提炼
囊性纤维化(CF)是欧洲血统中最常见的致命遗传疾病之一,是由功能丧失突变引起的CFTR(囊性纤维化跨膜电导调节剂)编码上皮离子通道CFTR的基因,该基因CFTR,该基因在细胞膜上介导氯化物和碳酸氢盐转运[1]。CF患者患有多器官功能障碍,但死亡率和发病率主要由进行性呼吸障碍引起。突破发现后30年CFTRgene, we are now witnessing the success of precision medicine in CF clinics prescribing small-molecule compounds targeting the CFTR protein [2]. These CFTR modulators have brought transformative effects on the health and well-being of CF patients and their families.
抽象的
F508del-CFTR, the most common disease-associated mutation in cystic fibrosis, may lose its responsiveness to the CFTR potentiator ivacaftor upon prolonged exposure to the newly developed CF drug Trikaftahttps://bit.ly/3A22MKQ
Footnotes
利益冲突:设定h。叶一直支持by a research grant (#109-2320-B-010-049-MY2) from the Ministry of Science and Technology, Taiwan, to T-C. Hwang, who is also supported partly by the Cystic Fibrosis Foundation (Hwang19G0). T-C. Hwang is serving as a consultant for Nanova Inc.; through the University of Missouri, he has a service agreement with AbbVie Inc.
支持声明:这项工作得到了囊性纤维化基金会治疗学(赠款:HWANG19G0)和台湾科学技术部(授予:109-2320-B-010-049-MY2)的支持。本文的资金信息已存入CrossRef资助人注册表。
- Received2021年9月1日。
- 公认September 4, 2021.
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