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Rescue of multiple class II CFTR mutations by elexacaftor+tezacaftor+ivacaftor mediated in part by the dual activities of elexacaftor as both corrector and potentiator
Laselva, Onofrio, Bartlett, Claire, Gunawardena, Tarini N.A., Ouyang, Hong, Eckford, Paul D.W., Moraes, Theo J., Bear, Christine E., Gonska, Tanja
Published in The European respiratory journal (01.06.2021)
Published in The European respiratory journal (01.06.2021)
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis
Dekkers, Johanna F, Berkers, Gitte, Kruisselbrink, Evelien, Vonk, Annelotte, de Jonge, Hugo R, Janssens, Hettie M, Bronsveld, Inez, van de Graaf, Eduard A, Nieuwenhuis, Edward E S, Houwen, Roderick H J, Vleggaar, Frank P, Escher, Johanna C, de Rijke, Yolanda B, Majoor, Christof J, Heijerman, Harry G M, de Winter-de Groot, Karin M, Clevers, Hans, van der Ent, Cornelis K, Beekman, Jeffrey M
Published in Science translational medicine (22.06.2016)
Published in Science translational medicine (22.06.2016)
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Treatment of cystic fibrosis airway cells with CFTR modulators reverses aberrant mucus properties via hydration
Morrison, Cameron B., Shaffer, Kendall M., Araba, Kenza C., Markovetz, Matthew R., Wykoff, Jason A., Quinney, Nancy L., Hao, Shuyu, Delion, Martial F., Flen, Alexis L., Morton, Lisa C., Liao, Jimmy, Hill, David B., Drumm, Mitchell L., O'Neal, Wanda K., Kesimer, Mehmet, Gentzsch, Martina, Ehre, Camille
Published in The European respiratory journal (01.02.2022)
Published in The European respiratory journal (01.02.2022)
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Inhaled mRNA therapy for treatment of cystic fibrosis: Interim results of a randomized, double‐blind, placebo‐controlled phase 1/2 clinical study
Rowe, S.M., Zuckerman, J.B., Dorgan, D., Lascano, J., McCoy, K., Jain, M., Schechter, M.S., Lommatzsch, S., Indihar, V., Lechtzin, N., McBennett, K., Callison, C., Brown, C., Liou, T.G., MacDonald, K.D., Nasr, S.Z., Bodie, S., Vaughn, M., Meltzer, E.B., Barbier, A.J.
Published in Journal of cystic fibrosis (01.07.2023)
Published in Journal of cystic fibrosis (01.07.2023)
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Cystic fibrosis in Europe: improved lung function and longevity – reasons for cautious optimism, but challenges remain
Kerem, Eitan, Orenti, Annalisa, Adamoli, Arianna, Hatziagorou, Elpis, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle
Published in The European respiratory journal (01.03.2024)
Published in The European respiratory journal (01.03.2024)
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Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis
Cuyx, Senne, Ramalho, Anabela Santo, Corthout, Nikky, Fieuws, Steffen, Fürstová, Eva, Arnauts, Kaline, Ferrante, Marc, Verfaillie, Catherine, Munck, Sebastian, Boon, Mieke, Proesmans, Marijke, Dupont, Lieven, De Boeck, Kris, Vermeulen, François
Published in Thorax (01.11.2021)
Published in Thorax (01.11.2021)
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A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Ramsey, Bonnie W, Davies, Jane, McElvaney, N. Gerard, Tullis, Elizabeth, Bell, Scott C, Dřevínek, Pavel, Griese, Matthias, McKone, Edward F, Wainwright, Claire E, Konstan, Michael W, Moss, Richard, Ratjen, Felix, Sermet-Gaudelus, Isabelle, Rowe, Steven M, Dong, Qunming, Rodriguez, Sally, Yen, Karl, Ordoñez, Claudia, Elborn, J. Stuart
Published in The New England journal of medicine (03.11.2011)
Published in The New England journal of medicine (03.11.2011)
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A restructuring of microbiome niche space is associated with Elexacaftor-Tezacaftor-Ivacaftor therapy in the cystic fibrosis lung
Sosinski, Lo M., H, Christian Martin, Neugebauer, Kerri A., Ghuneim, Lydia-Ann J., Guzior, Douglas V., Castillo-Bahena, Alicia, Mielke, Jenna, Thomas, Ryan, McClelland, Marc, Conrad, Doug, Quinn, Robert A.
Published in Journal of cystic fibrosis (01.11.2022)
Published in Journal of cystic fibrosis (01.11.2022)
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Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
Flume, Patrick A, Liou, Theodore G, Borowitz, Drucy S, Li, Haihong, Yen, Karl, Ordoñez, Claudia L, Geller, David E
Published in Chest (01.09.2012)
Published in Chest (01.09.2012)
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A functional CFTR assay using primary cystic fibrosis intestinal organoids
Dekkers, Johanna F, Wiegerinck, Caroline L, de Jonge, Hugo R, Bronsveld, Inez, Janssens, Hettie M, de Winter-de Groot, Karin M, Brandsma, Arianne M, de Jong, Nienke W M, Bijvelds, Marcel J C, Scholte, Bob J, Nieuwenhuis, Edward E S, van den Brink, Stieneke, Clevers, Hans, van der Ent, Cornelis K, Middendorp, Sabine, Beekman, Jeffrey M
Published in Nature medicine (01.07.2013)
Published in Nature medicine (01.07.2013)
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Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del / F508del-CFTR or F508del / G551D-CFTR
Donaldson, Scott H., Pilewski, Joseph M., Griese, Matthias, Cooke, Jon, Viswanathan, Lakshmi, Tullis, Elizabeth, Davies, Jane C., Lekstrom-Himes, Julie A., Wang, Linda T.
Published in American journal of respiratory and critical care medicine (15.01.2018)
Published in American journal of respiratory and critical care medicine (15.01.2018)
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Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis
Rowe, Steven M., Heltshe, Sonya L., Gonska, Tanja, Donaldson, Scott H., Borowitz, Drucy, Gelfond, Daniel, Sagel, Scott D., Khan, Umer, Mayer-Hamblett, Nicole, Van Dalfsen, Jill M., Joseloff, Elizabeth, Ramsey, Bonnie W.
Published in American journal of respiratory and critical care medicine (15.07.2014)
Published in American journal of respiratory and critical care medicine (15.07.2014)
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Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
Clancy, J P, Rowe, Steven M, Accurso, Frank J, Aitken, Moira L, Amin, Raouf S, Ashlock, Melissa A, Ballmann, Manfred, Boyle, Michael P, Bronsveld, Inez, Campbell, Preston W, De Boeck, Kris, Donaldson, Scott H, Dorkin, Henry L, Dunitz, Jordan M, Durie, Peter R, Jain, Manu, Leonard, Anissa, McCoy, Karen S, Moss, Richard B, Pilewski, Joseph M, Rosenbluth, Daniel B, Rubenstein, Ronald C, Schechter, Michael S, Botfield, Martyn, Ordoñez, Claudia L, Spencer-Green, George T, Vernillet, Laurent, Wisseh, Steve, Yen, Karl, Konstan, Michael W
Published in Thorax (01.01.2012)
Published in Thorax (01.01.2012)
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Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden
Schwarzenberg, Sarah Jane, Bellin, Melena, Husain, Sohail Z., Ahuja, Monika, Barth, Bradley, Davis, Heather, Durie, Peter R., Fishman, Douglas S., Freedman, Steven D., Gariepy, Cheryl E., Giefer, Matthew J., Gonska, Tanja, Heyman, Melvin B., Himes, Ryan, Kumar, Soma, Morinville, Veronique D., Lowe, Mark E., Nuehring, Neil E., Ooi, Chee Y., Pohl, John F., Troendle, David, Werlin, Steven L., Wilschanski, Michael, Yen, Elizabeth, Uc, Aliye
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
Accurso, Frank J, Rowe, Steven M, Clancy, J.P, Boyle, Michael P, Dunitz, Jordan M, Durie, Peter R, Sagel, Scott D, Hornick, Douglas B, Konstan, Michael W, Donaldson, Scott H, Moss, Richard B, Pilewski, Joseph M, Rubenstein, Ronald C, Uluer, Ahmet Z, Aitken, Moira L, Freedman, Steven D, Rose, Lynn M, Mayer-Hamblett, Nicole, Dong, Qunming, Zha, Jiuhong, Stone, Anne J, Olson, Eric R, Ordoñez, Claudia L, Campbell, Preston W, Ashlock, Melissa A, Ramsey, Bonnie W
Published in The New England journal of medicine (18.11.2010)
Published in The New England journal of medicine (18.11.2010)
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Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation
Harris, J. Kirk, Wagner, Brandie D., Zemanick, Edith T., Robertson, Charles E., Stevens, Mark J., Heltshe, Sonya L., Rowe, Steven M., Sagel, Scott D.
Published in Annals of the American Thoracic Society (01.02.2020)
Published in Annals of the American Thoracic Society (01.02.2020)
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Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease
Szymanski, Eva P., Leung, Janice M., Fowler, Cedar J., Haney, Carissa, Hsu, Amy P., Chen, Fei, Duggal, Priya, Oler, Andrew J., McCormack, Ryan, Podack, Eckhard, Drummond, Rebecca A., Lionakis, Michail S., Browne, Sarah K., Prevots, D. Rebecca, Knowles, Michael, Cutting, Gary, Liu, Xinyue, Devine, Scott E., Fraser, Claire M., Tettelin, Hervé, Olivier, Kenneth N., Holland, Steven M.
Published in American journal of respiratory and critical care medicine (01.09.2015)
Published in American journal of respiratory and critical care medicine (01.09.2015)
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