Search results for "Variation"
showing 10 items of 2124 documents
Diabetes: Genetic variation underpins metformin response.
2016
Metformin is the first-line antidiabetic drug with over 100 million users worldwide, yet its mechanism of action remains unclear1. Here the Metformin Genetics (MetGen) Consortium reports a three-stage genome-wide association study (GWAS), consisting of 13,123 participants of different ancestries. The C allele of rs8192675 in the intron of SLC2A2, which encodes the facilitated glucose transporter GLUT2, was associated with a 0.17% (p=6.6×10−14) greater metformin-induced in haemoglobin A1c (HbA1c) in 10,577 participants of European ancestry. rs8192675 is the top cis expression quantitative trait locus (cis-eQTL) for SLC2A2 in 1,226 human liver samples, suggesting a key role for hepatic GLUT2 …
Six années de suivi du flux d'érosion éolienne sur un sol sableux cultivé au Sahel : Impacts des résidus de culture et de l'encroûtement
2013
In the Sahel, wind erosion occurs particularly in cultivated fields. This work was leaded at Banizoumbou in Niger where wind erosion fluxes have been measured for six years. The aims of this study was i) to monitor crop residues cover on traditional field and to quantify its influence on wind erosion ii) to characterize the impacts of soils crusting on erosion flux, iii) to characterize the impact of herbaceous strips on wind flux. Results showed that crop residues efficiently prevent cultivated fields from wind erosion during the dry season (January to April) and considerably reduce erosion fluxes at the beginning of the rainy season (May to July). Under a minimal crop residues cover rate …
Diel vertical movements of zooplankton in lake La Cruz (Cuenca, Spain)
2000
The study of diel vertical movements of zooplankton in a small meromictic karstic lake (lake La Cruz), presenting highly stratified waters, was performed using two different methodologies: (i) samples were taken along the vertical profile and were compared at different hours in a diel cycle; (ii) some plankton traps were located at different depths, covering different periods of time, to catch organisms going upwards and downwards. The main subject of this study has been the vertical movements affecting rotifers since they were dominant in the zooplankton of this lake, but we have also included the results obtained for other zooplankton groups. The results indicate an almost general movemen…
Assessing the influence of the amount of reachable habitat on genetic structure using landscape and genetic graphs.
2021
Genetic structure, i.e. intra-population genetic diversity and inter-population genetic differentiation, is influenced by the amount and spatial configuration of habitat. Measuring the amount of reachable habitat (ARH) makes it possible to describe habitat patterns by considering intra-patch and inter-patch connectivity, dispersal capacities and matrix resistance. Complementary ARH metrics computed under various resistance scenarios are expected to reflect both drift and gene flow influence on genetic structure. Using an empirical genetic dataset concerning the large marsh grasshopper (Stethophyma grossum), we tested whether ARH metrics are good predictors of genetic structure. We further i…
T-Cell Lymphoma Clonality by Copy Number Variation Analysis of T-Cell Receptor Genes
2021
Simple Summary T-cells defend the human body from pathogenic invasion via specific recognition by T-cell receptors (TCRs). The TCR genes undergo recombination (rearrangement) in a myriad of possible ways to generate different TCRs that can recognize a wide diversity of foreign antigens. However, in patients with T-cell lymphoma (TCL), a particular T-cell becomes malignant and proliferates, resulting in a population of genetically identical cells with same TCR rearrangement pattern. To help diagnose patients with TCL, a polymerase chain reaction (PCR)-based assay is currently used to determine if neoplastic cells in patient samples are of T-cell origin and bear identical (monoclonal) TCR rea…
The Absence of HIF-1α Increases Susceptibility to Leishmania donovani Infection via Activation of BNIP3/mTOR/SREBP-1c Axis
2020
Summary: Hypoxia-inducible factor-1 alpha (HIF-1α) is considered a global regulator of cellular metabolism and innate immune cell functions. Intracellular pathogens such as Leishmania have been reported to manipulate host cell metabolism. Herein, we demonstrate that myeloid cells from myeloid-restricted HIF-1α-deficient mice and individuals with loss-of-function HIF1A gene polymorphisms are more susceptible to L. donovani infection through increased lipogenesis. Absence of HIF-1α leads to a defect in BNIP3 expression, resulting in the activation of mTOR and nuclear translocation of SREBP-1c. We observed the induction of lipogenic gene transcripts, such as FASN, and lipid accumulation in inf…
Precision of a commercial hartmann-shack aberrometer: limits of total wavefront laser vision correction.
2012
Purpose To assess the intrasession and intersession precision of higher-order aberrations (HOAs) measured using a commercial Hartmann-Shack wavefront sensor (Zywave; Bausch & Lomb) in refractive surgery candidates. Design Prospective, experimental study of a device. Methods To analyze intrasession repeatability, 1 experienced examiner measured 30 healthy eyes 5 times successively. To study intersession reproducibility, the same clinician obtained measurements from another 30 eyes in 2 consecutive sessions at the same time of day 1 week apart. Results For intrasession repeatability, excellent intraclass correlation coefficients (ICCs) were obtained for total ocular aberrations, total HOAs, a…
Dystrophin-deficiency increases the susceptibility to doxorubicin-induced cardiotoxicity
2007
Background and aim: The clinical use of doxorubicin (DOX) and other anthracyclines is limited by a dosage-dependent cardiotoxicity, which can lead to cardiomyopathy. The role of the individual genetic makeup in this disorder is poorly understood. Alterations in genes encoding cardiac cytoskeleton or sarcolemma proteins may increase the susceptibility to doxorubicin-related cardiotoxicity. Methods: Female dystrophin-deficient mice (MDX) and age-matched wild-type mice underwent chronic treatment with doxorubicin. Cardiac function and tissue damage were assessed by echocardiography and histopathology, respectively. Gene expression changes were investigated using microarrays. Results: DOX treat…
Secular trends in muscular fitness among Finnish adolescents.
2010
Aim: To investigate secular change over time in health-related muscular fitness and how leisure time physical activity (LTPA), sport club participation, and body mass index are associated with muscular fitness in adolescents. Methods: Two cross-sectional samples of Finnish 13—16-year-old adolescents were studied in 1976 (n = 643; 312 boys and 331 girls) and in 2001 (n = 579; 308 boys and 271 girls). Muscular fitness index was calculated as the sum of age- and sex-specific z-scores of four tests measuring muscular fitness and agility. Height and weight were also measured. Self-reported weekly frequency of LTPA of at least 30-min duration and regularity of participation in organised sport we…
The Lr-Variational Integral
2022
AbstractWe define the $$L^r$$ L r -variational integral and we prove that it is equivalent to the $$HK_r$$ H K r -integral defined in 2004 by P. Musial and Y. Sagher in the Studia Mathematica paper The$$L^{r}$$ L r -Henstock–Kurzweil integral. We prove also the continuity of $$L^r$$ L r -variation function.