Results 121 to 130 of about 2,663,291 (229)

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

open access: yesFrontiers in Immunology, 2018
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]

open access: yesPLoS Computational Biology, 2011
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]

open access: yes, 2013
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

open access: yesProtein Science, Volume 34, Issue 11, November 2025.
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

open access: yesNature Communications, 2020
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

open access: yes, 2012
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]

open access: yesBMC Research Notes, 2009
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]

open access: yesPLoS Genetics, 2019
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

Genetic analysis of an allergic rhinitis cohort reveals an intercellular epistasis between FAM134B and CD39

open access: yesBMC Medical Genetics, 2014
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

Widespread Genetic Incompatibilities between First-Step Mutations during Parallel Adaptation of Saccharomyces cerevisiae to a Common Environment.

open access: yesPLoS Biology, 2017
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

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