Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.

[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.