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婴儿高胰岛素血症可能与SCHAD基因的一处新的剪切位点突变有关

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世界核心医学期刊文摘（儿科学分册） 2005年第10期1卷 59-59页

作者： Hussain k. Clayton P.T. krywawych S. 宁亮 U. Biochem. Endo crinol. and Metab. Institute of Child Health University College London 30 Guilford St London WC1N 1EH United Kingdom Dr.

Fatty acids play an important role in regulating insulin secretion, but the me chanisms are unclear. We report a case of a novel splice site mutation in the sh ort-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperi nsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.

关键词：剪切位点突变 SCHAD基因高胰岛素血症胰岛素分泌免疫源性成纤维细胞短链

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中国与乌兹别克斯坦:友好合作30年

欧亚经济 2022年第5期 1-30,125页

作者：姜岩 Ф.Н.阿尔济耶夫丁晓星 З.Б.尤努索娃强晓云许涛苏畅张慧聪 Ш.Р.阿利姆别科夫徐向梅(翻译) 不详中国现代国际关系研究院欧亚所乌兹别克斯坦外交部国际关系信息分析中心室上海国际问题研究院俄罗斯中亚研究中心国务院发展研究中心欧亚社会发展研究所中国社会科学院俄罗斯东欧中亚研究所中国社会科学院大学俄罗斯东欧中亚研究系乌兹别克斯坦中亚国际研究所

2022年是中国与乌兹别克斯坦建交30周年。30年来,中乌两国各领域的合作不断深化。政治上,两国已建立全面战略伙伴关系,在全球和区域组织的框架内保持密切合作;经济上,中国积极支持乌兹别克斯坦的经济发展,已成为乌第一大贸易伙伴和投资... 详细信息

2022年是中国与乌兹别克斯坦建交30周年。30年来,中乌两国各领域的合作不断深化。政治上,两国已建立全面战略伙伴关系,在全球和区域组织的框架内保持密切合作;经济上,中国积极支持乌兹别克斯坦的经济发展,已成为乌第一大贸易伙伴和投资来源国。乌兹别克斯坦作为中亚地区的重要国家,支持中国的“一带一路”倡议,在国际局势动荡和地缘政治风险加剧的背景下,中乌两国的全面合作对维护地区安全与稳定具有非常重要的意义。

关键词：中国乌兹别克斯坦友好合作

过氧化物酶生物发生障碍的温度敏感性表现型的分子学机制

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世界核心医学期刊文摘（儿科学分册） 2006年第1期2卷 57-57页

作者： Hashimoto k. kato Z. nagase T. 王经纬 Department of Pediatrics Gifu University School of Medicine Yanagido 1-1 Gifu 501-1194 Japan

Peroxisomal biogenesis disorders include Zellweger syndrome and milder phenoty pes, such as neonatal adrenoleukodystrophy (nALD). Our previous study of a nALD patient with a marked deterioration by a fever revealed a mutation (Ile326-Thr) within a sh3 domain of PEX13 protein (Pex13p), showing a temperature-sensitive (TS) phenotype in peroxisomal biogenesis. Clinical TS phenotypes also have been reported in several genetic diseases, but the molecular mechanisms still remain to be clarified. The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. Protease digestion of the recombinant Pex13p-sh3 domain showed an increase of p rotease susceptibility, suggesting a problem of mutant protein fold. Conformatio nal analyses against urea denaturation using urea gradient gel electrophoresis o r fluorescence emission from tryptophan residue revealed that themutant protein should be easily unfolded. Far-UV circular dichroism (CD) spectra demonstrated that both wild-type and the mutant protein have antiparallel beta-sheets as th eir secondary structure with slightly different extent. The thermal unfolding pr ofiles measured by CD showed a marked lower melting temperature for I326T protei n compared with that of wild-type protein. Analysis of the protein 3D-structur e indicated that the Ile326 should be a core residue for folding kinetics and th e substitution of Ile326 by threonine should directly alter the kinetic equilibr ium, suggesting a marked increase of the unfolded molecules when the patient had a high fever. Structural analyses of the protein in the other genetic diseases could provide an avenue for better understanding of genotype-phenotype correlat ions.

关键词：分子学机制过氧化物酶表现型生物发生温度敏感性脑-肝-肾综合征突变蛋白新生儿期 β折叠

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362例家族性先兆偏头痛患者的临床特点

世界核心医学期刊文摘（神经病学分册） 2005年第2期1卷 11-11页

作者： Eriksen M.k. Thomsen L.L. Andersen I. 黄卫东 University of Copenhagen Department of Neurology Glostrup University Hospital Nordre Ringvej 57 DK 2600 Glostrup Denmark Dr.

The objectives of the present study were to describe the clinical characterist ics of patients with severe familial non hemiplegic migraine with aura (nHMA) a nd to compare these data to those from cases in previous population based Danis h studies using the same methodology. nHMA families were recruited from the Dani sh patient registry and from Danish neurology practices. A total of 362 nHMA pat ients were diagnosed according to the 1988 International Headache Society criter ia using a validated semistructured physician conducted interview. Visual aura occurred in almost every nHMA attack. In aura without headache visual aura occur red primarily in isolation. Aura without headache was most common in older, male patients. Several clinical characteristics of familial nHMA differed from migra ine with aura in the general population: firstly, the age at onset was lower, se condly, the age at cessation was higher, thirdly, aura symptoms were more severe and finally, the cooccurrence of migraine without aura was higher in familial n HMA. There seems to be a correlation between more severe symptoms and familial a ggregation. These results have both clinical and scientific implications.

关键词：偏头痛患者先兆症状族性视觉先兆国际头痛协会家族聚集性就诊过程半固定式神经病学研究机构