Results 1 to 10 of about 1,908,891 (267)

Dihydropteroate synthase gene mutations in Pneumocystis and sulfa resistance [PDF]

open access: yes, 2004
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]

open access: yesProceedings of the National Academy of Sciences, 2006
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

open access: yesAxioms, 2023
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]

open access: yes, 2006
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]

open access: yes, 2008
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

open access: yesJournal of Applied Probability, 2023
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]

open access: yes, 2011
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]

open access: yesProceedings of the National Academy of Sciences, 2014
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]

open access: yes, 2001
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]

open access: yesAustralian Journal of Biological Sciences, 1974
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

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