搜索结果: 1-10 共查到“医学遗传学 disease”相关记录10条 . 查询时间(0.14 秒)
山东大学医学院医学遗传学课件（五年制） molecular disease。
2017帕金森氏病戈登学术会议（The 2017 Gordon Research Conference on Parkinson’s Disease）
Parkinson’s Disease therapeutics
2017/1/18
The Gordon Research Conference on Parkinson's disease is a unique meeting within the field that brings together scientists across myriad disciplines and from varied backgrounds and positions around th...
2017表观遗传学和人类疾病 Keystone Symposia（2017 Keystone Symposia on Epigenetics and Human Disease）
Epigenetics Human Disease
2017/1/17
The meeting will begin on Sunday, January 29 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Thursday, February 2 with a closing plenary se...
2017mRNA加工和人类疾病 Keystone Symposia（2017 Keystone Symposia on mRNA Processing and Human Disease）
mRNA Processing Human Disease
2017/1/17
The meeting will begin on Sunday, March 5 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, March 8 with a closing plenary session...
The Association between Sporadic Alzheimer’s Disease and the Human ABCA1 and APOE Gene Polymorphisms in Iranian Population
Alzheimer’s disease Genetic association Apolipoprotein E Polymorphism ATP-binding cassette transporter A1 Iran
2015/9/23
Background: Apolipoprotein E (APOE), which its ε4 allele has been reported as a risk factor in late onset Alzheimer’s disease (AD), is the main cholesterol carrier in the brain. ATP-binding cassette t...
Genetic signature in TB patients sheds light on disease
Genetic signature TB patients disease
2010/8/26
Medical Research Council (MRC) scientists have uncovered a ‘genetic signature’ in the blood of patients with active tuberculosis (TB). This discovery could not only serve as the basis of future diagno...
Brain disease “resistance gene” could offer insights into CJD（图）
Brain disease resistance gene Kuru
2009/11/24
A community in Papua New Guinea that suffered a major epidemic of a CJD-like fatal brain disease called kuru has developed strong genetic resistance to the disease, according to new research by (MRC) ...
组织蛋白酶D基因C224T多态与散发阿尔茨海默氏病的关联研究The C224T Polymorphism in the Cathepsin D Gene is not Associated with Sporadic Alzheimer’s Disease in Chinese
阿尔兹海默氏病 组织蛋白酶基因 多态性 限制性片段长度
2008/1/10
摘要
组织蛋白酶D（Cathepsin D）是一种细胞核内体/溶酶体内的门冬酰胺蛋白酶。它有可能通过剪切淀粉样前体蛋白参与阿尔茨海默氏病（Alzheimer’s disease, AD）相关的神经退化。在以德国人为对象中的研究显示组织蛋白酶D基因（CTSD）C224T多态与AD发病风险紧密相关。然而，此结果未能在另一些群体中得到重复。为此，我们通过聚合酶链反应-限制性片段长度多态性方法分析了C...
Graves病患者TNFβ基因微卫星多态性分析Analysis of TNFβ Gene Microsatellite Polymorphism in Graves Disease
淋巴毒素 微卫星多态性 格雷夫斯病
2007/12/7
摘要为研究Graves病患者（简称GD）TNF（tumor necrosis factor）β基因内含子1的微卫星多态性（TNFc）,应用聚合酶链反应（PCR）技术和聚丙烯酰胺凝胶电泳分析Graves病实验组和正常对照组的基因频率和基因型频率。结果可见，TNFc微卫星多态性含有两个等位基因及3种基因型，Graves病实验组的TNFc2基因频率高于正常对照组，有显著性差异 （χ2=4.02，P＜0....
MJD基因CAG不稳定性扩增与临床研究Gene Mutation and Clinical Analysis in Machado-Joseph Disease
Machado-Joseph病 基因突变 临床电生理
2007/12/7
摘要为了解Machado-Joseph病(MJD)基因突变及临床的神经电生理特点, 对16个诊断为遗传性小脑性共济失调(SCA)家系的45例病人及30例家系的“正常”人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度(MCV及SCV)、脑干诱发电位(BAEP)，视觉诱发电位(VEP)的检查。结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变，CAG三核苷酸重复...