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Items: 1 to 20 of 95

1.
Gene therapy for cystic fibrosis: new tools for precision medicine
Jin-A Lee, Alex Cho, Elena N. Huang, Yiming Xu, Henry Quach, Jim Hu, Amy P. Wong
J Transl Med. 2021; 19: 452. Published online 2021 Oct 30. doi: 10.1186/s12967-021-03099-4
PMCID:
PMC8556969
AbstractArticlePDF–2.8M
2.
Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
P.G. Middleton, M.A. Mall, P. Dřevínek, L.C. Lands, E.F. McKone, D. Polineni, B.W. Ramsey, J.L. Taylor-Cousar, E. Tullis, F. Vermeulen, G. Marigowda, C.M. McKee, S.M. Moskowitz, N. Nair, J. Savage, C. Simard, S. Tian, D. Waltz, F. Xuan, S.M. Rowe, R. Jain
N Engl J Med. Author manuscript; available in PMC 2020 Jun 9.
Published in final edited form as: N Engl J Med. 2019 Nov 7; 381(19): 1809–1819. Published online 2019 Oct 31. doi: 10.1056/NEJMoa1908639
PMCID:
PMC7282384
AbstractArticlePDF–321K
3.
Advances in gene therapy for cystic fibrosis lung disease
Ziying Yan, Paul B McCray Jr, John F Engelhardt
Hum Mol Genet. 2019 Oct 1; 28(R1): R88–R94. Published online 2019 Jul 23. doi: 10.1093/hmg/ddz139
PMCID:
PMC6796993
AbstractArticlePDF–9.4M
4.
Small molecule ion channels increase host defenses in cystic fibrosis airway epithelia
Katrina A. Muraglia, Rajeev S. Chorghade, Bo Ram Kim, Xiao Xiao Tang, Viral S. Shah, Anthony S. Grillo, Page N. Daniels, Alexander G. Cioffi, Philip H. Karp, Lingyang Zhu, Michael J. Welsh, Martin D. Burke
Nature. Author manuscript; available in PMC 2019 Sep 13.
Published in final edited form as: Nature. 2019 Mar; 567(7748): 405–408. Published online 2019 Mar 13. doi: 10.1038/s41586-019-1018-5
PMCID:
PMC6492938
AbstractArticlePDF–1.3M
5.
Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Phe508del and a Residual Function Mutation
S.M. Rowe, C. Daines, F.C. Ringshausen, E. Kerem, J. Wilson, E. Tullis, N. Nair, C. Simard, L. Han, E.P. Ingenito, C. McKee, J. Lekstrom-Himes, J.C. Davies
N Engl J Med. Author manuscript; available in PMC 2019 Apr 18.
Published in final edited form as: N Engl J Med. 2017 Nov 23; 377(21): 2024–2035. Published online 2017 Nov 3. doi: 10.1056/NEJMoa1709847
PMCID:
PMC6472479
AbstractArticlePDF–604K
6.
Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
C.E. Wainwright, J.S. Elborn, B.W. Ramsey, G. Marigowda, X. Huang, M. Cipolli, C. Colombo, J.C. Davies, K. De Boeck, P.A. Flume, M.W. Konstan, S.A. McColley, K. McCoy, E.F. McKone, A. Munck, F. Ratjen, S.M. Rowe, D. Waltz, M.P. Boyle
N Engl J Med. Author manuscript; available in PMC 2016 Feb 23.
Published in final edited form as: N Engl J Med. 2015 Jul 16; 373(3): 220–231. Published online 2015 May 17. doi: 10.1056/NEJMoa1409547
PMCID:
PMC4764353
AbstractArticlePDF–655K
7.
Impaired Mucus Detachment Disrupts Mucociliary Transport in a Piglet Model of Cystic Fibrosis
Mark J. Hoegger, Anthony J. Fischer, James D. McMenimen, Lynda S. Ostedgaard, Alex J. Tucker, Maged A. Awadalla, Thomas O. Moninger, Andrew S. Michalski, Eric A. Hoffman, Joseph Zabner, David A. Stoltz, Michael J. Welsh
Science. Author manuscript; available in PMC 2015 Mar 2.
Published in final edited form as: Science. 2014 Aug 15; 345(6198): 818–822. doi: 10.1126/science.1255825
PMCID:
PMC4346163
AbstractArticlePDF–655K
8.
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth, Kevin Iori, A. Scott Patterson, Jessica L. Jacobson, John R. Marshall, William K. Seltzer, Pasquale Patrizio, Eric A. Evans, Balaji S. Srinivasan
Genet Med. 2013 Mar; 15(3): 178–186. Published online 2012 Sep 13. doi: 10.1038/gim.2012.114
PMCID:
PMC3908551
AbstractArticlePDF–411K
9.
GENETIC MODIFIERS OF LIVER DISEASE IN CYSTIC FIBROSIS
Jaclyn R. Bartlett, Kenneth J. Friedman, Simon C. Ling, Rhonda G. Pace, Scott C. Bell, Billy Bourke, Giuseppe Castaldo, Carlo Castellani, Marco Cipolli, Carla Colombo, John L. Colombo, Dominique Debray, Adriana Fernandez, Florence Lacaille, Milan Macek, Jr., Marion Rowland, Francesco Salvatore, Christopher J. Taylor, Claire Wainwright, Michael Wilschanski, Dana Zemková, William B. Hannah, M. James Phillips, Mary Corey, Julian Zielenski, Ruslan Dorfman, Yunfei Wang, Fei Zou, Lawrence M. Silverman, Mitchell L. Drumm, Fred A. Wright, Ethan M. Lange, Peter R. Durie, Michael R. Knowles
JAMA. Author manuscript; available in PMC 2013 Jul 15.
Published in final edited form as: JAMA. 2009 Sep 9; 302(10): 1076–1083. doi: 10.1001/jama.2009.1295
PMCID:
PMC3711243
AbstractArticlePDF–342K
10.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Mary J Emond, Tin Louie, Julia Emerson, Wei Zhao, Rasika A. Mathias, Michael R. Knowles, Fred A. Wright, Mark J. Rieder, Holly K. Tabor, Debbie A. Nickerson, Kathleen C. Barnes, NHLBI GO Exome Sequencing Project, Lung GO, Ronald L. Gibson, Michael J. Bamshad
Nat Genet. Author manuscript; available in PMC 2013 Jul 5.
Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 886–889. Published online 2012 Jul 8. doi: 10.1038/ng.2344
PMCID:
PMC3702264
AbstractArticlePDF–341K
11.
Role of Mutant CFTR in Hypersusceptibility of Cystic Fibrosis Patients to Lung Infections
Gerald B. Pier, Martha Grout, Tanweer S. Zaidi, John C. Olsen, Larry G. Johnson, James R. Yankaskas, Joanna B. Goldberg
Science. Author manuscript; available in PMC 2013 Jun 10.
Published in final edited form as: Science. 1996 Jan 5; 271(5245): 64–67. doi: 10.1126/science.271.5245.64
PMCID:
PMC3677515
AbstractArticlePDF–371K
12.
A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
Jessica X. Chong, Rebecca Ouwenga, Rebecca L. Anderson, Darrel J. Waggoner, Carole Ober
Am J Hum Genet. 2012 Oct 5; 91(4): 608–620. doi: 10.1016/j.ajhg.2012.08.007
PMCID:
PMC3484657
AbstractArticlePDF–274K
13.
Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia
Jeng-Haur Chen, David A. Stoltz, Philip H. Karp, Sarah E. Ernst, Alejandro A. Pezzulo, Thomas O. Moninger, Michael V. Rector, Leah R. Reznikov, Janice L. Launspach, Kathryn Chaloner, Joseph Zabner, Michael J. Welsh
Cell. Author manuscript; available in PMC 2011 Jun 10.
Published in final edited form as: Cell. 2010 Dec 10; 143(6): 911–923. doi: 10.1016/j.cell.2010.11.029
PMCID:
PMC3057187
AbstractArticlePDF–2.3M
14.
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations
Els Dequeker, Manfred Stuhrmann, Michael A Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Ferec, Milan Macek, Pier-Franco Pignatti, Hans Scheffer, Marianne Schwartz, Michal Witt, Martin Schwarz, Emmanuelle Girodon
Eur J Hum Genet. 2009 Jan; 17(1): 51–65. Published online 2008 Aug 6. doi: 10.1038/ejhg.2008.136
PMCID:
PMC2985951
AbstractArticlePDF–273K
15.
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
Lindsay A. Bremer, Scott M. Blackman, Lori L. Vanscoy, Kathryn E. McDougal, Amanda Bowers, Kathleen M. Naughton, David J. Cutler, Garry R. Cutting
Hum Mol Genet. 2008 Jul 15; 17(14): 2228–2237. Published online 2008 Apr 17. doi: 10.1093/hmg/ddn123
PMCID:
PMC2902288
AbstractArticlePDF–132K
16.
IFRD1 polymorphisms in cystic fibrosis with potential link to altered neutrophil function
YuanYuan Gu, Isaac T. W. Harley, Lindsay B. Henderson, Bruce J. Aronow, Ilja Vietor, Lukas A. Huber, John B. Harley, Jeffrey R. Kilpatrick, Carl D. Langefeld, Adrienne H. Williams, Anil G. Jegga, Jing Chen, Marsha Wills-Karp, S. Hasan Arshad, Susan L. Ewart, Chloe L. Thio, Leah M. Flick, Marie-Dominique Filippi, H. Leighton Grimes, Mitchell L. Drumm, Garry R. Cutting, Michael R. Knowles, Christopher L. Karp
Nature. Author manuscript; available in PMC 2010 Mar 18.
Published in final edited form as: Nature. 2009 Apr 23; 458(7241): 1039–1042. Published online 2009 Feb 25. doi: 10.1038/nature07811
PMCID:
PMC2841516
AbstractArticlePDF–950K
17.
Pharmacological correction of a defect in PPAR? signaling ameliorates disease severity in Cftr-deficient mice
Gregory S. Harmon, Darren S. Dumlao, Damian T. Ng, Kim E. Barrett, Edward A. Dennis, Hui Dong, Christopher K. Glass
Nat Med. Author manuscript; available in PMC 2010 Sep 1.
Published in final edited form as: Nat Med. 2010 Mar; 16(3): 313–318. Published online 2010 Feb 14. doi: 10.1038/nm.2101
PMCID:
PMC2834836
ArticlePDF–1022K
18.
Variants in mannose‐binding lectin and tumour necrosis factor α affect survival in cystic fibrosis
Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, Garry R Cutting
J Med Genet. 2007 Mar; 44(3): 209–214. Published online 2006 Dec 11. doi: 10.1136/jmg.2006.046318
PMCID:
PMC2598033
AbstractArticlePDF–275K
19.
Disruption of the CFTR Gene Produces a Model of Cystic Fibrosis in Newborn Pigs
Christopher S. Rogers, David A. Stoltz, David K. Meyerholz, Lynda S. Ostedgaard, Tatiana Rokhlina, Peter J. Taft, Mark P. Rogan, Alejandro A. Pezzulo, Philip H. Karp, Omar A. Itani, Amanda C. Kabel, Christine L. Wohlford-Lenane, Greg J. Davis, Tony L. Smith, Melissa Samuel, David Wax, Clifton N. Murphy, August Rieke, Kristin Whitworth, Aliye Uc, Timothy D. Starner, Kim A. Brogden, Joel Shilyansky, Paul B. McCray, Jr., Joseph Zabner, Randall S. Prather, Michael J. Welsh
Science. Author manuscript; available in PMC 2009 Mar 26.
Published in final edited form as: Science. 2008 Sep 26; 321(5897): 1837–1841. doi: 10.1126/science.1163600
PMCID:
PMC2570747
AbstractArticlePDF–5.9M
20.
Could a defective epithelial sodium channel lead to bronchiectasis
Isabelle Fajac, Marion Viel, Sébastien Sublemontier, Dominique Hubert, Thierry Bienvenu
Respir Res. 2008; 9(1): 46. Published online 2008 May 28. doi: 10.1186/1465-9921-9-46
PMCID:
PMC2435537
AbstractArticlePDF–433K

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