三联疗法（Trikafta）——将其成功扩展至罕见突变情况
Trikafta-Extending Its Success to Less Common Mutations.
作者信息
Bentur Lea, Pollak Mordechai
机构信息
Pediatric Pulmonary Institute, Ruth Children's Hospital, Rambam Health Care Center, Haifa 31096, Israel.
Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel.
出版信息
J Pers Med. 2022 Sep 19;12(9):1528. doi: 10.3390/jpm12091528.
Abstract
Cystic Fibrosis (a genetic recessive disease) is caused by a mutant cystic fibrosis transmembrane conductance regulator (CFTR) gene that causes an absence of, or impaired CFTR activity [...].
摘要
囊性纤维化（一种常染色体隐性疾病）由突变的囊性纤维化跨膜传导调节因子（CFTR）基因引起，该基因导致CFTR活性缺失或受损[...]。
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1
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J Cyst Fibros. 2022 May;21(3):489-496. doi: 10.1016/j.jcf.2022.01.012. Epub 2022 Feb 2.
2
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J Pers Med. 2021 Apr 15;11(4):301. doi: 10.3390/jpm11040301.
3
A Phase 3 Open-Label Study of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 through 11 Years of Age with Cystic Fibrosis and at Least One Allele.
Am J Respir Crit Care Med. 2021 Jun 15;203(12):1522-1532. doi: 10.1164/rccm.202102-0509OC.
4
Elexacaftor-tezacaftor-ivacaftor: The new paradigm to treat people with cystic fibrosis with at least one p.Phe508del mutation.
Curr Opin Pharmacol. 2021 Apr;57:81-88. doi: 10.1016/j.coph.2021.01.001. Epub 2021 Feb 11.
5
Pharmacological approaches for targeting cystic fibrosis nonsense mutations.
Eur J Med Chem. 2020 Aug 15;200:112436. doi: 10.1016/j.ejmech.2020.112436. Epub 2020 May 21.
6
Cystic Fibrosis: Emergence of Highly Effective Targeted Therapeutics and Potential Clinical Implications.
Am J Respir Crit Care Med. 2020 May 15;201(10):1193-1208. doi: 10.1164/rccm.201910-1943SO.
7
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
N Engl J Med. 2019 Nov 7;381(19):1809-1819. doi: 10.1056/NEJMoa1908639. Epub 2019 Oct 31.
8
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.
Lancet. 2019 Nov 23;394(10212):1940-1948. doi: 10.1016/S0140-6736(19)32597-8. Epub 2019 Oct 31.
9
VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
N Engl J Med. 2018 Oct 25;379(17):1612-1620. doi: 10.1056/NEJMoa1807120. Epub 2018 Oct 18.
10
Theratyping in cystic fibrosis.
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