Novel mutation of the cyclin-dependent kinase 4 gene in a Chinese patient with intimal sarcoma of th

来源 :中华医学杂志(英文版) | 被引量 : 0次 | 上传用户:liongliong492
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
The long arm of human chromosome 12 contains a region that has been found to be amplified in a number of different tumors, including osteosarcomas and soft tissue sarcomas,1 There are more than 5 genes located in this area such as CDK2, CDK4, WNT1, MDM2 and WNTIOb.1 CDK4 gene consists of eight exons, of which the start codon is located in the beginning of exon 2 and the stop codon in the beginning of exon 8. CDK4 is a member of the Ser-Thr protein kinase family and its catalytic domain extends from amino acid 6 to 295. CDK4 is expressed in a variety of normal cells and tissues as well as in cancer cells. CDK4 constitutes the catalytic subunit of a heterodimeric Ser/Thr protein kinase that is involved in controlling progression through the G1 phase of the cell cycle. Germ-line mutations in the CDK4 gene have so far only been found in families with inherited malignant melanoma and multiple atypical nevi. The mutations affect the Arg encoded by codon 24, changing it either to Cys or to His.
其他文献
目的研究奥扎格雷钠注射液治疗缺血性脑血管疾病的疗效及其对血液流变学的影响。方法选择缺血性脑血管疾病患者120例,随机分为治疗组62例及对照组58例。治疗组用奥扎格雷钠16
期刊
目的帮助临床医生了解抗生素的药物不良反应,促进临床合理使用抗生素药物,保证患者用药安全、有效、合理。方法复习文献资料,从过敏反应、毒性反应、特异性反应、二重感染、
目的探讨剪切波组织定量技术在肝肿瘤诊断中的应用价值及主要影响因素。方法应用超声对129例肝肿瘤患者的129个肝内肿瘤进行检查并比较肝肿块弹性值及弹性比值对肝肿瘤良恶性的诊断价值。结果肝恶性肿瘤弹性值及弹性比值均高于良性肿瘤(P<0.05)。以弹性值>1.40 m/s诊断肝恶性肿瘤,ROC曲线下面积为0.78;以弹性比值>1.05诊断肝恶性肿瘤,ROC曲线下面积为0.63。不同大小、肝左右叶不同位置
一、成像系统的定标与认证rn1.多光谱热成像仪原始性能的鉴定(特邀论文,P.G.Weber,美国圣地亚国立实验室)
期刊
目的 对前交叉韧带(ACL)损伤膝关节侧副韧带长度变化进行运动还原在体稳定性研究.方法 2008年1月至6月收治8例单侧膝关节ACL断裂而对侧膝关节止常的患者,男6例,女2例;平均年龄25.3岁;在生理负重膝关节屈曲0°、15°、30°、60°和90°时采集相互垂直的二维(2D)图像,与三维CT(3D)图像在虚拟X线投射系统进行2D/3D图像配准,还原膝关节不同角度时股骨和胫骨的相对三维位置关系,