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101.
Tai-Seung Nam Jin Hee Kim Chi-Hsuan Chang Woong Yoon Yoon Seok Jung Sa-Yoon Kang Boo Ahn Shin Ming-Der Perng Seok-Yong Choi Myeong-Kyu Kim 《European journal of human genetics : EJHG》2015,23(1):72-78
Alexander disease (AxD) is an astrogliopathy that primarily affects the white matter of the central nervous system (CNS). AxD is caused by mutations in a gene encoding GFAP (glial fibrillary acidic protein). The GFAP mutations in AxD have been reported to act in a gain-of-function manner partly because the identified mutations generate practically full-length GFAP. We found a novel nonsense mutation (c.1000 G>T, p.(Glu312Ter); also termed p.(E312*)) within a rod domain of GFAP in a 67-year-old Korean man with a history of memory impairment and leukoencephalopathy. This mutation, GFAP p.(E312*), removes part of the 2B rod domain and the whole tail domain from the GFAP. We characterized GFAP p.(E312*) using western blotting, in vitro assembly and sedimentation assay, and transient transfection of human adrenal cortex carcinoma SW13 (Vim+) cells with plasmids encoding GFAP p.(E312*). The GFAP p.(E312*) protein, either alone or in combination with wild-type GFAP, elicited self-aggregation. In addition, the assembled GFAP p.(E312*) aggregated into paracrystal-like structures, and GFAP p.(E312*) elicited more GFAP aggregation than wild-type GFAP in the human adrenal cortex carcinoma SW13 (Vim+) cells. Our findings are the first report, to the best of our knowledge, on this novel nonsense mutation of GFAP that is associated with AxD and paracrystal formation. 相似文献
102.
Effects of fenofibrate on high-fat diet-induced body weight gain and adiposity in female C57BL/6J mice 总被引:3,自引:0,他引:3
Jeong S Han M Lee H Kim M Kim J Nicol CJ Kim BH Choi JH Nam KH Oh GT Yoon M 《Metabolism: clinical and experimental》2004,53(10):1284-1289
Our previous study suggested that fenofibrate affects obesity and lipid metabolism in a sexually dimorphic manner in part through the differential activation of hepatic peroxisome proliferator-activated receptor alpha (PPARalpha) in male and female C57BL/6J mice. To determine whether fenofibrate reduces body weight gain and adiposity in female sham-operated (Sham) and ovariectomized (OVX) C57BL/6J mice, the effects of fenofibrate on not only body weight, white adipose tissue (WAT) mass, and food intake, but also the expression of both leptin and PPARalpha target genes were measured. Compared to their respective low-fat diet-fed controls, both Sham and OVX mice exhibited increases in body weight and WAT mass when fed a high-fat diet. Fenofibrate treatment decreased body weight gain and WAT mass in OVX, but not in Sham mice. Furthermore, fenofibrate increased the mRNA levels of PPARalpha target genes encoding peroxisomal enzymes involved in fatty acid beta-oxidation, and reduced apolipoprotein C-III (apo C-III) mRNA, all of which were expressed at higher levels in OVX compared to Sham mice. However, leptin mRNA levels were found to positively correlate with WAT mass, and food intake was not changed in either OVX or Sham mice following fenofibrate treatment. These results suggest that fenofibrate differentially regulates body weight and adiposity due in part to differences in PPARalpha activation, but not to differences in leptin production, between female OVX and Sham mice. 相似文献
103.
Increased circulating CSF-1 (M-CSF) in myeloproliferative disease: association with myeloid metaplasia and peripheral bone marrow extension 总被引:3,自引:1,他引:3
Myeloproliferative disease (MPD) is heterogeneous in phenotypic expression and may display features consistent with expansion and activation of the monocyte/macrophage population during its course. The role of colony-stimulating factor-1 (CSF-1) in the pathophysiology of MPD was investigated by measuring circulating CSF-1 levels and examining their relationship to disease phenotype. Serum CSF-1 concentrations, measured by radioimmunoassay, were elevated in all MPD phenotypes. CSF-1 levels differed significantly between groups of patients with essential thrombocythemia, polycythemia vera, and postpolycythemic or agnogenic myeloid metaplasia (in ascending order). CSF-1 serum levels were positively correlated with spleen size and the degree of peripheral bone marrow extension, determined by scintigraphy using a macrophage-seeking isotope. There was no correlation between CSF-1 concentration and circulating levels of erythrocytes, neutrophils or platelets, or the presence of bone marrow fibrosis. Elevated serum CSF-1 levels appear to be associated with an expanded monocyte/macrophage population in MPD. In view of the known cooperativity between CSF-1 and other growth factors in regulating hematopoiesis, the finding of increased serum CSF-1 concentrations and its association with myeloid metaplasia and bone marrow extension may indicate a pathophysiologic role for CSF-1 in determining the phenotypic expression of MPD. 相似文献
104.
Truong Thi Vu Nu Nhu Hoa Thi Tran Eunjoo Nam Tan Tai Nguyen Won Jung Yoon Sungbo Cho Jungsuk Kim Keun-A. Chang Heongkyu Ju 《RSC advances》2018,8(14):7855
We present the immunoassay of tau proteins (total tau and phosphorylated tau) in human sera using surface plasmon resonance (SPR) fiber sensors. This assay aimed at harvesting the advantages of using both SPR fiber sensors and a blood-based assay to demonstrate label-free point-of-care-testing (POCT) patient-friendly assay in a compact format for the early diagnosis of Alzheimer''s disease (AD). For conducting the assay, we used human sera of 40 subjects divided into halves, which were grouped into AD patients and control groups according to a number of neuropsychological tests. We found that on an average, the concentrations of both total tau and phosphorylated tau proteins (all known to be higher in cerebrospinal fluid (CSF) and the brain) turned out to be higher in human sera of AD patients than in controls. The limits of detection of total tau and phosphorylated tau proteins were 2.4 pg mL−1 and 1.6 pg mL−1, respectively. In particular, it was found that the AD group exhibited average concentration of total tau proteins 6-fold higher than the control group, while concentration of phosphorylated tau proteins was 3-fold higher than that of the control. We can attribute this inhomogeneity between both types of tau proteins (in terms of increase of control-to-AD in average concentration) to un-phosphorylated tau proteins being more likely to be produced in blood than phosphorylated tau proteins, which possibly is one of the potential key elements playing an important role in AD progress.Blood-based early diagnosis of Alzheimer''s disease using a plasmonic fiber sensor that detects immunoreaction of tau proteins. 相似文献
105.
Ae-Young Her Eun-Seok Shin Joo Myung Lee Scot Garg Joon-Hyung Doh Chang-Wook Nam Bon-Kwon Koo 《The international journal of cardiovascular imaging》2018,34(9):1339-1347
There is limited data on the efficacy of paclitaxel-coated balloon (PCB) compared to stents for de novo coronary lesions. The purpose of this study was to compare the efficacy of PCB treatment with stent implantation for de novo coronary lesions after successful plain old balloon angioplasty (POBA) guided by fractional flow reserve (FFR). In 200 patients scheduled for elective percutaneous coronary intervention (PCI) for de novo lesions, FFR was measured after POBA (POBA–FFR). If POBA–FFR was ≥?0.75, patients were treated with PCB (PCB group, n?=?78) or stent (Stent group, n?=?73). If POBA–FFR was <?0.75, stent was implanted as planned (Reference group, n?=?42). The primary endpoint was late lumen loss at 9 months and the secondary endpoint was adverse cardiac events (cardiac death, myocardial infarction, target lesion thrombosis, or repeat revascularization) at 12 months follow-up. There was no between-group differences in the POBA–FFR (0.87?±?0.05 in PCB, 0.89?±?0.06 in stent, p?=?0.101). At 9 months, late lumen loss was significantly lower in the PCB group compared to the Stent group (0.05?±?0.33 vs. 0.59?±?0.76 mm, p?<?0.001). Adverse cardiac events were not different between the PCB, Stent and Reference groups (2.6, 5.5, and 9.5% respectively; p?=?0.430 for PCB vs. Stent group; p?=?0.229 for the reference vs. both other groups). PCB treatment guided by POBA–FFR showed excellent 9 months angiographic and functional results, as well as comparable 12 months clinical outcomes, compared with stent implantation for de novo coronary lesions. 相似文献
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110.
Jung Eui-Gil Han Kook-Il Kwon Hyun-Jung Patnaik Bharat Bhusan Kim Wan-Jong Hur Gang Min Nam Kung-Woo Han Man-Deuk 《Archives of pharmacal research》2015,38(6):973-983
Archives of Pharmacal Research - Sappanchalcone, a bioactive flavonoid isolated from the heartwood of Caesalpinia sappan L. possesses anti-inflammatory effects. We studied the efficacy of... 相似文献