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Diabetes is a genetically heterogeneous disease. Therefore, according to its pathophysiological and clinical characteristics, it can be divided into four types: type 1, type 2, other special types and gestational diabetes, which can be also classified ...
Liu, Li-mei
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反义核酸真核表达载体的构建及其对重组HeLa细胞H654中IVS-2-654C→T突变β-珠蛋白基因剪接缺陷的抑制作用 [PDF]
, 1998 Lan Gong +4 more
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Zhongshan Daxue xuebao. Yixue kexue ban, 2013 【目的】 研究中国人Ｐｅｔｅｒｓ’异常患者Ｓｏｘ１１及ＣＹＰ１Ｂ１基因变异情况。【方法】 从眼遗传疾病库中选取１３例Ｐｅｔｅｒｓ’异常的先证者以及１００例正常对照，采用直接测序的方法分析Ｓｏｘ１１及ＣＹＰ１Ｂ１基因的外显子及其相邻内含子基因变异情况；通过测序识别的基因突变，使用ＨＡ－ＳＳＣＰ分析的方法，在１００例正常对照中做进一步评估。筛查中国人群Ｐｅｔｅｒｓ’异常患者Ｓｏｘ１１及ＣＹＰ１Ｂ１基因基因变异，并研究其相关表型。【结果】 在１３例Ｐｅｔｅｒｓ’异常的患者中检测到一个Ｓｏｘ１１同义突变 ...
doaj
The Impact of Smoking Status on the Efficacy of Erlotinib in Patients with Advanced Non-small Cell Lung Cancer [PDF]
, 2009 Background and objective Erlotinib is a targeted treatment for advanced non-small cell lung cancer. Smoking status may be one of influencing factors of the efficacy of erlotinib.
Jinji YANG +5 more
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FBW7α inhibits the proliferation of CCA cells by decreasing the protein expression of c-myc and cyclinE [PDF]
, 2016 胆管癌（Cholangiocarcinoma，CCA）是仅次于肝细胞癌的第二大肝脏常见恶性肿瘤，预后差，胆管癌患者的五年生存率仅为5%，而且，近年来其发病率和死亡率呈逐年上升趋势，但是目前对胆管癌发生发展机制的研究还不够深入。 FBW7α（F-boxandWDrepeatdomain-containing7）是一种E3泛素连接酶，可以通过介导底物蛋白的泛素化降解而调控细胞增殖、分化、凋亡、基因组稳定性等细胞进程。FBW7α是一种肿瘤抑制蛋白，在很多肿瘤中发现FBW7的表达减少或者功能缺失，其中 ...
向丹
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Zhongshan Daxue xuebao. Yixue kexue ban, 2017 【目的】探讨二代测序技术结合Sanger测序验证法在一原发性部分性绒毛膜羊膜病理性分离家系致病基因检测的作用，探索临床罕见胎儿疾病的产前诊断思路与方法。【方法】采用全基因外显子高通量测序方法，在ZMPSTE24基因中发现两个致病突变，随后对先证者及其父母的致病位点进行Sanger测序验证，明确致病位点后，对第3次妊娠胎儿行绒毛取样术实施产前诊断，分析致病位点。【结果】检测到先证者在ZMPSTE24基因第10个外显子上发生了框移突变（c.1389至 c.1390缺失AG，来源于母亲 ...
麦明琴 +3 more
doaj
A Clinical Observation of Concomitant Therapy of Erlotinib and Whole Brain Radiotherapy in Patients of NSCLC Combined with Brain Metastases [PDF]
, 2009 Background and objective Treatments to brain metastases in patients of NSCLC include operation, chemotherapy and radiotherapy, while the disease control rate of brain lesions is not so good, the media survival time is 4-6 months.
Jing ZHAO, Lihong ZHANG, Qiang FU
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