Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.

Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.
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中国人群先天性心脏病 HECA 变异的功能分析

DOI:
10.1002/jcla.24649
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发表时间:
2022-09
影响因子:
2.7
通讯作者:
Huang, Guo-Ying
Huang, Guo-Ying
中科院分区:
医学4区
文献类型:
--
作者:
Li, Ting;Wu, Yao;Chen, Wei-Cheng;Xue, Xing;Suo, Mei-Jiao;Li, Ping;Sheng, Wei;Huang, Guo-Ying

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先天性心脏病(CHD)是一类心血管缺陷,包括间隔缺损、流出道异常和瓣膜缺损。果蝇头壳的人类同源物(HECA)是一种新的细胞周期调节因子,其在冠心病中的作用尚未阐明。这是第一项确定CHD患者中HECA突变频率以及HECA变体与CHD之间关联的研究。
Congenital heart disease (CHD) is a class of cardiovascular defects that includes septal defects, outflow tract abnormalities, and valve defects. Human homolog of Drosophila headcase (HECA) is a novel cell cycle regulator whose role in CHD has not been elucidated. This is the first study to determine the frequency of HECA mutations in patients with CHD and the association between HECA variants and CHD.
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