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Characterization of {\it midline uncoordinated\/}, a mutation affecting behavior and neuroanatomy in Drosophila
Genetics gene gene elements neurons
2014/12/11
Genetic screens which assay behavior have been successfully used to identify genes required for neural function. This thesis is the analysis of midline uncoordinated (muc), a mutation identified for i...
University of Texas (UT) at Arlington researchers, working in parallel with researchers at the University of Utah, examined three genes that control multiple color phenotypes, or appearances, in pige...
The statistical mechanics of a polygenic characterunder stabilizing selection, mutation and drift
statistical mechanics polygenic characterunder stabilizing selection mutation drift
2010/11/15
By exploiting an analogy between population genetics and statistical mechanics, we study the evolution of a polygenic trait under stabilizing selection, mutation, and genetic drift. This requires us ...
中国人扩张型心肌病与受磷蛋白基因关系的研究 Association between Mutation of Phospholamban Gene and Dilated Cardiomyopathy
扩张型心肌病 受磷蛋白基因 突变
2008/1/8
摘要
受磷蛋白（phospholamban）是心肌收缩的一个重要调节因子，可抑制心肌肌浆网钙ATPase的活性、降低其对钙的亲和力。正常情况下，受磷蛋白可被不同的蛋白激酶磷酸化从而解除其肌浆网钙ATPase的抑制作用。国外两个DCM家系研究发现受磷蛋白基因突变与DCM的发生有关，研究目的旨在探讨中国人群心肌特异性受磷蛋白基因突变与特发性扩张型心肌病发病的关系。收集60例确诊的特发性扩张型心肌病...
人线粒体tRNALeu(UUR)基因A3243G点突变对其亮氨酰化活性的影响Effects of A3243G Point Mutation on Aminoacylation of Human Mitochondrial tRNALeu(UUR)
人线粒体tRNALeu(UUR) A3243G点突变 氨酰化 体外转录 人线粒体亮氨酰tRNA结合酶
2007/12/30
摘要化学法合成人线粒体野生型与A3243G点突变型tRNALeu(UUR)基因,体外转录生成相应的tRNALeu(UUR),表达并纯化人线粒体亮氨酰tRNA合成酶(mtLeuRS),用mtLeuRS催化野生型与突变型tRNALeu(UUR)与亮氨酸结合，分别检测两种类型tRNALeu(UUR)的氨酰化动力学常数。结果表明，野生型tRNALeu(UUR)的Km/Kcat仅为突变型tRNALeu(UU...
胃癌中APC基因I1307K突变及蛋白质表达The I1307K Mutation and Protein Expression of APC Gene in Gastric Cancer
APC基因 I1307K突变 蛋白质 胃癌
2007/12/30
摘要为探讨肿瘤抑制基因APC结构及表达异常与胃癌发生、发展的关系,采用ARMS PCR检测胃癌中APC基因I1307K突变存在与否，免疫组织化学方法分析胃癌中APC蛋白表达水平。结果表明，在 62例胃癌高发区易感人群血液标本及45例胃癌中未检测到I1307K突变；胃癌（早期、进展期）中APC蛋白表达阳性率显著低于正常黏膜，进展期胃癌中APC蛋白表达阳性率显著低于早期胃癌，淋巴结转移阳性的胃癌中AP...
阿尔茨海默病中β淀粉样前体蛋白基因外显子9、10的mRNA表达及突变研究--Expression Variation and Mutation Analysis of Exon 9 and 10 in Amyloid Precursor Protein Gene in Alzheimer′s Disease
阿尔茨海默病 β淀粉样前体蛋白基因 表达 突变
2007/12/5
于上海地区汉人群中，探讨阿尔茨海默病(AD)患者外周血中β淀粉样前体蛋白基因外显子9、10（APP9~10）的mRNA表达水平，并作cDNA的点突变检测。采用半定量竞争性反转录聚合酶链反应(semi-quantitive competitive RT-PCR)技术测定APP9~10的mRNA表达水平；以聚合酶链反应（PCR）-限制性片段长度多态(RFLP)方法检测基因组DNA中载脂蛋白E基因(AP...
专著信息
书名
“UT-B mutants are predisposed to progressive familial heart block type I in a Chinese family: A novel genetic finding in UT-B mutation associated diseases in humans”,
语种
英文
撰写或编译
作者
赵雪俭,杨宝学,孟艳...