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Genomic studies of cancer patients have revealed thousands of mutations linked to tumor development. However, for the vast majority of those mutations, researchers are unsure of how they contribute to...
Gene editing, or purposefully changing a gene’s DNA sequence, is a powerful tool for studying how mutations cause disease, and for making changes in an individual’s DNA for therapeutic purposes. A nov...
Portland State University researchers have found that only about half the genes in a specific virus affecting single cell organisms is needed to infect a host. This means the virus can undergo major m...
Protein pairs that control stimulus response in bacteria maintain a sensitive balance between interaction specificity and promiscuity, according to Rice University scientists.A computational model dev...
Leptin receptor (LEPR) gene is regarded as a “candidate-gene” of production traits. The aims of this study were to detect polymorphisms of exon 2 within LEPR gene and to investigate their associations...
The generation of site-directed mutants within the actin binding domain of the EGF receptor modulates receptor function in internalization and ligand binding. In addition, truncation of the EGFr at re...
The functional aspects of specific mutations, R30K, S291G, and I392T, found associated with AChE gene of OP- and carbamate-resistant Colorado potato beetle (CPB) were determined using recombinant AChE...
Oncology researchers studying gene mutations in the childhood cancer neuroblastoma are refining their diagnostic tools to predict which patients are more likely to respond to drugs called ALK inhibito...
Forced mutations doom HIV     Forced mutations doom  HIV       2014/8/14
Fifteen years ago, MIT professor John Essigmann and colleagues from the University of Washington had a novel idea for an HIV drug. They thought if they could induce the virus to mutate uncontrollably,...
The polymorphism of microphthalmia-associated transcription factor (MITF) and tyrosinase (TYR) genes have been proposed to play a vital role in coat colour genesis in mammals, but their role remains a...
Mutations create the genetic diversity on which selective pressures can act, yet also create structural instability in proteins. How, then, is it possible for organisms to ameliorate mutation-induced ...
北京师范大学分子生物学课件CHAPTER 6 Mutations, Mutagenesis and DNA Repair。
摘要 为研究同型半胱氨酸代谢相关酶亚甲基四氢叶酸还原酶(MTHFR)基因C677T和胱硫醚-β-合成酶(CBS)基因T833C位碱基突变与缺血性脑卒中的关系,对74例缺血性脑卒中患者和83例健康对照者, 采用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)技术检测MTHFR基因 C677T基因型, 用扩增阻滞突变体系法(ARMS)检测CBS基因T833C突变。实验检出患者组MTHFR基因T...
为了探讨不同肿瘤组织中线粒体基因体细胞性突变的胞质异质性和同质性状态,利用32对重叠引物对149例肿瘤组织和匹配的正常组织的全线粒体基因进行PCR扩增,并同时进行时相温度梯度凝胶电泳扫描突变筛选,基因测序确定突变类型与异质状况。结果表明,不同肿瘤组织中线粒体基因体细胞性突变的异质率不同,口腔癌(65%)和食道癌(64%)具有较高的异质率,其次为乳腺癌(45.9%)。4种转换形式的发生频率Hm→Hm...
摘要 为了探讨ROS水平与突变的关系,对原发性肝癌线粒体DNA区的突变情况进行研究,同时对原发性肝癌患者组织细胞内ROS进行测定。选择20例原发性肝癌组织及其邻近的癌旁组织,用PCR方法将线粒体DNA D-Loop扩增后测序。组织内ROS的水平采用流式细胞技术测定。结果表明在20对原发性肝癌组织中存在8对mtDNA突变,突变率为40%,共发现突变位点53个,包括2个插入,11个缺失...

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