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遗传性红细胞酶缺陷性疾病的研究进展 被引量:1
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作者 张勇 黄前川 《医学综述》 2010年第17期2587-2589,共3页
遗传性红细胞酶缺陷性疾病的研究表明,葡萄糖-6-磷酸脱氢酶缺陷使红细胞膜上带3蛋白寡聚化而诱发溶血,并能激活补体产生抗疟效应;丙酮酸激酶蛋白晶体构象A区疏水核心的突变引起酶活力显著降低和严重溶血;嘧啶5′-核苷酸酶突变位点与溶... 遗传性红细胞酶缺陷性疾病的研究表明,葡萄糖-6-磷酸脱氢酶缺陷使红细胞膜上带3蛋白寡聚化而诱发溶血,并能激活补体产生抗疟效应;丙酮酸激酶蛋白晶体构象A区疏水核心的突变引起酶活力显著降低和严重溶血;嘧啶5′-核苷酸酶突变位点与溶血程度无关,但对酶的活性和热稳定性有不同程度的影响;位于甲脂蛋白或还原型辅酶Ⅱ结合区的细胞色素b5还原酶突变会造成神经系统发育和功能的严重障碍。此外,红细胞酶的非酶功能参与细胞凋亡及癌基因表达的调控。 展开更多
关键词 葡萄糖-6-磷酸脱氢酶缺乏症 丙酮酸激酶突变 5 核苷酸酶突变 细胞色素还原酶突变
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Mutation and polymorphism in the tyrosine kinase domain of KDR in Chinese human lung cancer patients
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作者 Shejuan An Zhihong Chen Jian Su Jiaying Lin Ying Huang Hongyan Tang Yilong Wu 《The Chinese-German Journal of Clinical Oncology》 CAS 2009年第6期309-313,共5页
Objective: Although the kinase insert domain-containing receptor (KDR) gene play an very important role in the metastasis of cancer and is also as one of the molecular targets used in cancer therapy, mutation in th... Objective: Although the kinase insert domain-containing receptor (KDR) gene play an very important role in the metastasis of cancer and is also as one of the molecular targets used in cancer therapy, mutation in the tyrosine kinase (TK) domain of the KDR gene has not been reported. Here we detected the mutations and polymorphisms in the TK domain of KDR gene in human lung cancer patients and to give the basic evidence and clue for cancer prevention and target therapy. Methods: The entire sequence of exons 21, 22, 23 and 27 (which contain the coding sequence of tyrosine phosphorylation) in the TK domain of KDR gene in the patients with lung cancer and control healthy individuals were assayed by PCR and DNA sequencing. We also analyzed one non-coding single nucleotide polymorphisms (SNPs) in the KDR gene. Results: No mutations were found in exon 22, 23 and 27. One heterozygous mutation of c.+2837 in exon 21 was found at a frequency of 2.08% (2/96) in the patients with lung cancer and none were detected in the healthy control individuals. The mutation was from a G to a A resulting in substitution of arginine with histidine residue. Conclusion: Our data suggested that we should focus on the mutation or SNP in the other regions or the expression levels of KDR gene, and the function of c.+2837 mutation of KDR .qene may be needed further study in the future. 展开更多
关键词 lung cancer MUTATION kinase insert domain-containing receptor (KDR) POLYMORPHISM
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