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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在EFCAB7中,一种拼接变体阻碍了状运输,并扰乱了心脏发育

Xin Yang1, Qiuye Wang2, Tianyuan Li3

  • 1State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu, China; School of Public Health, Center for Global Health, Nanjing Medical University, Nanjing, Jiangsu, China; Department of Medical Genetics, Jiangsu Key Laboratory of Xenotransplantation, Nanjing Medical University, Nanjing, China.

The Journal of biological chemistry
|February 2, 2025
PubMed
概括

在EFCAB7基因中存在缺陷,这对初级乳毛功能至关重要,可以导致四重性失败 (TOF),这是一种先天性心脏缺陷. 这项研究确定了一种新的EFCAB7变体,导致小鼠的非功能蛋白和心脏发育异常.

关键词:
EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7 EFCAB7遗传性心脏缺陷是一种先天性心脏缺陷.主要的乳毛是主要的乳毛.拼接部位变异的拼接部位变异费洛特的四部曲.

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