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61.
Erhan Teker A. Basak Akadam-Teker Oguz Ozturk Allison Pinar Eronat Kivanc Yalin S. Ebru Golcuk Zehra Bugra 《Biochemical genetics》2018,56(3):225-234
Interferon gamma (IFN-γ) is a multifunctional cytokine that plays an important role in modulating almost all phases of the immune response and may be responsible for the increased valvular fibrosis and calcification in the pathogenesis of rheumatic heart disease (RHD). The aim of this study was to investigate the possible relationship between the IFN-γ +874 T/A polymorphism and the severity of valvular damage in the Turkish population. The IFN-γ genotypes were determined in 152 RHD patients and 151 healthy controls by ARMS-PCR. Differences in genotype distribution between patients with RHD and control were evaluated by the χ2 test. All statistical analyses were performed with SPSS 15.0 Software program. Frequency of the AA genotype was found to be significantly lower and the TT genotype significantly higher in the RHD group compared to controls (p = 0.002 and p = 0.018, respectively). The TT genotype was found to be significantly higher (26.8% vs. 9.1%, p = 0.009) and the AA genotype significantly lower (29.1% vs. 8.2%, p = 0.001) in the severe valvular disease (SVD) group compared to mild valvular disease group. In the SVD group, 79 patients had mitral balloon valvotomy and/or mitral valve replacement and had significantly higher TT genotype compared to patients with medical follow-up (30.4% vs. 19%, p = 0.001). The data demonstrated that TT genotype is associated with both RHD and the severity of RHD. 相似文献
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Neurochemical Research - Acetazolamide (ACZ), a sulfonamide carbonic anhydrase (CA) inhibitor, was first introduced into medical use as a diuretic in the1950s. Shortly after its introduction, its... 相似文献
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The dopamine D4 receptor gene (DRD4) encodes a receptor for dopamine, a chemical messenger used in the brain. One variant of the DRD4 gene, the 7R allele, is believed to be associated with attention deficit hyperactivity disorder (ADHD). The aim of this study was to investigate the relationships between repeat polymorphisms in dopamine DRD4 and second language learning styles such as visual (seeing), tactile (touching), auditory (hearing), kinesthetic (moving) and group/individual learning styles, as well as the relationships among DRD4 gene polymorphisms and ADHD in undergraduate students. A total of 227 students between the ages of 17–21 years were evaluated using the wender utah rating scale and DSM-IV diagnostic criteria for ADHD. Additionally, Reid's perceptual learning style questionnaire for second language learning style was applied. In addition, these students were evaluated for social distress factors using the list of Threatening Events (TLE); having had no TLE, having had just one TLE or having had two or more TLEs within the previous 6 months before the interview. For DRD4 gene polymorphisms, DNA was extracted from whole blood using the standard phenol/chloroform method and genotyped using polymerase chain reaction. Second language learners with the DRD4.7+ repeats showed kinaesthetic and auditory learning styles, while students with DRD4.7-repeats showed visual, tactile and group learning, and also preferred the more visual learning styles \(\left( {\bar{X}:{ 3}. 70} \right)\) . We also demonstrated that the DRD4 polymorphism significantly affected the risk effect conferred by an increasing level of exposure to TLE. 相似文献
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Zehra Agha Zafar Iqbal Maleeha Azam Maimoona Siddique Marjolein H. Willemsen Tjitske Kleefstra Christiane Zweier Nicole de Leeuw Raheel Qamar Hans van Bokhoven 《Gene》2014
We report on a consanguineous Pakistani family with a severe congenital microcephaly syndrome resembling the Seckel syndrome and Jawad syndrome. The affected individuals in this family were born to consanguineous parents of whom the mother presented with mild intellectual disability (ID), epilepsy and diabetes mellitus. The two living affected brothers presented with microcephaly, white matter disease of the brain, hyponychia, dysmorphic facial features with synophrys, epilepsy, diabetes mellitus and ID. Genotyping with a 250K SNP array in both affected brothers revealed an 18 MB homozygous region on chromosome 18p11.21-q12.1 encompassing the SCKL2 locus of the Seckel and Jawad syndromes. Sequencing of the RBBP8 gene, underlying the Seckel and Jawad syndromes, identified the novel mutation c.919A > G, p.Arg307Gly, segregating in a recessive manner in the family. In addition, in the two affected brothers and their mother we have also found a heterozygous 607 kb deletion, encompassing exons 13–19 of NRXN1. Bidirectional sequencing of the coding exons of NRXN1 did not reveal any other mutation on the other allele. It thus appears that the phenotype of the mildly affected mother can be explained by the NRXN1 deletion, whereas the more severe and complex microcephalic phenotype of the two affected brothers is due to the simultaneous deletion in NRXN1 and the homozygous missense mutation affecting RBBP8. 相似文献
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Ziver T Yuksel P Ipek G Yekeler I Bayramoglu Z Tireli E Saribas S Aslan M Yalvac SD Ozdomanic I Torlak Z Dirican A Torun MM Kocazeybek B 《The new microbiologica》2010,33(3):233-242
Helicobacter pylori is thought to be related to atherosclerosis and aneurysm development. We aimed to detect virulance factors of H. pylori and examine the potential etiopathogenetic relationship between aortic aneurysm and H. pylori, 58 abdominal aortic aneurysm (AAA) and 38 ascending aortic aneurysm (AsAA) cases and 57 Healty control group (HCG) were included. We investigated H. pylori IgG by ELISA and virulance factors by Western-Blot (WB) method. No difference was found between AAA (67.24%), AsAA (73.68%) and HCG (57.89%) for H. pylori IgG (p > 0.05). A significant difference was found between AsAA (78.95%) and HCG (57.89%) for H.pylori IgG (p < 0.05) by ELISA and a significant difference was found only between AsAA (100%) and HCG (37.5%) for H. pylori IgG in the 45-55 age group by WB. A statistically significant difference was found between AAA and AsAA for VacA and CagA + VacA and CagA + VacA + UreA antigens and also a significant difference was found between AsAA and HCG for CagA + UreA antigens (p < 0.05). Finally, we suggest that H. pylori VacA has a more important role than CagA in the development of two aneurysms especially in ruptured AAA. New extended studies detecting H. pylori DNA are needed to detect the aetiopathogenesis between aneurysm types and H. pylori. 相似文献
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The purpose of this study was to investigate the oxidative status in experimental hypothyroidism and the antioxidant effect of taurine supplementation. Forty male Sprague Dawley rats were randomly divided into four groups (group 1, control; group 2, control + taurine; group 3, propylthiouracil (PTU); group 4, PTU + taurine). Hypothyroidism was induced by giving 0.05% PTU in drinking water for 8 weeks. Taurine was supplemented in drinking water at a concentration of 1% for 5 weeks. Plasma (p < 0.05), red blood cell (p < 0.01), liver (p < 0.001) and kidney tissue (p > 0.05) malondialdehyde levels were increased in the PTU group compared with those of the control rats and were decreased in the PTU + taurine group compared with the PTU alone group. No significant changes were observed in glutathione levels of kidney and liver in the PTU group, but taurine supplementation significantly increased the glutathione levels of these tissues. Paraoxonase and arylesterase activities were decreased in the PTU group while taurine supplementation caused no significant changes in paraoxonase and arylesterase activities. These findings suggest that taurine supplementation may play a protective role against the increased oxidative stress resulting from hypothyroidism. 相似文献
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Ludowyke RI Elgundi Z Kranenburg T Stehn JR Schmitz-Peiffer C Hughes WE Biden TJ 《Journal of immunology (Baltimore, Md. : 1950)》2006,177(3):1492-1499
Dynamic remodeling of the actinomyosin cytoskeleton is integral to many biological processes. It is regulated, in part, by myosin phosphorylation. Nonmuscle myosin H chain IIA is phosphorylated by protein kinase C (PKC) on Ser(1917). Our aim was to determine the PKC isoform specificity of this phosphorylation event and to evaluate its potential role in regulated secretion. Using an Ab against the phosphorylated form of Ser(1917), we show that this site is not phosphorylated in unstimulated RBL-2H3 mast cells. The physiological stimulus, Ag, or the pharmacological activators, PMA plus A23187, induced Ser(1917) phosphorylation with a time course coincident with the onset of granule mediator secretion. Dephosphorylation at this site occurred as Ag-stimulated secretion declined from its peak, but dephosphorylation was delayed in cells activated with PMA plus A23187. Phosphate incorporation was also enhanced by PMA alone and by inhibition of protein phosphatase 2A. G?6976, an inhibitor of conventional PKC isoforms, abolished secretion and Ser(1917) phosphorylation with similar dose dependencies consistent with involvement of either PKCalpha or PKCbeta. Phorbol ester-stimulated Ser(1917) phosphorylation was reconstituted in HEK-293 cells (which lack endogenous PKCbeta) by overexpression of both wild-type and constitutively active PKCbetaII but not the corresponding PKCbetaI or PKCalpha constructs. A similar selectivity for PKCbetaII overexpression was also observed in MIN6 insulinoma cells infected with recombinant PKC wild-type adenoviruses. Our results implicate PKC-dependent phosphorylation of myosin H chain IIA in the regulation of secretion in mast cells and suggest that Ser(1917) phosphorylation might be a marker of PKCbetaII activation in diverse cell types. 相似文献
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Tiziana Centofanti Zehra Sayers Maria Isabel Cabello-Conejo Petra Kidd Naoko K. Nishizawa Yusuke Kakei Allen P. Davis Richard C. Sicher Rufus L. Chaney 《Plant and Soil》2013,373(1-2):59-75