Cis-regulatory mutations with driver hallmarks in major cancers
Sign Up to like & getrecommendations! Published in 2021 at "iScience"
DOI: 10.1016/j.isci.2021.102144
Abstract: Summary Despite the recent availability of complete genome sequences of tumors from thousands of patients, isolating disease-causing (driver) non-coding mutations from the plethora of somatic variants remains challenging, and only a handful of validated examples… read more here.
Keywords: mutations driver; regulatory mutations; non coding; expression ... See more keywords
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Sign Up to like & getrecommendations! Published in 2019 at "Trends in Neurosciences"
DOI: 10.1016/j.tins.2018.11.002
Abstract: Advances in sequencing technology have significantly expanded our understanding of the genetics of autism and neurodevelopmental disorders (NDDs). Continued technological improvements and cost reductions have now shifted the focus to investigations into the functional noncoding… read more here.
Keywords: mutations neurodevelopmental; role novo; regulatory mutations; novo noncoding ... See more keywords
Network Topology Can Explain Differences in Pleiotropy Between Cis- and Trans-regulatory Mutations
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Biology and Evolution"
DOI: 10.1093/molbev/msac266
Abstract: Abstract A mutation's degree of pleiotropy (i.e., the number of traits it alters) is predicted to impact the probability of the mutation being detrimental to fitness. For mutations that impact gene expression, mutations acting in… read more here.
Keywords: topology; affecting expression; trans regulatory; regulatory mutations ... See more keywords
Expression inheritance and constraints on cis- and trans-regulatory mutations underlying lotus color variation.
Sign Up to like & getrecommendations! Published in 2022 at "Plant physiology"
DOI: 10.1093/plphys/kiac522
Abstract: Both cis- and trans-regulatory mutations drive changes in gene expression that underpin plant phenotypic evolution. However, how and why these two major types of regulatory mutations arise in different genes and how gene expression is… read more here.
Keywords: trans regulatory; lotus; color; regulatory mutations ... See more keywords