Making precision medicine personal for cystic fibrosis.
作者信息
Manfredi Candela, Tindall Janice M, Hong Jeong S, Sorscher Eric J
机构信息
Emory University School of Medicine, Atlanta, GA, USA.
University of Alabama at Birmingham, Birmingham, AL USA.
出版信息
Science. 2019 Jul 19;365(6450):220-221. doi: 10.1126/science.aaw0553.
Abstract
摘要
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本文引用的文献
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Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.直肠类器官可实现囊性纤维化的个体化治疗。
Cell Rep. 2019 Feb 12;26(7):1701-1708.e3. doi: 10.1016/j.celrep.2019.01.068.
2
VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.VX-445-泰泽卡托维瓦卡托联合治疗伴有一个或两个 Phe508del 等位基因的囊性纤维化患者。
N Engl J Med. 2018 Oct 25;379(17):1612-1620. doi: 10.1056/NEJMoa1807120. Epub 2018 Oct 18.
3
Considerations for Developing Targeted Therapies in Low-Frequency Molecular Subsets of a Disease.考虑在疾病的低频分子亚群中开发靶向治疗方法。
Clin Pharmacol Ther. 2018 Aug;104(2):282-289. doi: 10.1002/cpt.1041. Epub 2018 Feb 23.
4
Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.用于囊性纤维化残余功能杂合子的泰扎卡托-依伐卡托
N Engl J Med. 2017 Nov 23;377(21):2024-2035. doi: 10.1056/NEJMoa1709847. Epub 2017 Nov 3.
5
The U.S. Food and Drug Administration's Experience with Ivacaftor in Cystic Fibrosis. Establishing Efficacy Using In Vitro Data in Lieu of a Clinical Trial.美国食品和药物管理局在囊性纤维化中使用 Ivacaftor 的经验。使用体外数据代替临床试验建立疗效。
Ann Am Thorac Soc. 2018 Jan;15(1):1-2. doi: 10.1513/AnnalsATS.201708-668PS.
6
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.从囊性纤维化跨膜传导调节因子生物学走向联合药物治疗：囊性纤维化突变的扩展分类
Mol Biol Cell. 2016 Feb 1;27(3):424-33. doi: 10.1091/mbc.E14-04-0935.
7
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.VX-770 治疗囊性纤维化患者与 G551D-CFTR 突变。
N Engl J Med. 2010 Nov 18;363(21):1991-2003. doi: 10.1056/NEJMoa0909825.
8
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.NAGNAG 受体位点的选择性剪接作为一种新的表型修饰物。
PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153.
9
Cystic fibrosis.囊性纤维化
N Engl J Med. 2005 May 12;352(19):1992-2001. doi: 10.1056/NEJMra043184.
10
C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.C末端截短会使囊性纤维化跨膜传导调节因子不稳定，但不影响其生物合成。一类新的突变。
J Biol Chem. 1999 Jul 30;274(31):21873-7. doi: 10.1074/jbc.274.31.21873.
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