Peter van Mourik
154 Chapter 7 REFERENCES 1. Barker, N. et al. Identification of stem cells in small intestine and colon by marker gene Lgr5. Nature 449 , 1003–1007 (2007). 2. Sato, T. et al. Single Lgr5 stem cells build crypt – villus structures in vitro without a mesenchymal niche. Nature 459 , 262–265 (2009). 3. van de Wetering, M. et al. Prospective Derivation of a Living Organoid Biobank of Colorectal Cancer Patients. Cell 161 , 933–945 (2015). 4. Riordan, J. R. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 , 1066–73 (1989). 5. Sosnay, P. R. et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat. Genet. 45 , 1160–7 (2013). 6. Cutting, G. R. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat. Rev. Genet. 16 , 45–56 (2014). 7. Dekkers, J. F. et al. Potentiator synergy in rectal organoids carrying S1251N, G551D, or F508del CFTR mutations. J. Cyst. Fibros. (2016) doi:10.1016/j. jcf.2016.04.007. 8. Ramsey, B. W. et al. A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation. N. Engl. J. Med. 365 , 1663–1672 (2011). 9. De Boeck, K. et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J. Cyst. Fibros. 13 , 674–680 (2014). 10. Wainwright, C. E. et al. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. N. Engl. J. Med. 1–12 (2015) doi:10.1056/ NEJMoa1409547. 11. 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). 12. Rowe, S. M. et al. Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis. N. Engl. J. Med. NEJMoa1709847 (2017) doi:10.1056/ NEJMoa1709847. 13. Taylor-Cousar, J. L. et al. Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del. N. Engl. J. Med. NEJMoa1709846 (2017) doi:10.1056/NEJMoa1709846. 14. Ratner, M. FDA deems in vitro data on mutations sufficient to expand cystic fibrosis drug label. Nat. Biotechnol. 35 , 606 (2017). 15. Dekkers, J. F. et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat. Med. 19 , 939–45 (2013). 16. 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). 17. Zomer-van Ommen, D. D. et al. Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids. J. Cyst. Fibros. 15 , 158–62 (2016).
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