Search results for " Polymorphism."
showing 10 items of 1006 documents
Genotyping of GII.4 and GIIb norovirus RT-PCR amplicons by RFLP analysis
2007
GII.4 and GIIb/Hilversum norovirus (NoV) strains appear to have a prominent epidemiological role in outbreaks or sporadic cases of human gastroenteritis. Sequence analysis, although laborious, is the reference method used for characterization of noroviruses. In this study a screening test is proposed to characterize GIIb and GII.4 NoVs based on restriction fragment length polymorphism (RFLP) analysis of amplicons obtained from the RNA-dependent RNA polymerase (RdRp) region. Virtual analysis of 793 RdRp sequences of GGI and GGII NoVs, retrieved from GenBank, and representative of global geographical origins on a long-time period, permitted the selection of four restriction enzymes, XmnI, Ahd…
Two single nucleotide polymorphisms in the MICA gene and sMICA plasma levels are associated with hepatocellular carcinoma development in an Italian p…
2017
Background & Aims: We investigated the relationships between MICA polymorphisms, sMICA levels and hepatocellular carcinoma (HCC) risk in HCC patients with chronic hepatitis C virus (HCV) infection. Methods.154 HCV-related HCC cases, 93 HCV-related liver cirrhosis (LC) cases and 244 healthy controls were genotyped using KASPTM SNP method. Levels of plasma soluble MICA (sMICA) were measured in 132 HCC, 90 LC patients and in 78 controls. Results. Genotyping of MICA rs2596542 showed that G/G genotype was significantly more frequent in HCC than in controls and in HCC than in LC patients. As for MICA rs2596538 allele C and C/C genotype were significantly more frequent in HCC than in controls …
Liver and Statins: A Critical Appraisal of the Evidence.
2019
Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…
Otite media atelettasica, adesiva, timpanosclerotica: update medico e chirurgico
2011
Otitis media secretive is one of the most common ear diseases characterized by frequent sequelae and complications; in particular the authors describe middle ear atelectasis with pocket retraction of tympanic membrane, pocket retraction limited to pars tensa or to pars flaccida, adhesive otitis media, partial or total myringosclerosis and tympanosclerosis. For each disease the Authors comment the best surgical approaches to preserve and restore conductive hearing loss. As for middle ear atelectasis, adhesive otitis media, myringosclerosis and partial tympanosclerosis it was evidenced a significant hearing gain while in total tympanosclerosis there was an initial hearing improvement in a sho…
The genome-wide structure of two economically important indigenous Sicilian cattle breeds
2014
Genomic technologies, such as highthroughput genotyping based on SNP arrays, provided background information concerning genome structure in domestic animals. The aim of this work was to investigate the genetic structure, the genome-wide estimates of inbreeding, coancestry, effective population size (Ne), and the patterns of linkage disequilibrium (LD) in 2 economically important Sicilian local cattle breeds, Cinisara (CIN) and Modicana (MOD), using the Illumina Bovine SNP50K v2 BeadChip. To understand the genetic relationship and to place both Sicilian breeds in a global context, genotypes from 134 other domesticated bovid breeds were used. Principal component analysis showed that the Sicil…
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multipl…
2020
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 ×
The evolutionary history of the Arabidopsis arenosa complex: diverse tetraploids mask the Western Carpathian center of species and genetic diversity.
2012
The Arabidopsis arenosa complex is closely related to the model plant Arabidopsis thaliana. Species and subspecies in the complex are mainly biennial, predominantly outcrossing, herbaceous, and with a distribution range covering most parts of latitudes and the eastern reaches of Europe. In this study we present the first comprehensive evolutionary history of the A. arenosa species complex, covering its natural range, by using chromosome counts, nuclear AFLP data, and a maternally inherited marker from the chloroplast genome [trnL intron (trnL) and trnL/F intergenic spacer (trnL/F-IGS) of tRNA(Leu) and tRNA(Phe), respectively]. We unravel the broad-scale cytogeographic and phylogeographic pa…
Thermal and light induced polymorphism in iron(II) spin crossover compounds.
2004
The spin crossover complexes {Fe[H2B(pz)2]2L} ([H2B(pz)2]2 = dihydrobis(pyrazolyl)borate, L = 2,2'-bipyridine (1), bipy and 1,10-phenanthroline, phen (2)) undergo both thermal and light induced spin crossover, but the structure of the low spin and light induced high spin states for 2 are different from that of the thermally induced high spin state and from those of 1. Real Cabezos, Jose Antonio, Jose.A.Real@uv.es
SNPs associated withHHIPexpression have differential effects on lung function in males and females
2019
AbstractAdult lung function is highly heritable and 279 genetic loci were recently reported as associated with spirometry-based measures of lung function. Though lung development and function differ between males and females throughout life, there has been no genome-wide study to identify genetic variants with differential effects on lung function in males and females. Here, we present the first genome-wide genotype-by-sex interaction study on four lung function traits in 303,612 participants from the UK Biobank. We detected five SNPs showing genome-wide significant (P<5 × 10−8) interactions with sex on lung function, as well as 21 suggestively significant interactions (P<1 × 10−6). T…
Data from: Gray plumage color is more cryptic than brown in snowy landscapes in a resident color polymorphic bird
2020
Camouflage may promote fitness of given phenotypes in different environments. The tawny owl (Strix aluco) is a colour polymorphic species with a grey and brown morph resident in the Western Palearctic. A strong selection pressure against the brown morph during snowy and cold winters has been documented earlier but the selection mechanisms remain unresolved. Here we hypothesise that selection favors the grey morph because it is better camouflaged against predators and mobbers in snowy conditions compared to the brown one. We conducted an online citizen science experiment where volunteers were asked to locate a grey or a brown tawny owl specimen from pictures taken in snowy and snowless lands…