Peter van Mourik

28 Chapter 2 REFERENCES 1. Shteinberg, M. et al. Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His . ERJ Open Res. 3 , 00056–02016 (2017). 2. Wagener, J. S. et al. Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation. J. Cyst. Fibros. (2017) doi:10.1016/j.jcf.2017.10.003. 3. Massie, R. J. H. et al. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur. Respir. J. 17 , 1195–1200 (2001). 4. Rave-Harel, N. et al. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am. J. Hum. Genet. 60 , 87–94 (1997). 5. Chu, C. S., Trapnell, B. C., Curristin, S., Cutting, G. R. & Crystal, R. G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Genet. 3 , 151–156 (1993). 6. O’Sullivan, B. P., Zwerdling, R. G., Dorkin, H. L., Comeau, A. M. & Parad, R. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/ R117H-7T genotype. Pediatrics 118 , 1260–5 (2006). 7. FDA. FDA expands approved use of Kalydeco to treat additional mutations of cystic fibrosis. https://www.fda.gov/NewsEvents/Newsroom/ PressAnnouncements/ucm559212.htm (2017). 8. Moss, R. B. et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: A double-blind, randomised controlled trial. Lancet Respir. Med. 3 , 524–533 (2015). 9. Dekkers, J. F. et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat. Med. 19 , 939–45 (2013). 10. Dekkers, J. F. et al. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis. Sci. Transl. Med. 8 , 344ra84 (2016). 11. Boj, S. F. et al. Forskolin-induced Swelling in Intestinal Organoids: An <em>In Vitro</em> Assay for Assessing Drug Response in Cystic Fibrosis Patients. J. Vis. Exp. 1–12 (2017) doi:10.3791/55159. 12. Han, S. T. et al. Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. JCI insight 3 , (2018). 13. Waller, M. D. & Simmonds, N. J. Phenotypic variability of R117H-CFTR expression within monozygotic twins. Paediatr. Respir. Rev. 20 , 21–23 (2016). 14. De Nooijer, R. A. et al. Assessment of CFTR function in homozygous R117H-7T subjects. J. Cyst. Fibros. 10 , 326–332 (2011). 15. de Winter-de Groot, K. M. et al. Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function. Eur. Respir. J. 52 , 1702529 (2018). 16. Berkers, G. et al. Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis. Cell Rep. 26 , 1701-1708.e3 (2019).