Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects
复制标题
中国神经管缺陷人群CASP9突变基因筛查及功能分析
DOI：
10.1111/cns.12797
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发表时间：
2018-05-01
影响因子：
5.5
通讯作者：
Zhang, Ting
中科院分区：
文献类型：
--
作者：
Liu, Xiao-Zhen;Zhang, Qin;Zhang, Ting
神经管缺陷（NTD）是神经系统的出生缺陷，是全球出生缺陷的第二大常见原因。NTDs的病因复杂，涉及遗传和环境因素。CASP 9是内源性凋亡途径中的启动子半胱天冬酶，在Casp 9 −/−小鼠中，由于细胞凋亡减少而导致NTD。本研究的目的是评估CASP 9基因在人类NTDs中的潜在遗传贡献。
Neural tube defects (NTDs) are birth defects of the nervous system and are the second most frequent cause of birth defects worldwide. The etiology of NTDs is complicated and involves both genetic and environmental factors. CASP9 is an initiator caspase in the intrinsic apoptosis pathway, which in Casp9−/− mice has been shown to result in NTDs because of decreased apoptosis. The aim of this study was to evaluate the potential genetic contribution of the CASP9 gene in human NTDs.