Dihydropteroate synthase gene mutations in Pneumocystis and sulfa resistance [PDF]
Pneumocystis pneumonia (PCP) remains a major cause of illness and death in HIV-infected persons. Sulfa drugs, trimethoprim-sulfamethoxazole (TMP-SMX) and dapsone are mainstays of PCP treatment and prophylaxis.
Meja Rabodonirina +20 more
core +1 more source
Efficiency of carcinogenesis with and without a mutator mutation [PDF]
Carcinogenesis involves the acquisition of multiple genetic changes altering various cellular phenotypes. These changes occur within the fixed time period of a human lifespan, and mechanisms that accelerate this process are more likely to result in clinical cancers.
Robert A, Beckman, Lawrence A, Loeb
openaire +2 more sources
Estimating the Rate of Mutation to a Mutator Phenotype
A mutator is a variant in a population of organisms whose mutation rate is higher than the average mutation rate in the population. For genetic and population dynamics reasons, mutators are produced and survive with much greater frequency than anti-mutators (variants with a lower-than-average mutation rate).
Isaac Vázquez-Mendoza +4 more
openaire +2 more sources
Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa +13 more
core +1 more source
Studies of JAK2 mutations in myeloproliferative disorders [PDF]
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
core +1 more source
A spatial mutation model with increasing mutation rates
AbstractWe consider a spatial model of cancer in which cells are points on the d-dimensional torus $\mathcal{T}=[0,L]^d$ , and each cell with $k-1$ mutations acquires a kth mutation at rate $\mu_k$ . We assume that the mutation rates $\mu_k$ are increasing, and we find the asymptotic waiting time for the first cell to acquire k mutations as the ...
Brian Chao, Jason Schweinsberg
openaire +6 more sources
K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M. +17 more
core +1 more source
Mutational landscape of yeast mutator strains [PDF]
Significance Deficiencies in genome maintenance genes (so-called mutator genes) result in increased mutagenesis that impacts cell evolvability. How the mutational processes drive the evolution of genome structure is not well understood. Here, we used high-throughput sequencing to characterize the mutation events (from punctual mutations to ...
Alexandre, Serero +4 more
openaire +2 more sources
K-ras and p53 mutations in colonic lavage fluid of patients with colorectal neoplasias [PDF]
Background: The adenoma-carcinoma sequence has its molecular basis in several gene mutations of which K-ras and p53 are of paramount importance. The aims of this study were to evaluate whether these genetic alterations can be detected in colonic lavage ...
Folwaczny, Christian +3 more
core +1 more source
Mutation Spectra and the Neutrality of Mutations [PDF]
The effect of amino acid replacements on enzyme function was studied in the tJ-galactosidase of Escherichia coli. Mutants possessing 50% or less of normal enzyme activity were isolated and examined. Of 733 amino acid substitutions calculated to have occurred, only 11 reduced tJ-galactosidase activity below 50 %.
openaire +2 more sources

