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排序方式: 共有193条查询结果,搜索用时 15 毫秒
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P. Zhang HB. Du GD. Tong XK. Li XH. Sun XL. Chi YF. Xing ZH. Zhou Q. Li B. Chen H. Wang L. Wang H. Jin DW. Mao XB. Wang QK. Wu FP. Li XY. Hu BJ. Lu ZY. Yang MX. Zhang WB. Shi Q. He Y. Li KP. Jiang JD. Xue XD. Li JM. Jiang W. Lu GJ. Tian ZB. Hu JC. Guo CZ. Li X. Deng XL. Luo FY. Li XW. Zhang YJ. Zheng G. Zhao LC. Wang JH. Wu H. Guo YQ. Mi ZJ. Gong CB. Wang F. Jiang P. Guo XZ. Yang WQ. Shi HZ. Yang Y. Zhou NN. Sun YT. Jiao YQ. Gao DQ. Zhou YA. Ye 《Journal of viral hepatitis》2018,25(9):ii-ii
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Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease 总被引:2,自引:0,他引:2
X-linked chronic granulomatous disease (CGD) is due to mutations in the gp91phox gene on Xp21.1. Studies in white and Japanese X-linked CGD patients have shown mutations in nearly every exon. We studied the molecular defect of seven Chinese patients with X-linked CGD from six unrelated families. Mutations were located by single-strand conformation polymorphism and then defined by sequence analysis. The mutations were two different amino acid substitutions, a nonsense mutation, an in-frame trinucleotide deletion, a single A insertion causing a frameshift, and a premature stop. Lastly, a rare splice site mutation caused by G to A transition at the terminal nucleotide of exon 3, resulting in the skipping of exon 3, was found. The possible effects of these mutations on protein structure-function or splicing were discussed. Together with previous reports, the A insertion in the run of six As from nucleotide 749 to 754 and the G to A transition at the terminal position of exon 3 may be mutation hotspots of the gp91phox gene. The extreme heterogeneous mutations found in our patients suggest the absence of ethnic group-specific mutation. 相似文献
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Objective To determine whether learning deficits could be seen in transgenic mice expressi ng human amyloid precursor protein 770 (APP770).Methods Female heterozygous transgenic and nontransgenic mice aged 3, 6 and 9 months at the start of testing were used, with eight mice in each age group.All mice wer e subjected to various behavioral tasks including the Y-maze task and the Morri s water maze.After behavioral testing, the mice were sacrificed, and their bra in tissues were used for measuring the choline acetyltransferase (ChAT) activity . Results Nine-month-old transgenic mice exhibited spatial learning deficits in the Morr is water maze and in spontaneous alternation in the Y-maze, compared with those o f the age-matched non-transgenic mice.The behavioral changes accompanied a red uction of ChAT activity in the cortical and hippocampal regions of transgenic mi ce.On the other hand, these behavioral deficits were not observed in transgeni c mice either at 3 or at 6 months of age, in which ChAT activity remained unchan ged. Conclusions The present results show that the learning impairment observed in 9-month-old APP770 transgenic mice are accompanied by a decrease in cortical and hippo campal ChAT activities.This suggests that cholinergic deficits may be involved in the learning impairment observed in these APP770 mice.This model wi ll be a useful tool in advancing our understanding of the relationship between t he cholinergic system and the cognitive deficits observed in Alzheimer’s disease (AD). 相似文献
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Yamikani Chimalizeni Kondwani Kawaza Terrie Taylor Malcolm Molyneux 《The American journal of tropical medicine and hygiene》2010,83(1):48-50
We conducted this study to determine the prognostic significance of the platelet count in children with cerebral malaria. We studied children with cerebral malaria admitted to the pediatric research ward at Queen Elizabeth Central Hospital, Malawi. We analyzed 1,811 children with cerebral malaria and compared them with 521 children with bacterial meningitis. There was a significant difference in platelet counts between children with cerebral malaria and those with meningitis. Among children with cerebral malaria, there was no relationship between the platelet count and either the admission coma score or the eventual outcome. Those with malarial retinopathy were more thrombocytopenic than those without. Our results suggest that the platelet count is not prognostic in Malawian children with cerebral malaria. 相似文献