Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26880
Abstract: Heterozygosity for a 3‐base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning… read more here.
Keywords: gag; defects genetic; dystonia; genetic redundancy ... See more keywords
Predictive Models of Genetic Redundancy in Arabidopsis thaliana
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DOI: 10.1093/molbev/msab111
Abstract: Abstract Genetic redundancy refers to a situation where an individual with a loss-of-function mutation in one gene (single mutant) does not show an apparent phenotype until one or more paralogs are also knocked out (double/higher-order… read more here.
Keywords: arabidopsis thaliana; genetic redundancy; model; redundancy ... See more keywords
Fitness effects of mutation: testing genetic redundancy in Arabidopsis thaliana
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DOI: 10.1111/jeb.13081
Abstract: Screens of organisms with disruptive mutations in a single gene often fail to detect phenotypic consequences for the majority of mutants. One explanation for this phenomenon is that the presence of paralogous loci provides genetic… read more here.
Keywords: arabidopsis thaliana; genetic redundancy; fitness; redundancy ... See more keywords