Search results for "genotype"
showing 10 items of 1725 documents
Plasma selenium levels and oxidative stress biomarkers: a gene-environment interaction population-based study.
2014
The role of selenium exposure in preventing chronic disease is controversial, especially in selenium-repleted populations. At high concentrations, selenium exposure may increase oxidative stress. Studies evaluating the interaction of genetic variation in genes involved in oxidative stress pathways and selenium are scarce. We evaluated the cross-sectional association of plasma selenium concentrations with oxidative stress levels, measured as oxidized to reduced glutathione ratio (GSSG/GSH), malondialdehyde (MDA), and 8-oxo-7,8-dihydroguanine (8-oxo-dG) in urine, and the interacting role of genetic variation in oxidative stress candidate genes, in a representative sample of 1445 men and women…
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
Clinical significance of the polymerase chain reaction (PCR) assay in chronic HBV carriers
1992
PCR was evaluated as a clinical tool for use in accurate identification of the specific etiologic agent in chronic HBV carriers. The method was found to be valuable in diagnosis and for monitoring therapy, as well as for elucidation of genotypic variants of HBV in chronic HBV cases. By this means an HBV defective variant with alterations in the preSl/preS2 sequence was detected and is consequently described here.
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
2017
PubMed ID: 29047407
Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR
2015
Background: Clinical assessment and prognostic stratification of primary varicose veins have remained controversial and the molecular pathogenesis is unknown. Previous data have suggested a contribution of the MTHFR (methylenetetrahydrofolate reductase) polymorphism c.677C>T. Methods: We collected blood and vein specimens from 159 consecutive patients undergoing varicose vein surgery, or autologous vein reconstruction for arterial occlusive disease as controls. We compared the frequencies of c.677C>T and another polymorphism of MTHFR, c.1298A>C, with morphology and types of complicated disease. Morphology was recorded as a trunk or perforator type and peripheral congestive complication was …
Wspólne DNA liturgii Wschodu i Zachodu
2018
Chociaż liturgia Kościoła w każdej z tradycji liturgicznych posiada własne cechy charakterystyczne będące wynikiem odrębnej ewolucji oraz różnego rozłożenia akcentów teologicznych i celebracyjnych, to w swojej istocie jest jedną i tą samą liturgią jednego Kościoła. W punkcie wyjścia niniejszego studium ukazano elementy różniące poszczególne ryty w Kościele, a następnie te, które składają się na wspólny genotyp wszystkich wspólnot. Wśród nich szczególną uwagę zwrócono na liturgię żydowską, głoszenie kerygmatu, życie sakramentalne, wspólną geografię początków, euchologię wraz z ukrytym w niej lex orandi oraz strukturę Modlitwy Eucharystycznej.
Association between genetic variations in the insulin/insulin-like growth factor (Igf-1) signaling pathway and longevity: a systematic review and met…
2013
Some studies have shown that polymorphisms in the insulin growth factor-1 (IGF-1) signaling pathway genes could influence human longevity. However, the results of different studies are often inconsistent. Our aim was to investigate by systematic review and meta-analysis the association of the common polymorphisms defining the genetic variability of the IGF-1 signaling pathway associated with human longevity. Eleven studies investigating the association between the polymorphisms in the IGF-1 signaling pathway genes (IGF-1, IGF-1 receptor (IGF-1R), Forkhead box O3A (FOXO3A) and Silent mating type Information Regulation 1 (SIRT1) and longevity were found and analyzed. The modelfree approach wa…
Data from: Multi-modal defenses in aphids offer redundant protection and increased costs likely impeding a protective mutualism
2018
1.The pea aphid, Acyrthosiphon pisum, maintains extreme variation in resistance to its most common parasitoid wasp enemy, Aphidius ervi, which is sourced from two known mechanisms: protective bacterial symbionts, most commonly Hamiltonella defensa, or endogenously encoded defenses. We have recently found that individual aphids may employ each defense individually, occasionally both defenses together, or neither. 2.In field populations, Hamiltonella-infected aphids are found at low to moderate frequencies and while less is known about the frequency of resistant genotypes, they show up less often than susceptible genotypes in field collections. To better understand these patterns, we sought t…
Data from: Coinfection outcome in an opportunistic pathogen depends on the inter-strain interactions
2017
Background In nature, organisms are commonly coinfected by two or more parasite strains, which has been shown to influence disease virulence. Yet, the effects of coinfections of environmental opportunistic pathogens on disease outcome are still poorly known, although as host-generalists they are highly likely to participate in coinfections. We asked whether coinfection with conspecific opportunistic strains leads to changes in virulence, and if these changes are associated with bacterial growth or interference competition. We infected zebra fish (Danio rerio) with three geographically and/or temporally distant environmental opportunist Flavobacterium columnare strains in single and in coinf…
Data from: Host infection history modifies co-infection success of multiple parasite genotypes
2016
1. Co-infections by multiple parasite genotypes are common and have important implications for host-parasite ecology and evolution through within-host interactions. Typically, these infections take place sequentially and therefore, the outcome of co-infection may be shaped by host immune responses triggered by previous infections. For example, in vertebrates specific immune responses play a central role in protection against disease over the course of life, but co-infection research has mostly focused on previously uninfected individuals. 2. Here, we investigated whether sequential exposure and activation of host resistance in rainbow trout Oncorhynchus mykiss affects infection success and …