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Dataset results
165 results for “Genetic mutation”
Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
ClinicalTrials.gov study NCT02557776. IPD Sharing: NO. Countries: 1. Publications: 1.
Telephone-Based Genetic Counseling or Standard Genetic Counseling in Women at Risk of Carrying the BRCA1 or BRCA2 Mutation
ClinicalTrials.gov study NCT00287898. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
ClinicalTrials.gov study NCT07215416. IPD Sharing: UNDECIDED. Countries: 0. Publications: 1.
The Role of Genetic Mutations and of Circulating mRNAs in Uveal Melanoma
ClinicalTrials.gov study NCT05179174. IPD Sharing: NO. Countries: 2. Publications: 4.
Efficacy and Safety Study of Niraparib in Melanoma With Genetic Homologous Recombination (HR) Mutation
ClinicalTrials.gov study NCT03925350. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
ClinicalTrials.gov study NCT05552157. IPD Sharing: YES. Countries: 14. Publications: 13.
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
ClinicalTrials.gov study NCT02380729. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
ClinicalTrials.gov study NCT02760849. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
ClinicalTrials.gov study NCT03667417. IPD Sharing: NO. Countries: 1. Publications: 54.
Search for New Genetic Mutations Major Effect in Crohn's Disease
ClinicalTrials.gov study NCT02851134. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Impact of Concomitant Genetic Alterations in EGFR Mutated Adenocarcinoma by NGS Analysis: A Multicenter Study
ClinicalTrials.gov study NCT04122833. IPD Sharing: NO. Countries: 1. Publications: 5.
Data from: Do genetic drift and accumulation of deleterious mutations preclude adaptation? Empirical investigation using RADseq in a northern lacustrine fish
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Data from: Disentangling the influence of mutation and migration in clonal seagrasses using the Genetic Distance Spectrum for microsatellites
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Data from: The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight to the evolutionary mutation spectrum
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Data from: Mutation is a sufficient and robust predictor of genetic variation for mitotic spindle traits in Caenorhabditis elegans
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Data from: Imprints from genetic drift and mutation imply relative divergence times across marine transition zones in a pan-European small pelagic fish (Sprattus sprattus)
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Data from: Benefit of transferred mutations is better predicted by the fitness of recipients than by their ecological or genetic relatedness
The effect of a mutation depends on its interaction with the genetic background in which it is assessed. Studies in experimental systems have demonstrated that such interactions are common among beneficial mutations and often follow a pattern consistent with declining evolvability of more fit genotypes. However, these studies generally examine the consequences of interactions between a small number of focal mutations. It is not clear, therefore, that findings can be extrapolated to natural populations, where new mutations may be transferred between genetically divergent backgrounds. We build on work that examined interactions between four beneficial mutations selected in a laboratory-evolved population of Escherichia coli to test how they interact with the genomes of diverse natural isolates of the same species. We find that the fitness effect of transferred mutations depends weakly on the genetic and ecological similarity of recipient strains relative to the donor strain in which the mutations were selected. By contrast, mutation effects were strongly inversely correlated to the initial fitness of the recipient strain. That is, there was a pattern of diminishing returns whereby fit strains benefited proportionally less from an added mutation. Our results strengthen the view that the fitness of a strain can be a major determinant of its ability to adapt. They also support a role for barriers of transmission, rather than differential selection of transferred DNA, as an explanation of observed phylogenetically determined patterns of restricted recombination among E. coli strains.
Data from: Bypass of genetic constraints during mutator evolution to antibiotic resistance
Genetic constraints can block many mutational pathways to optimal genotypes in real fitness landscapes, yet the extent to which this can limit evolution remains to be determined. Interestingly, mutator bacteria elevate only specific types of mutations, and therefore could be very sensitive to genetic constraints. Testing this possibility is not only clinically relevant, but can also inform about the general impact of genetic constraints in adaptation. Here, we evolved 576 populations of two mutator and one wild-type Escherichia coli to doubling concentrations of the antibiotic cefotaxime. All strains carried TEM-1, a β-lactamase enzyme well known by its low availability of mutational pathways. Crucially, one of the mutators does not elevate any of the relevant first-step mutations known to improve cefatoximase activity. Despite this, both mutators displayed a similar ability to evolve more than 1000-fold resistance. Initial adaptation proceeded in parallel through general multi-drug resistance mechanisms. High-level resistance, in contrast, was achieved through divergent paths; with the a priori inferior mutator exploiting alternative mutational pathways in PBP3, the target of the antibiotic. These results have implications for mutator management in clinical infections and, more generally, illustrate that limits to natural selection in real organisms are alleviated by the existence of multiple loci contributing to fitness.
Data from: Mutation rate dynamics in a bacterial population reflect tension between adaptation and genetic load
Mutations are the ultimate source of heritable variation for evolution. Understanding how mutation rates themselves evolve is thus essential for quantitatively understanding many evolutionary processes. According to theory, mutation rates should be minimized for well-adapted populations living in stable environments, whereas hypermutators may evolve if conditions change. However, the long-term fate of hypermutators is unknown. Using a phylogenomic approach, we found that an adapting Escherichia coli population that first evolved a mutT hypermutator phenotype was later invaded by two independent lineages with mutY mutations that reduced genome-wide mutation rates. Applying neutral theory to synonymous substitutions, we dated the emergence of these mutations and inferred that the mutT mutation increased the point-mutation rate by ~150-fold, while the mutY mutations reduced the rate by ~40-60%, with a corresponding decrease in the genetic load. Thus, the long-term fate of the hypermutators was governed by the selective advantage arising from a reduced mutation rate as the potential for further adaptation declined.
Data from: Fixation of mutators in asexual populations: the role of genetic drift and epistasis
We study the evolutionary dynamics of an asexual population of nonmutators and mutators on a class of epistatic fitness landscapes. We consider the situation in which all mutations are deleterious and mutators are produced from nonmutators continually at a constant rate. We find that in an infinitely large population, a minimum nonmutator-to-mutator conversion rate is required to fix the mutators but an arbitrarily small conversion rate results in the fixation of mutators in a finite population. We calculate analytical expressions for the mutator fraction at mutation-selection balance and fixation time for mutators in a finite population when the difference between the mutation rate for mutator and nonmutator is smaller (regime I) and larger (regime II) than the selection coefficient. Our main result is that in regime I, the mutator fraction and the fixation time are independent of epistasis but in regime II, mutators are rarer and take longer to fix when the decrease in fitness with the number of deleterious mutations occurs at an accelerating rate (synergistic epistasis) than at a diminishing rate (antagonistic epistasis). Our analytical results are compared with numerics and their implications are discussed.
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OpenNeuro
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