Results 131 to 140 of about 16,526 (215)
[Clinical characteristics and gene mutation analysis of two families with hereditary protein C deficiency]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2023 Zeng ML +6 more
europepmc +1 more source
Detection of PIK3CA Mutations with Probe Melting Curve Analysis Technology [PDF]
, 2012 磷脂酰肌醇3-激酶(Phosphatidylinositol3-Kinase，PI3K)是细胞信号通路中一大类脂激酶家族，PI3K/AKT信号通路的活化在很多类型的肿瘤中都会导致异常的细胞增生。PIK3CA基因编码ⅠA类PI3K催化亚基p110α，研究发现它在多种人类肿瘤中发生功能性突变，导致PI3K激酶活性增加，进而导致整个信号通路活化，因此PIK3CA基因突变被认为在肿瘤治疗中有预测预后功能，并可以作为药物开发的靶点。随着越来越多PI3K信号通路靶向抑制剂的开发 ...
刘歆
core
[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations]. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2023 Zhao X +6 more
europepmc +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 1996 采用ＰＣＲ－ＳＳＣＰ方法，研究了９例人原发性乳腺癌和２０例肺癌中ＢＲＣＡ１基因外显子２及外显子２１区域上的突变情况。结果显示：３例乳腺癌存在突变（３／９），其中１例发生于外显子２，２例发生在外显子２１上；１例肺癌在外显子２上发生突变（１／２０，５％），该结果表明ＢＲＣＡ１基因突变与乳腺癌关系密切，同时该结果首次发现ＢＲＣＡ１基因突变可能与肺癌发生有关，但所有这些结果尚需进一步的序列分析证实。
doaj
[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases]. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2022 Zhang N +4 more
europepmc +1 more source
枯草杆菌(<I>Bacillus subtilis</I>)<I>pur</I>操纵子调控区内PurBox1突变对细胞内受腺嘌呤调节的基因表达的影响 [PDF]
, 2004 openalex +1 more source