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61.
Marian Suarez-Gestal Manuel Calaza Em?ke Endreffy Rudolf Pullmann Josep Ordi-Ros Gian Domenico Sebastiani Sarka Ruzickova Maria Jose Santos Chryssa Papasteriades Maurizio Marchini Fotini N Skopouli Ana Suarez Francisco J Blanco Sandra D'Alfonso Marc Bijl Patricia Carreira Torsten Witte Sergio Migliaresi Juan J Gomez-Reino Antonio Gonzalez 《Arthritis research & therapy》2009,11(3):R69
Introduction
We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.Methods
We selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension. Comparison of allele frequencies between cases and controls was done with the Mantel–Haenszel approach to account for heterogeneity between sample collections.Results
A previously controversial association with a SNP in the TYK2 gene was replicated (odds ratio (OR) = 0.79, P = 2.5 × 10-5), as well as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085 in women), which had only been reported in a single study, and association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK (OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR = 0.84, P = 0.001), which have been identified in a genome-wide association study, but not found in any other study. All these replications showed the same disease-associated allele as originally reported. No association was found with the LY9 SNP, which had been reported in a single study.Conclusions
Our results confirm nine SLE loci. For six of them, TYK2, MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important. The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly confirmed. Our results also suggest that MECP2 association has no influence in the sex bias of SLE, contrary to what has been proposed. In addition, none of the other associations seems important in this respect. 相似文献62.
Altered anxiety-related behavior in nociceptin/orphanin FQ receptor gene knockout mice 总被引:2,自引:1,他引:2
Studies showed that nociceptin/orphanin FQ (N/OFQ) peptide receptor (NOP) agonists produce anxiolytic-like actions, while little is known about the effects of blockade of NOP receptor signaling in anxiety. To this aim, we investigated the behavioral phenotype of NOP receptor gene knockout mice (NOP(-/-)) in different assays. In the elevated plus-maze and light-dark box, NOP(-/-) mice displayed increased anxiety-related behavior. In the novelty-suppressed feeding behavior and elevated T-maze, NOP(-/-) mice showed anxiolytic-like phenotype, while no differences were found in the open-field, hole-board, marble-burying, and stress-induced hyperthermia. Altogether, these findings suggest that the N/OFQ-NOP receptor system modulates anxiety-related behavior in a complex manner. 相似文献
63.
64.
65.
Alicia Rojas Fernando Morales-Calvo Harold Salant Domenico Otranto Gad Baneth 《The Yale journal of biology and medicine》2021,94(2):331
The parasitic filarioid Onchocerca lupi causes ocular disease characterized by conjunctivitis and nodular lesions. This nematode was first described in 1967 in a wolf from Georgia, and since then cases of infection from dogs and cats with ocular onchocercosis and sporadically from humans also with subcutaneous and cervical lesions caused by O. lupi have been reported from the Middle East, Europe, and North America. Due to its zoonotic potential, this parasitic infection has gained attention in the past 20 years. Phylogenetic studies have highlighted the recent divergence of O. lupi from other Onchocerca spp. and the importance of domestication in the evolutionary history of this worm. Moreover, the finding of an O. lupi genotype associated with subclinical and mild infection in the Iberian Peninsula, raises important questions about the pathogenicity of this presently enigmatic parasite. 相似文献
66.
Nicola Martinelli Michela Traglia Natascia Campostrini Ginevra Biino Michela Corbella Cinzia Sala Fabiana Busti Corrado Masciullo Daniele Manna Sara Previtali Annalisa Castagna Giorgio Pistis Oliviero Olivieri Daniela Toniolo Clara Camaschella Domenico Girelli 《PloS one》2012,7(10)
The recent discovery of hepcidin, the key iron regulatory hormone, has changed our view of iron metabolism, which in turn is long known to be linked with insulin resistant states, including type 2 diabetes mellitus and the Metabolic Syndrome (MetS). Serum ferritin levels are often elevated in MetS (Dysmetabolic hyperferritinemia - DHF), and are sometimes associated with a true mild-to-moderate hepatic iron overload (dysmetabolic iron overload syndrome - DIOS). However, the pathophysiological link between iron and MetS remains unclear. This study was aimed to investigate, for the first time, the relationship between MetS and hepcidin at population level. We measured serum hepcidin levels by Mass Spectrometry in 1,391 subjects from the Val Borbera population, and evaluated their relationship with classical MetS features. Hepcidin levels increased significantly and linearly with increasing number of MetS features, paralleling the trend of serum ferritin. In multivariate models adjusted for relevant variables including age, C-Reactive Protein, and the HFE C282Y mutation, ferritin was the only significant independent predictor of hepcidin in males, while in females MetS was also independently associated with hepcidin. Overall, these data indicate that the fundamental iron regulatory feedback is preserved in MetS, i.e. that hepcidin tends to progressively increase in response to the increase of iron stores. Due to recently discovered pleiotropic effects of hepcidin, this may worsen insulin resistance and contribute to the cardiovascular complications of MetS. 相似文献
67.
Pangallo D Drahovska H Harichova J Karelova E Chovanova K Aradska J Ferianc P Turna J Timko J 《Antonie van Leeuwenhoek》2008,93(1-2):193-203
The aim of the work was the evaluation of different PCR-based methods to found an appropriate identification and typing strategy
for environmental enterococci. Environmental enterococci were isolated mainly from surface- and waste-waters. Species identification
was provided by combination of phenotypic (Micronaut System, Merlin) and molecular detection methods (fluorescent ITS-PCR,
ddl-PCR, REP-PCR, AFLP). Very similar results were observed among molecular methods, however several discrepancies were recognized
during comparison of molecular and biochemical identification. Seven enterococcal species (E. faecium, E. hirae, E. casseliflavus, E. mundtii, E. faecalis, E. durans and E. gallinarum) were identified within 166 environmental isolates. The results obtained in this work attest the importance of PCR-based
methods for identification and typing of environmental enterococci. The fluorescent ITS-PCR (fITS-PCR) showed the best results
in order to identify the enterococci strains, the method used the automated capillary electrophoresis to separate the PCR
products in a very rapid and precise way. The AFLP method was suitable to identify and characterize the isolates, while the
REP-PCR can be used for species identification. 相似文献
68.
Buonavoglia D Greco G Quaranta V Corrente M Martella V Decaro N 《The new microbiologica》2008,31(1):117-123
The immunogenicity and efficacy of three inactivated vaccines (A, B, C) prepared with Mycoplasma agalactiae (M. agalactiae) and with different oil-emulsion adjuvants were evaluated in sheep. Twenty-eight animals were used, divided into four groups (a, b, c, d) of seven animals each. Three groups were immunized with the same vaccine, but using different adjuvants, while one group (d) was used as an unvaccinated control group. All the vaccine formulations were able to induce clinical protection of animals after challenge with M. agalactiae, but only vaccine C, emulsioned with Montanide ISA-563, Marcol-52 and Montane-80 (ratio: 30%, 63%, 7% respectively), was able to induce full protection in challenged animals, preventing both the onset of clinical signs and infection by M. agalactiae. 相似文献
69.
Cytochrome c-induced cytosolic nicotinamide adenine dinucleotide oxidation,mitochondrial permeability transition,and apoptosis 总被引:5,自引:0,他引:5
La Piana G Marzulli D Consalvo MI Lofrumento NE 《Archives of biochemistry and biophysics》2003,410(2):201-211
A catalytic amount of cytochrome c (cyto-c) added to the incubation medium of isolated mitochondria promotes the transfer of reducing equivalents from extramitochondrial nicotinamide adenine dinucleotide in its reduced state (NADH) to molecular oxygen inside the mitochondria, a process coupled to the generation of a membrane potential. This mimics in many aspects the early stages of those apoptotic pathways characterized by the persistence of mitochondrial membrane potential but with cyto-c already exported into the cytosol. In cyclosporin-sensitive and calcium-induced mitochondrial permeability transition (MPT) a release of cyto-c can also be observed. However, in MPT uncoupled respiration associated with mitochondrial swelling and preceded by the complete dissipation of the membrane potential which cannot be restored with ATP addition or any other source of energy is immediately activated. The results obtained and discussed with regard to intactness of mitochondrial preparations indicate that MPT could be an apoptotic event downstream but not upstream of cyto-c release linked to the energy-requiring processes. In the early stages of apoptosis cytosolic cyto-c participates in the activation of caspases and at the same time can promote the oxidation of cytosolic NADH, making more energy available for the correct execution of the cell death program. This hypothesis is not in contrast with available data in the literature showing that cyto-c is present in the cytosol of both control and apoptosis-induced cultured cell lines. 相似文献
70.
Roberta Grande Domenico Corsi Raffaello Mancini Donatello Gemma Fabrizio Ciancola Isabella Sperduti Lorena Rossi Agnese Fabbri Maria G. Diodoro Enzo Ruggeri Germano Zampa Sara Bianchetti Teresa Gamucci 《PloS one》2013,8(12)