Forskolin-induced swelling of intestinal organoids correlates with disease severity in adults with cystic fibrosis and homozygous F508del mutations

Sato, 2013, Growing Self-Organizing Mini-Guts from a Single Intestinal Stem Cell: Mechanism and Applications, Science, 340, 1190, 10.1126/science.1234852 Dekkers, 2013, A functional CFTR assay using primary cystic fibrosis intestinal organoids, Nat Med, 19, 939, 10.1038/nm.3201 Dekkers, 2016, Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis, Sci Transl Med, 8, 344ra388 Ratjen, 2003, Cystic fibrosis, Lancet, 361, 681, 10.1016/S0140-6736(03)12567-6 Boj, 2017, Forskolin-induced Swelling in Intestinal Organoids: An <em>In Vitro</em> Assay for Assessing Drug Response in Cystic Fibrosis Patients, J Vis Exp, 1 Kerem, 1990, The relation between genotype and phenotype in cystic fibrosis–analysis of the most common mutation (delta F508), N Engl J Med, 323, 1517, 10.1056/NEJM199011293232203 Sosnay, 2013, Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene, Nat Genet Oct, 45, 1160, 10.1038/ng.2745 McKone, 2003, Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study, Lancet, 361, 1671, 10.1016/S0140-6736(03)13368-5 Cutting, 2014, Cystic fibrosis genetics: from molecular understanding to clinical application, Nat Rev Genet, 16, 45, 10.1038/nrg3849 1993, Correlation between genotype and phenotype in patients with cystic fibrosis, N Engl J Med, 329, 1308 Mekus, 2000, Categories of ΔF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics, Twin Res, 3, 277, 10.1375/136905200320565256 Bronsveld, 2001, Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings, J Clin Invest, 108, 1705, 10.1172/JCI12108 Thomas, 1999, Pulmonary disease severity in men with ΔF508 cystic fibrosis and residual chloride secretion, Lancet, 353, 984, 10.1016/S0140-6736(98)05447-6 Kerem, 1990, The relation between genotype and phenotype in cystic fibrosis — analysis of the most common mutation (ΔF508), N Engl J Med, 323, 1517, 10.1056/NEJM199011293232203 van Meegen, 2013, Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis, PLoS One, 8, 10.1371/journal.pone.0057617 Ho, 1997, Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis, Eur Respir J, 10, 2018, 10.1183/09031936.97.10092018 Bronsveld, 2000, Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis, 119, 32 van Barneveld, 2010, Functional analysis of F508del CFTR in native human colon, Biochim Biophys Acta - Mol Basis Dis, 1802, 1062, 10.1016/j.bbadis.2010.08.001 Kälin, 1999, ΔF508 CFTR protein expression in tissues from patients with cystic fibrosis, J Clin Invest, 103, 1379, 10.1172/JCI5731 Mall, 2004, The ΔF508 mutation results in loss of CFTR function and mature protein in native human colon, Gastroenterology, 126, 32, 10.1053/j.gastro.2003.10.049 Hirtz, 2004, CFTR Cl - channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis, Gastroenterology, 127, 1085, 10.1053/j.gastro.2004.07.006 Vecchio-Pagán, 2016, Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits, Hum genome Var, 3, 16038, 10.1038/hgv.2016.38 de Winter-de Groot, 2018, Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as biomarker of CFTR function, Eur Respir J, 10.1183/13993003.02529-2017 Zomer-van Ommen, 2016, Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids, J Cyst Fibros, 15, 10.1016/j.jcf.2015.07.007 Treggiari, 2009, Early anti-pseudomonal acquisition in young patients with cystic fibrosis: rationale and design of the EPIC clinical trial and observational study, Contemp Clin Trials, 30, 256, 10.1016/j.cct.2009.01.003 Rosenow, 2015, PRAGMA-CF. A quantitative structural lung disease computed tomography outcome in young children with cystic fibrosis, Am J Respir Crit Care Med, 191, 1158, 10.1164/rccm.201501-0061OC Quanjer, 2012, Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations, Eur Respir J, 40, 1324, 10.1183/09031936.00080312 de Jong, 2011, Modified Chrispin-Norman chest radiography score for cystic fibrosis: observer agreement and correlation with lung function, Eur Radiol, 21, 722, 10.1007/s00330-010-1972-7 Foulke-Abel, 2016, Human enteroids as a model of upper small intestinal ion transport physiology and pathophysiology, Gastroenterology, 150, 10.1053/j.gastro.2015.11.047 Beekman, 2016, Individualized medicine using intestinal responses to CFTR potentiators and correctors, Pediatr Pulmonol, 51, S23, 10.1002/ppul.23553 Collaco, 2016, Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis, Am J Respir Crit Care Med, 194, 1375, 10.1164/rccm.201603-0459OC Boyle, 2014, A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial, Lancet Respir Med, 2, 527, 10.1016/S2213-2600(14)70132-8 Vanscoy, 2007, Heritability of lung disease severity in cystic fibrosis, Am J Respir Crit Care Med, 175, 1036, 10.1164/rccm.200608-1164OC Bradley, 2012, Genetic modifiers of nutritional status in cystic fibrosis, Am J Clin Nutr, 96, 1299, 10.3945/ajcn.112.043406 Stanke, 2011, Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia, J Med Genet, 48, 24, 10.1136/jmg.2010.080937