Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.
暂无分享,去创建一个
R. Vries | S. Boj | J. R. Doyle | J. Beekman | C. K. van der Ent | P. Audhya | H. Heijerman | R. van der Meer | N. Kinnman | G. Berkers | P. van Mourik | Zheng (Jason) Yuan | J. Doyle
[1] G. Koppelman,et al. Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis. , 2019, Cell reports.
[2] S. Stanojevic,et al. Efficacy and safety of lumacaftor and ivacaftor in patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial. , 2017, The Lancet. Respiratory medicine.
[3] G. Sawicki,et al. Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline. , 2017, American journal of respiratory and critical care medicine.
[4] H. Clevers,et al. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis , 2016, Science Translational Medicine.
[5] H. Janssens,et al. Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids , 2016, European Respiratory Journal.
[6] Xiaohong Huang,et al. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. , 2015, The New England journal of medicine.
[7] L. Cebotaru,et al. Correcting the Cystic Fibrosis Disease Mutant, A455E CFTR , 2014, PloS one.
[8] Hans Clevers,et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids , 2013, Nature Medicine.
[9] P. Flume,et al. State of progress in treating cystic fibrosis respiratory disease , 2012, BMC Medicine.
[10] S. Stanojevic,et al. Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations , 2012, European Respiratory Journal.
[11] P. Negulescu,et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809 , 2011, Proceedings of the National Academy of Sciences.
[12] J. Kreindler. Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies. , 2010, Pharmacology & therapeutics.
[13] P. Negulescu,et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 , 2009, Proceedings of the National Academy of Sciences.
[14] James Rader,et al. Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. , 2006, American journal of physiology. Lung cellular and molecular physiology.
[15] S. Emerson,et al. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study , 2003, The Lancet.
[16] H. Scheffer,et al. Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country , 1998, Human Genetics.
[17] M. Braekeleer,et al. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation , 1997, Human Genetics.
[18] A. V. D. van den Ouweland,et al. A cystic fibrosis mutation associated with mild lung disease. , 1995, The New England journal of medicine.
[19] M. Welsh,et al. Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. , 1995, The EMBO journal.
[20] F. van Goor,et al. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. , 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.