Search results for "polymorphism"
showing 10 items of 1968 documents
An innovative way to highlight the power of each polymorphism on the elite athletes phenotype expression
2015
The purpose of this study was to determine the probability of soccer players having the best genetic background that could increase performance, evaluating the polymorphism that are considered Performance Enhancing Polymorphism (PEPs) distributed on five genes: PPARα, PPARGC1A, NRF2, ACE e CKMM. Particularly, we investigated how each polymorphism works directly or through another polymorphism to distinguish elite athletes from non-athletic population. Materials And Methods. Sixty professional soccer players (age 22.5 ± 2.2) and sixty healthy volunteers (age 21.2± 2.3) were enrolled. Samples of venous blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP pr…
An innovative way to highlight the power of each polymorphism on elite athletes phenotype expression
2017
The purpose of this study was to determine the probability of soccer players having the best genetic background that could increase performance, evaluating the polymorphism that are considered Performance Enhancing Polymorphism (PEPs) distributed on five genes: PPAR alpha, PPARGC1A, NRF2, ACE e CKMM. Particularly, we investigated how each polymorphism works directly or through another polymorphism to distinguish elite athletes from non-athletic population. Sixty professional soccer players (age 22.5 +/- 2.2) and sixty healthy volunteers (age 21.2 +/- 2.3) were enrolled. Samples of venous blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP protocols with …
Association of ADH4 genetic variants with alcohol dependence risk and related phenotypes: results from a larger multicenter association study
2011
Genetic variants of the alcohol-metabolizing enzyme ADH4, located on chromosome 4q22-4q23, have been related to alcohol dependence (AD) risk in previous research. The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to confirm ADH4 single nucleotide polymorphism (SNP) and haplotype association with AD and relevant related phenotypes. One thousand, six hundred and twenty-two (1622) inpatient subjects and 1469 control subjects with DSM-IV. AD from four addiction treatment centres were included. Characteristics of AD and related phenotypes including alcohol withdrawal, Cloninger's type I and II and first ages of drinking, regular drin…
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster
2011
Alcohol dependence (AD) is an important contributory factor to the global burden of disease. The etiology of AD involves both environmental and genetic factors, and the disorder has a heritability of around 50%. The aim of the present study was to identify susceptibility genes for AD by performing a genome-wide association study (GWAS). The sample comprised 1333 male in-patients with severe AD according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and 2168 controls. These included 487 patients and 1358 controls from a previous GWAS study by our group. All individuals were of German descent. Single-marker tests and a polygenic score-based analysis to assess the …
Genetics of the variable expression of CYP3A in humans.
2004
CYP3A isozymes participate in the metabolism of 45-60% of currently used drugs and of a variety of other compounds such as steroid hormones, toxins, and carcinogens. The CYP3A expression status is a major determinant of drug efficacy and safety, and it may also affect an individual's predisposition to certain cancers. The inter- and intraindividual expression of CYP3A is variable because of a complex interplay between genetic and environmental factors. Markers predictive of the individual CYP3A activity could improve therapies with CYP3A substrates by personalised dose adjustments, but their development has been slower than for other drug-metabolizing enzymes. Here we summarize the recent p…
Phase transitions in Ag-based solid electrolytes as detected by thermosonimetry
2001
Abstract Observations of the acoustic emission accompanying the solid–solid (polymorphic) phase changes in silver iodide and silver chalcogenides were performed. It has been found that the temperature dependencies of both the number of acoustic events and their counting rate, registered when heating the investigated materials, display distinct anomalies at the temperature corresponding to the polymorphic phase transition occurring in a given substance. The phase transition temperatures determined from the position of these anomalies agree well with the results of control DSC measurements, as well as with the literature data on the temperatures of the transition of investigated materials to …
Low-temperature polymorphism in tungsten trioxide powders and its dependence on mechanical treatments
1999
The polymorphism of WO3 powder samples, resulting from mild mechanical treatments and from temperature changes between 30 K and room temperature, has been investigated by using Raman spectroscopy and X-ray di⁄raction. A transition from the monoclinic (I) c-phase to the triclinic d-phase after moderate mechanical treatments has been observed for untreated powder, just what happens when the same samples are rapidly cooled to low-temperature. Evidences of the low temperature monoclinic (II) polar e-phase have been found at room temperature in samples after a stronger milling treatment. The sequence of the low-temperature phase transitions appears to be strongly dependent on the mechanical hist…
Chemistry and properties of solids with the [NZP] skeleton
1993
Abstract Solids with an [NZP] skeleton in their structure from a very broad family presenting very different properties with varying chemical composition. These properties range from radioactive nuclide immobilization and insulation to ionic and/or electronic conduction, extending to the field of very low thermal expansion among others. The open [NZP] skeleton provides the stability and flexibility necessary to form continuous ranges of solid solution, allowing the tailoring of the best composition-property-structure material. Chemical activity may become particularly high at the surface and absorption reactions and catalytic properties have the highest interest at present. In this paper, c…
Crystal polymorphism of (μ4–O)-body centered adamantanoid Cu(II) complexes
2016
Abstract Two novel polymorphs of [Cu4(μ4–O)(μ–Cl)6(DASO)4], (DASO = diallyl sulfoxide; C6H10OS), rhombic (C) and triclinic (D), were obtained and examined by single crystal X-ray diffraction analysis at two temperatures, 295(2) and 100(1) K. This study, in addition to our recent work on the tetragonal (A) and trigonal (B) forms of the title compound, allowed determining the nature of polymorphism and temperature-induced phase transitions. It is stated that both the packing arrangement and the displacive transformation integrate these structures, forming the symmetrically and thermodynamically related series: A,B → C → D. The C3h → C4 distortion of Cu(II) trigonal bipyramidal coordination ge…
Spin crossover star-shaped metallomesogens of iron(II).
2014
Three new types of spin crossover (SCO) metallomesogens of Fe-II based on symmetric tripod ligands and their magnetic and structural properties are reported here. These were obtained by condensation of tris(2-aminoethyl)-amin (tren) with the aldehyde derived from 3-alkoxy-6-methylpyridine (mpyN, N (number of carbon atoms in n-alkyl chains) = 8, 18), 1-alkyl-1H-imidazole (imN, N = 4, 16, 18, 20, 22), or 1-alkyl-1H-benzimidazole (bimN, N = 6, 14, 16, 18, 20). A complex derived from 1-octadecyl-1H-naphtho[2,3-d]imidazole (nim18) retains the high spin state at any temperature. Single crystals of the short-chain complexes were investigated by a combination of X-ray crystallography, magnetic meas…