A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. [PDF]
, 2015 Cystic Fibrosis (CF) is a monogenic disease caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic ...
Amato, Annalisa +10 more
core +1 more source
Mutational Analysis of the Murine Coronavirus Spike Protein: Effect on Cell-to-Cell Fusion
Virology, 1995 The spike (S) protein of murine coronavirus strain A59 (MHV-A59) is a type I membrane protein that induces membrane fusion. In this study we have analyzed the role of two domains in the S protein on fusion.
E. Bos, L. Heijnen, W. Luytjes, W. Spaan
semanticscholar +1 more source
Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing
FEBS Letters, EarlyView.Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley +1 more source
Loss of Heterozygosity associated with ubiquitous environments in yeast.
PLoS GeneticsThe effect of ubiquitous environmental conditions on mutational mechanisms, particularly loss of heterozygosity (LOH) remains poorly understood. Environment induced LOH can rapidly alter the genome and promote disease progression.
Nikilesh Vijayan +3 more
doaj +1 more source
Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8
Cell GenomicsSummary: Missense variants can have pleiotropic effects on protein function, and predicting these effects can be difficult. We performed near-saturation deep mutational scanning of P2RY8, a G protein-coupled receptor that promotes germinal center B cell ...
Taylor N. LaFlam +13 more
doaj +1 more source
Chloroplast microsatellites: measures of genetic diversity and the effect of homoplasy [PDF]
, 2005 Chloroplast microsatellites have been widely used in population genetic studies of conifers in recent years. However, their haplotype configurations suggest that they could have high levels of homoplasy, thus limiting the power of these molecular markers.
Doyle JJ +15 more
core +4 more sources
Mutation bias alters the distribution of fitness effects of mutations
PLOS BiologyMutation bias is an important factor determining the diversity of genetic variants available for selection. As adaptation proceeds and some beneficial mutations are fixed, new beneficial mutations become rare, limiting further adaptation.
Mrudula Sane +2 more
openaire +2 more sources
The role of histone modifications in transcription regulation upon DNA damage
FEBS Letters, EarlyView.This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley +1 more source
The risk of extinction - the mutational meltdown or the overpopulation
, 2006 The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented.
Malarz, K.
core +1 more source
Synthetic Gene Circuits: Design with Directed Evolution [PDF]
, 2007 Synthetic circuits offer great promise for generating insights into nature's underlying design principles or forward engineering novel biotechnology applications. However, construction of these circuits is not straightforward.
Arnold, Frances H., Haseltine, Eric L.
core +1 more source