Results 121 to 130 of about 2,663,291 (229)
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes ...
Rohan Ameratunga +9 more
doaj +1 more source
Epistasis in a model of molecular signal transduction. [PDF]
Biological functions typically involve complex interacting molecular networks, with numerous feedback and regulation loops. How the properties of the system are affected when one, or several of its parts are modified is a question of fundamental interest,
Alain Pumir, Boris Shraiman
doaj +1 more source
Genetic draft, selective interference, and population genetics of rapid adaptation [PDF]
To learn about the past from a sample of genomic sequences, one needs to understand how evolutionary processes shape genetic diversity. Most population genetic inference is based on frameworks assuming adaptive evolution is rare.
Neher, Richard A.
core +1 more source
Directed evolution of a beta‐lactamase samples a wide variety of conformational states
Abstract In directed evolution, enzyme activity is improved in successive generations of laboratory evolution, which can be described by a simple stepwise climb toward a peak in the fitness landscape. In a naive model of evolution, it can be assumed that each enzyme variant along this path is in a single, well‐defined state that differs slightly from ...
Jing Sun +4 more
wiley +1 more source
Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import
About a thousand genes in the human genome encode for membrane transporters. Among these, several solute carrier proteins (SLCs), representing the largest group of transporters, are still orphan and lack functional characterization.
E. Girardi +17 more
semanticscholar +1 more source
Epistasis not needed to explain low dN/dS
An important question in molecular evolution is whether an amino acid that occurs at a given position makes an independent contribution to fitness, or whether its effect depends on the state of other loci in the organism's genome, a phenomenon known as ...
AL Halpern +19 more
core +1 more source
Accelerating epistasis analysis in human genetics with consumer graphics hardware [PDF]
Abstract Background Human geneticists are now capable of measuring more than one million DNA sequence variations from across the human genome. The new challenge is to develop computationally feasible methods capable of analyzing these data for associations with common human disease, particularly in the context of ...
NA Sinnott Armstrong +3 more
openaire +5 more sources
Modular epistasis and the compensatory evolution of gene deletion mutants. [PDF]
Screens for epistatic interactions have long been used to characterize functional relationships corresponding to protein complexes, metabolic pathways, and other functional modules.
José I Rojas Echenique +3 more
doaj +1 more source
BackgroundExtracellular ATP is a pro-inflammatory molecule released by damaged cells. Regulatory T cells (Treg) can suppress inflammation by hydrolysing this molecule via ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), also termed as CD39 ...
R. Melchiotti +12 more
semanticscholar +1 more source
Independently evolving populations may adapt to similar selection pressures via different genetic changes. The interactions between such changes, such as in a hybrid individual, can inform us about what course adaptation may follow and allow us to ...
Jasmine Ono +2 more
doaj +1 more source

