
• W2883778889 cites W2022582116 @default.
• W2883778889 cites W2023490488 @default.
• W2883778889 cites W2027863431 @default.
• W2883778889 cites W2031351234 @default.
• W2883778889 cites W2038222142 @default.
• W2883778889 cites W2038795649 @default.
• W2883778889 cites W2044423214 @default.
• W2883778889 cites W2062680909 @default.
• W2883778889 cites W2069510803 @default.
• W2883778889 cites W2078419867 @default.
• W2883778889 cites W2087437523 @default.
• W2883778889 cites W2087542439 @default.
• W2883778889 cites W2087878478 @default.
• W2883778889 cites W2088791759 @default.
• W2883778889 cites W2089869974 @default.
• W2883778889 cites W2092232457 @default.
• W2883778889 cites W2093397766 @default.
• W2883778889 cites W2099057076 @default.
• W2883778889 cites W2099648155 @default.
• W2883778889 cites W2099952208 @default.
• W2883778889 cites W2105063863 @default.
• W2883778889 cites W2115503115 @default.
• W2883778889 cites W2121545035 @default.
• W2883778889 cites W2130638014 @default.
• W2883778889 cites W2131858055 @default.
• W2883778889 cites W2142380955 @default.
• W2883778889 cites W2150195578 @default.
• W2883778889 cites W2194825708 @default.
• W2883778889 cites W2204938055 @default.
• W2883778889 cites W2227187202 @default.
• W2883778889 cites W2317932472 @default.
• W2883778889 cites W2398942016 @default.
• W2883778889 cites W2510961440 @default.
• W2883778889 cites W2530105067 @default.
• W2883778889 cites W2562940458 @default.
• W2883778889 cites W2565419690 @default.
• W2883778889 cites W2590509488 @default.
• W2883778889 cites W2606362592 @default.
• W2883778889 cites W2611648778 @default.
• W2883778889 cites W2612243116 @default.
• W2883778889 cites W2614802632 @default.
• W2883778889 cites W2724842601 @default.
• W2883778889 cites W2733048333 @default.
• W2883778889 cites W2743061231 @default.
• W2883778889 cites W2754391532 @default.
• W2883778889 cites W2766503732 @default.
• W2883778889 cites W2767490762 @default.
• W2883778889 cites W4246588390 @default.
• W2883778889 cites W4293247451 @default.
• W2883778889 doi "https://doi.org/10.1016/j.ijbiomac.2018.07.051" @default.
• W2883778889 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30009918" @default.
• W2883778889 hasPublicationYear "2018" @default.
• W2883778889 type Work @default.
• W2883778889 sameAs 2883778889 @default.
• W2883778889 citedByCount "18" @default.
• W2883778889 countsByYear W28837788892018 @default.
• W2883778889 countsByYear W28837788892019 @default.
• W2883778889 countsByYear W28837788892020 @default.
• W2883778889 countsByYear W28837788892021 @default.
• W2883778889 countsByYear W28837788892022 @default.
• W2883778889 countsByYear W28837788892023 @default.
• W2883778889 crossrefType "journal-article" @default.
• W2883778889 hasAuthorship W2883778889A5065820626 @default.
• W2883778889 hasConcept C104317684 @default.
• W2883778889 hasConcept C105951970 @default.
• W2883778889 hasConcept C127716648 @default.
• W2883778889 hasConcept C141231307 @default.
• W2883778889 hasConcept C143065580 @default.
• W2883778889 hasConcept C54355233 @default.
• W2883778889 hasConcept C64502627 @default.
• W2883778889 hasConcept C70721500 @default.
• W2883778889 hasConcept C86803240 @default.
• W2883778889 hasConcept C89423630 @default.
• W2883778889 hasConceptScore W2883778889C104317684 @default.
• W2883778889 hasConceptScore W2883778889C105951970 @default.
• W2883778889 hasConceptScore W2883778889C127716648 @default.
• W2883778889 hasConceptScore W2883778889C141231307 @default.
• W2883778889 hasConceptScore W2883778889C143065580 @default.
• W2883778889 hasConceptScore W2883778889C54355233 @default.
• W2883778889 hasConceptScore W2883778889C64502627 @default.

• next