메뉴 건너뛰기




Volumn 145, Issue , 2015, Pages 19-34

New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls

Author keywords

CFTR2; Correctors; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator protein; Potentiators; Trial end points

Indexed keywords

ATALUREN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENTAMICIN; IVACAFTOR; LUMACAFTOR;

EID: 84918819788     PISSN: 01637258     EISSN: 1879016X     Source Type: Journal    
DOI: 10.1016/j.pharmthera.2014.06.005     Document Type: Review
Times cited : (144)

References (183)
  • 1
    • 0028219059 scopus 로고
    • Treatment compliance in adults with cystic fibrosis
    • (PubMed PMID: 8128399. Pubmed Central PMCID: 474321. Epub 1994/02/01. eng)
    • J. Abbott, M. Dodd, D. Bilton, and A.K. Webb Treatment compliance in adults with cystic fibrosis Thorax 49 2 1994, Feb 115 120 (PubMed PMID: 8128399. Pubmed Central PMCID: 474321. Epub 1994/02/01. eng)
    • (1994) Thorax , vol.49 , Issue.2 , pp. 115-120
    • Abbott, J.1    Dodd, M.2    Bilton, D.3    Webb, A.K.4
  • 2
    • 79952211206 scopus 로고    scopus 로고
    • Denufosol tetrasodium in patients with cystic fibrosis and normal to mildly impaired lung function
    • (PubMed PMID: 21169471)
    • F.J. Accurso, R.B. Moss, R.W. Wilmott, R.D. Anbar, A.E. Schaberg, and T.A. Durham Denufosol tetrasodium in patients with cystic fibrosis and normal to mildly impaired lung function Am J Respir Crit Care Med 183 5 2011, Mar 1 627 634 (PubMed PMID: 21169471)
    • (2011) Am J Respir Crit Care Med , vol.183 , Issue.5 , pp. 627-634
    • Accurso, F.J.1    Moss, R.B.2    Wilmott, R.W.3    Anbar, R.D.4    Schaberg, A.E.5    Durham, T.A.6
  • 3
    • 78549279173 scopus 로고    scopus 로고
    • Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation
    • (PubMed PMID: 21083385. Pubmed Central PMCID: 3148255. Epub 2010/11/19. eng)
    • F.J. Accurso, S.M. Rowe, J.P. Clancy, M.P. Boyle, J.M. Dunitz, and P.R. Durie Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation N Engl J Med 363 21 2010, Nov 18 1991 2003 (PubMed PMID: 21083385. Pubmed Central PMCID: 3148255. Epub 2010/11/19. eng)
    • (2010) N Engl J Med , vol.363 , Issue.21 , pp. 1991-2003
    • Accurso, F.J.1    Rowe, S.M.2    Clancy, J.P.3    Boyle, M.P.4    Dunitz, J.M.5    Durie, P.R.6
  • 4
    • 84884266668 scopus 로고    scopus 로고
    • High-content siRNA screen reveals global ENaC regulators and potential cystic fibrosis therapy targets
    • (PubMed PMID: 24034256. Epub 2013/09/17. eng)
    • J. Almaca, D. Faria, M. Sousa, I. Uliyakina, C. Conrad, and L. Sirianant High-content siRNA screen reveals global ENaC regulators and potential cystic fibrosis therapy targets Cell 154 6 2013, Sep 12 1390 1400 (PubMed PMID: 24034256. Epub 2013/09/17. eng)
    • (2013) Cell , vol.154 , Issue.6 , pp. 1390-1400
    • Almaca, J.1    Faria, D.2    Sousa, M.3    Uliyakina, I.4    Conrad, C.5    Sirianant, L.6
  • 5
    • 84858216127 scopus 로고    scopus 로고
    • Amiloride-sensitive sodium channels and pulmonary edema
    • (PubMed PMID: 21637371. Pubmed Central PMCID: 3100597. Epub 2011/06/04. eng)
    • M. Althaus, W.G. Clauss, and M. Fronius Amiloride-sensitive sodium channels and pulmonary edema Pulm Med 2011 2011 830320 (PubMed PMID: 21637371. Pubmed Central PMCID: 3100597. Epub 2011/06/04. eng)
    • (2011) Pulm Med , vol.2011 , pp. 830320
    • Althaus, M.1    Clauss, W.G.2    Fronius, M.3
  • 6
    • 2942580461 scopus 로고    scopus 로고
    • CFTR and chaperones: Processing and degradation
    • (PubMed PMID: 15126691. Epub 2004/05/06. eng)
    • M.D. Amaral CFTR and chaperones: processing and degradation J Mol Neurosci 23 1-2 2004 41 48 (PubMed PMID: 15126691. Epub 2004/05/06. eng)
    • (2004) J Mol Neurosci , vol.23 , Issue.12 , pp. 41-48
    • Amaral, M.D.1
  • 7
    • 84883448606 scopus 로고    scopus 로고
    • Rescuing mutant CFTR: A multi-task approach to a better outcome in treating cystic fibrosis
    • (PubMed PMID: 23331027. Epub 2013/01/22. eng)
    • M.D. Amaral, and C.M. Farinha Rescuing mutant CFTR: a multi-task approach to a better outcome in treating cystic fibrosis Curr Pharm Des 19 19 2013 3497 3508 (PubMed PMID: 23331027. Epub 2013/01/22. eng)
    • (2013) Curr Pharm des , vol.19 , Issue.19 , pp. 3497-3508
    • Amaral, M.D.1    Farinha, C.M.2
  • 8
    • 34347333381 scopus 로고    scopus 로고
    • Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis
    • (PubMed PMID: 17573123. Epub 2007/06/19. eng)
    • M.D. Amaral, and K. Kunzelmann Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis Trends Pharmacol Sci 28 7 2007, Jul 334 341 (PubMed PMID: 17573123. Epub 2007/06/19. eng)
    • (2007) Trends Pharmacol Sci , vol.28 , Issue.7 , pp. 334-341
    • Amaral, M.D.1    Kunzelmann, K.2
  • 13
    • 84905719671 scopus 로고    scopus 로고
    • Anonymous Cystic Fibrosis Trust 2013 London, UK
    • Anonymous UK CF Registry Annual Data Report 2011 2013 © Cystic Fibrosis Trust 2013 London, UK
    • (2013) UK CF Registry Annual Data Report 2011
  • 15
    • 84905756515 scopus 로고    scopus 로고
    • Anonymous Cystic Fibrosis Association of New Zealand Auckland, New Zealand
    • Anonymous Port CFNZ 2012 National Data Registry 2013 Cystic Fibrosis Association of New Zealand Auckland, New Zealand
    • (2013) Port CFNZ 2012 National Data Registry
  • 16
    • 85048378866 scopus 로고    scopus 로고
    • Accelerating drug discovery
    • Anonymous (PubMed PMID: 24529455. Epub 2014/02/18. eng)
    • Anonymous Accelerating drug discovery Lancet 383 9917 2014, Feb 15 575 (PubMed PMID: 24529455. Epub 2014/02/18. eng)
    • (2014) Lancet , vol.383 , Issue.9917 , pp. 575
  • 17
    • 84898545067 scopus 로고    scopus 로고
    • Gene therapy in cystic fibrosis
    • (Epub 2014 Jan 24)
    • D.K. Armstrong, S. Cunningham, J.C. Davies, and E.W. Alton Gene therapy in cystic fibrosis Arch Dis Child 99 5 2014, may 465 468 10.1136/archdischild-2012-302158 (Epub 2014 Jan 24)
    • (2014) Arch Dis Child , vol.99 , Issue.5 , pp. 465-468
    • Armstrong, D.K.1    Cunningham, S.2    Davies, J.C.3    Alton, E.W.4
  • 18
    • 84903829603 scopus 로고    scopus 로고
    • Effects of Ivacaftor in cystic fibrosis patients carrying the G551D mutation with severe lung disease
    • (PubMed PMID: 24522694. Epub 2014/02/14. Eng)
    • P.J. Barry, B.J. Plant, A. Nair, S. Bicknell, N.J. Simmonds, and N.J. Bell Effects of Ivacaftor in cystic fibrosis patients carrying the G551D mutation with severe lung disease Chest 146 1 2014, Feb 13 152 158 10.1378/chest.13-2397 (PubMed PMID: 24522694. Epub 2014/02/14. Eng)
    • (2014) Chest , vol.146 , Issue.1 , pp. 152-158
    • Barry, P.J.1    Plant, B.J.2    Nair, A.3    Bicknell, S.4    Simmonds, N.J.5    Bell, N.J.6
  • 19
    • 0032720705 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    • (PubMed PMID: 10449429. Pubmed Central PMCID: 481050. Epub 1999/08/17. eng)
    • E.R. Barton-Davis, L. Cordier, D.I. Shoturma, S.E. Leland, and H.L. Sweeney Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice J Clin Invest 104 4 1999, Aug 375 381 (PubMed PMID: 10449429. Pubmed Central PMCID: 481050. Epub 1999/08/17. eng)
    • (1999) J Clin Invest , vol.104 , Issue.4 , pp. 375-381
    • Barton-Davis, E.R.1    Cordier, L.2    Shoturma, D.I.3    Leland, S.E.4    Sweeney, H.L.5
  • 20
    • 84905726464 scopus 로고    scopus 로고
    • Challenges of adult cystic fibrosis care
    • M. Mall, J.S. Elborn
    • S.C. Bell, and D.W. Reid Challenges of adult cystic fibrosis care M. Mall, J.S. Elborn, ERS Monograph Cystic Fibrosis. No. 64 2014 286 303
    • (2014) ERS Monograph Cystic Fibrosis. No. 64 , pp. 286-303
    • Bell, S.C.1    Reid, D.W.2
  • 21
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • (PubMed PMID: 12007216. Epub 2002/05/15. eng)
    • J.L. Bobadilla, M. Macek Jr., J.P. Fine, and P.M. Farrell Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening Hum Mutat 19 6 2002, Jun 575 606 (PubMed PMID: 12007216. Epub 2002/05/15. eng)
    • (2002) Hum Mutat , vol.19 , Issue.6 , pp. 575-606
    • Bobadilla, J.L.1    MacEk, M.2    Fine, J.P.3    Farrell, P.M.4
  • 22
    • 84904002908 scopus 로고    scopus 로고
    • Randomised trial of combined CFTR corrector and potentiator therapy in F508del-CFTR cystic fibrosis
    • M.P. Boyle, S.C. Bell, M.W. Konstan, S. McColley, S.M. Rowe, and E. Reitschel Randomised trial of combined CFTR corrector and potentiator therapy in F508del-CFTR cystic fibrosis The Lancet Respiratory Medicine 2 7 July 2014 527 538 10.1016/S2213-2600(14)70132-8
    • (2014) The Lancet Respiratory Medicine , vol.2 , Issue.7 , pp. 527-538
    • Boyle, M.P.1    Bell, S.C.2    Konstan, M.W.3    McColley, S.4    Rowe, S.M.5    Reitschel, E.6
  • 23
    • 84880044346 scopus 로고    scopus 로고
    • A new era in the treatment of cystic fibrosis: Correction of the underlying CFTR defect
    • (PubMed PMID: 24429096. Epub 2014/01/17. eng)
    • M.P. Boyle, and K. De Boeck A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect Lancet Respir Med 1 2 2013, Apr 158 163 (PubMed PMID: 24429096. Epub 2014/01/17. eng)
    • (2013) Lancet Respir Med , vol.1 , Issue.2 , pp. 158-163
    • Boyle, M.P.1    De Boeck, K.2
  • 24
    • 84859846041 scopus 로고    scopus 로고
    • Hot off the breath: 'I've a cost for' - The 64 million dollar question
    • (PubMed PMID: 22407889. Epub 2012/03/13. eng)
    • A. Bush, and N.J. Simmonds Hot off the breath: 'I've a cost for' - the 64 million dollar question Thorax 67 5 2012, May 382 384 (PubMed PMID: 22407889. Epub 2012/03/13. eng)
    • (2012) Thorax , vol.67 , Issue.5 , pp. 382-384
    • Bush, A.1    Simmonds, N.J.2
  • 25
    • 58849099149 scopus 로고    scopus 로고
    • Regulation of the epithelial sodium channel by membrane trafficking
    • (PubMed PMID: 18508877. Pubmed Central PMCID: 2636908. Epub 2008/05/30. eng)
    • M.B. Butterworth, R.S. Edinger, R.A. Frizzell, and J.P. Johnson Regulation of the epithelial sodium channel by membrane trafficking Am J Physiol Renal Physiol 296 1 2009, Jan F10 F24 (PubMed PMID: 18508877. Pubmed Central PMCID: 2636908. Epub 2008/05/30. eng)
    • (2009) Am J Physiol Renal Physiol , vol.296 , Issue.1 , pp. 10-F24
    • Butterworth, M.B.1    Edinger, R.S.2    Frizzell, R.A.3    Johnson, J.P.4
  • 26
    • 54949112835 scopus 로고    scopus 로고
    • TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity
    • (PubMed PMID: 18772398. Epub 2008/09/06. eng)
    • A. Caputo, E. Caci, L. Ferrera, N. Pedemonte, C. Barsanti, and E. Sondo TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity Science 322 5901 2008, Oct 24 590 594 (PubMed PMID: 18772398. Epub 2008/09/06. eng)
    • (2008) Science , vol.322 , Issue.5901 , pp. 590-594
    • Caputo, A.1    Caci, E.2    Ferrera, L.3    Pedemonte, N.4    Barsanti, C.5    Sondo, E.6
  • 27
    • 0025906695 scopus 로고
    • Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
    • (PubMed PMID: 1709095. Pubmed Central PMCID: 452795. Epub 1991/06/11. eng)
    • C.S. Chu, B.C. Trapnell, J.J. Murtagh Jr., J. Moss, W. Dalemans, and S. Jallat Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium EMBO J 10 6 1991, Jun 1355 1363 (PubMed PMID: 1709095. Pubmed Central PMCID: 452795. Epub 1991/06/11. eng)
    • (1991) EMBO J , vol.10 , Issue.6 , pp. 1355-1363
    • Chu, C.S.1    Trapnell, B.C.2    Murtagh, J.J.3    Moss, J.4    Dalemans, W.5    Jallat, S.6
  • 28
    • 0034961464 scopus 로고    scopus 로고
    • Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
    • (PubMed PMID: 11401894. Epub 2001/06/13. eng)
    • J.P. Clancy, Z. Bebok, F. Ruiz, C. King, J. Jones, and L. Walker Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis Am J Respir Crit Care Med 163 7 2001, Jun 1683 1692 (PubMed PMID: 11401894. Epub 2001/06/13. eng)
    • (2001) Am J Respir Crit Care Med , vol.163 , Issue.7 , pp. 1683-1692
    • Clancy, J.P.1    Bebok, Z.2    Ruiz, F.3    King, C.4    Jones, J.5    Walker, L.6
  • 29
    • 84855202429 scopus 로고    scopus 로고
    • 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
    • (PubMed PMID: 21825083. Pubmed Central PMCID: 3746507. Epub 2011/08/10. eng)
    • J.P. Clancy, S.M. Rowe, F.J. Accurso, M.L. Aitken, R.S. Amin, and M.A. Ashlock 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 Thorax 67 1 2012, Jan 12 18 (PubMed PMID: 21825083. Pubmed Central PMCID: 3746507. Epub 2011/08/10. eng)
    • (2012) Thorax , vol.67 , Issue.1 , pp. 12-18
    • Clancy, J.P.1    Rowe, S.M.2    Accurso, F.J.3    Aitken, M.L.4    Amin, R.S.5    Ashlock, M.A.6
  • 30
    • 84894259985 scopus 로고    scopus 로고
    • Paying twice: Questions over high cost of cystic fibrosis drug developed with charitable funding
    • D. Cohen, and J. Raftery Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding BMJ 348 2014 g1445
    • (2014) BMJ , vol.348 , pp. 1445
    • Cohen, D.1    Raftery, J.2
  • 31
    • 77958034453 scopus 로고    scopus 로고
    • Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function
    • (PubMed PMID: 20580019. Pubmed Central PMCID: 2948620. Epub 2010/06/29. eng) e1-3
    • J.M. Collaco, S.M. Blackman, J. McGready, K.M. Naughton, and G.R. Cutting Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function J Pediatr 157 5 2010, Nov 802-7 e1-3 (PubMed PMID: 20580019. Pubmed Central PMCID: 2948620. Epub 2010/06/29. eng)
    • (2010) J Pediatr , vol.157 , Issue.5 , pp. 802-807
    • Collaco, J.M.1    Blackman, S.M.2    McGready, J.3    Naughton, K.M.4    Cutting, G.R.5
  • 32
    • 81355142724 scopus 로고    scopus 로고
    • Effect of temperature on cystic fibrosis lung disease and infections: A replicated cohort study
    • (PubMed PMID: 22125624. Pubmed Central PMCID: 3220679. Epub 2011/11/30. eng)
    • J.M. Collaco, J. McGready, D.M. Green, K.M. Naughton, C.P. Watson, and T. Shields Effect of temperature on cystic fibrosis lung disease and infections: a replicated cohort study PLoS One 6 11 2011 e27784 (PubMed PMID: 22125624. Pubmed Central PMCID: 3220679. Epub 2011/11/30. eng)
    • (2011) PLoS One , vol.6 , Issue.11 , pp. 27784
    • Collaco, J.M.1    McGready, J.2    Green, D.M.3    Naughton, K.M.4    Watson, C.P.5    Shields, T.6
  • 33
    • 38749090611 scopus 로고    scopus 로고
    • Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease
    • (PubMed PMID: 18230779. Pubmed Central PMCID: 3139475. Epub 2008/01/31. eng)
    • J.M. Collaco, L. Vanscoy, L. Bremer, K. McDougal, S.M. Blackman, and A. Bowers Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease JAMA 299 4 2008, Jan 30 417 424 (PubMed PMID: 18230779. Pubmed Central PMCID: 3139475. Epub 2008/01/31. eng)
    • (2008) JAMA , vol.299 , Issue.4 , pp. 417-424
    • Collaco, J.M.1    Vanscoy, L.2    Bremer, L.3    McDougal, K.4    Blackman, S.M.5    Bowers, A.6
  • 34
    • 79958176941 scopus 로고    scopus 로고
    • The implementation of standards of care in Europe: State of the art
    • (PubMed PMID: 21658645. eng)
    • C. Colombo, and J. Littlewood The implementation of standards of care in Europe: state of the art J Cyst Fibros 10 Suppl. 2 2011, Jun S7 S15 (PubMed PMID: 21658645. eng)
    • (2011) J Cyst Fibros , vol.10 , pp. 7-S15
    • Colombo, C.1    Littlewood, J.2
  • 35
    • 0034743705 scopus 로고    scopus 로고
    • Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments
    • (PubMed PMID: 11237674. Epub 2001/03/10. eng)
    • A. Colosimo, K.K. Goncz, G. Novelli, B. Dallapiccola, and D.C. Gruenert Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments Mol Ther 3 2 2001, Feb 178 185 (PubMed PMID: 11237674. Epub 2001/03/10. eng)
    • (2001) Mol Ther , vol.3 , Issue.2 , pp. 178-185
    • Colosimo, A.1    Goncz, K.K.2    Novelli, G.3    Dallapiccola, B.4    Gruenert, D.C.5
  • 36
    • 84896545314 scopus 로고    scopus 로고
    • Predictors and outcome of low initial forced expiratory volume in 1 second measurement in children with cystic fibrosis
    • (Epub 2014 Jan 10)
    • G. Com, J.L. Carroll, M.M. Castro, X. Tang, S. Jambhekar, and A. Berlinski Predictors and outcome of low initial forced expiratory volume in 1 second measurement in children with cystic fibrosis J Pediatr 164 4 2014 Apr 832 838 10.1016/j.jpeds.2013.11.064 (Epub 2014 Jan 10)
    • (2014) J Pediatr , vol.164 , Issue.4 , pp. 832-838
    • Com, G.1    Carroll, J.L.2    Castro, M.M.3    Tang, X.4    Jambhekar, S.5    Berlinski, A.6
  • 37
    • 0028196665 scopus 로고
    • CFTR haplotype backgrounds on normal and mutant CFTR genes
    • (PubMed PMID: 7520797. Epub 1994/04/01. eng)
    • H. Cuppens, H. Teng, P. Raeymaekers, B.C. De, and J.J. Cassiman CFTR haplotype backgrounds on normal and mutant CFTR genes Hum Mol Genet 3 4 1994, Apr 607 614 (PubMed PMID: 7520797. Epub 1994/04/01. eng)
    • (1994) Hum Mol Genet , vol.3 , Issue.4 , pp. 607-614
    • Cuppens, H.1    Teng, H.2    Raeymaekers, P.3    De, B.C.4    Cassiman, J.J.5
  • 38
    • 0026325533 scopus 로고
    • Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation
    • (PubMed PMID: 1722027. Epub 1991/12/19. eng)
    • W. Dalemans, P. Barbry, G. Champigny, S. Jallat, K. Dott, and D. Dreyer Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation Nature 354 6354 1991, Dec 19-26 526 528 (PubMed PMID: 1722027. Epub 1991/12/19. eng)
    • (1991) Nature , vol.354 , Issue.6354 , pp. 526-528
    • Dalemans, W.1    Barbry, P.2    Champigny, G.3    Jallat, S.4    Dott, K.5    Dreyer, D.6
  • 39
    • 84885071273 scopus 로고    scopus 로고
    • Assessment of clinical response to ivacaftor with lung clearance index in cystic fibrosis patients with a G551D-CFTR mutation and preserved spirometry: A randomised controlled trial
    • (PubMed PMID: 24461666. Epub 2014/01/28. eng)
    • J. Davies, H. Sheridan, N. Bell, S. Cunningham, S.D. Davis, and J.S. Elborn Assessment of clinical response to ivacaftor with lung clearance index in cystic fibrosis patients with a G551D-CFTR mutation and preserved spirometry: a randomised controlled trial Lancet Respir Med 1 8 2013, Oct 630 638 (PubMed PMID: 24461666. Epub 2014/01/28. eng)
    • (2013) Lancet Respir Med , vol.1 , Issue.8 , pp. 630-638
    • Davies, J.1    Sheridan, H.2    Bell, N.3    Cunningham, S.4    Davis, S.D.5    Elborn, J.S.6
  • 40
    • 84878970875 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation
    • (PubMed PMID: 23590265. eng)
    • J.C. Davies, C.E. Wainwright, G.J. Canny, M.A. Chilvers, M.S. Howenstine, and A. Munck Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation Am J Respir Crit Care Med 187 11 2013, Jun 1 1219 1225 (PubMed PMID: 23590265. eng)
    • (2013) Am J Respir Crit Care Med , vol.187 , Issue.11 , pp. 1219-1225
    • Davies, J.C.1    Wainwright, C.E.2    Canny, G.J.3    Chilvers, M.A.4    Howenstine, M.S.5    Munck, A.6
  • 41
    • 84905740139 scopus 로고    scopus 로고
    • End-points and biomarkers for clinical trials in cystic fibrosis
    • M. Mall, J.S. Elborn
    • K. De Boeck, I. Fajac, and F. Ratjen End-points and biomarkers for clinical trials in cystic fibrosis M. Mall, J.S. Elborn, ERS Monograph Cystic Fibrosis. No. 64 2014 104 115
    • (2014) ERS Monograph Cystic Fibrosis. No. 64 , pp. 104-115
    • De Boeck, K.1    Fajac, I.2    Ratjen, F.3
  • 42
    • 84872190665 scopus 로고    scopus 로고
    • CFTR biomarkers: Time for promotion to surrogate end-point
    • (PubMed PMID: 22878883. Epub 2012/08/11. eng)
    • K. De Boeck, L. Kent, J. Davies, N. Derichs, M. Amaral, and S.M. Rowe CFTR biomarkers: time for promotion to surrogate end-point Eur Respir J 41 1 2013, Jan 203 216 (PubMed PMID: 22878883. Epub 2012/08/11. eng)
    • (2013) Eur Respir J , vol.41 , Issue.1 , pp. 203-216
    • De Boeck, K.1    Kent, L.2    Davies, J.3    Derichs, N.4    Amaral, M.5    Rowe, S.M.6
  • 43
    • 84896726420 scopus 로고    scopus 로고
    • Ivacaftor, a CFTR potentiator, in cystic fibrosis patients who have a non-G551D-CFTR gating mutation: Phase 3, part 1 results
    • K. De Boeck, J. Paskavitz, X. Chen, and M. Higgins Ivacaftor, a CFTR potentiator, in cystic fibrosis patients who have a non-G551D-CFTR gating mutation: phase 3, part 1 results Pediatr Pulmonol 48 36 2013 292
    • (2013) Pediatr Pulmonol , vol.48 , Issue.36 , pp. 292
    • De Boeck, K.1    Paskavitz, J.2    Chen, X.3    Higgins, M.4
  • 44
    • 84902333547 scopus 로고    scopus 로고
    • The relative frequency of CFTR mutation classes in European patients with cystic fibrosis
    • (PubMed PMID: 24440181. Epub 2014/01/21. Eng)
    • K. De Boeck, A. Zolin, H. Cuppens, H.V. Olesen, and L. Viviani The relative frequency of CFTR mutation classes in European patients with cystic fibrosis J Cyst Fibros 13 4 2014, Jan 15 403 409 10.1016/j.jcf.2013.12.003 (PubMed PMID: 24440181. Epub 2014/01/21. Eng)
    • (2014) J Cyst Fibros , vol.13 , Issue.4 , pp. 403-409
    • De Boeck, K.1    Zolin, A.2    Cuppens, H.3    Olesen, H.V.4    Viviani, L.5
  • 46
    • 84880292828 scopus 로고    scopus 로고
    • A functional CFTR assay using primary cystic fibrosis intestinal organoids
    • (PubMed PMID: 23727931. Epub 2013/06/04. eng)
    • J.F. Dekkers, C.L. Wiegerinck, Bronsveld I. de JHR, H.M. Janssens, and W-dGKM de A functional CFTR assay using primary cystic fibrosis intestinal organoids Nat Med 19 7 2013, Jul 939 945 (PubMed PMID: 23727931. Epub 2013/06/04. eng)
    • (2013) Nat Med , vol.19 , Issue.7 , pp. 939-945
    • Dekkers, J.F.1    Wiegerinck, C.L.2    De Jhr, B.I.3    Janssens, H.M.4    De, W.-D.5
  • 47
    • 0026753172 scopus 로고
    • Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia
    • (PubMed PMID: 1379244. Pubmed Central PMCID: 2289545. Epub 1992/08/01. eng)
    • G.M. Denning, L.S. Ostedgaard, and M.J. Welsh Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia J Cell Biol 118 3 1992, Aug 551 559 (PubMed PMID: 1379244. Pubmed Central PMCID: 2289545. Epub 1992/08/01. eng)
    • (1992) J Cell Biol , vol.118 , Issue.3 , pp. 551-559
    • Denning, G.M.1    Ostedgaard, L.S.2    Welsh, M.J.3
  • 48
    • 77955298789 scopus 로고    scopus 로고
    • Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: Validation and reference data
    • (PubMed PMID: 20627915. Epub 2010/07/16. eng)
    • N. Derichs, J. Sanz, Stolpe C. Von KT, A. Zapf, and B. Tummler Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data Thorax 65 7 2010, Jul 594 599 (PubMed PMID: 20627915. Epub 2010/07/16. eng)
    • (2010) Thorax , vol.65 , Issue.7 , pp. 594-599
    • Derichs, N.1    Sanz, J.2    Von Kt, S.C.3    Zapf, A.4    Tummler, B.5
  • 49
    • 34547949974 scopus 로고    scopus 로고
    • Phase 2 randomized safety and efficacy trial of nebulized denufosol tetrasodium in cystic fibrosis
    • (PubMed PMID: 17446337)
    • R.R. Deterding, L.M. Lavange, J.M. Engels, D.W. Mathews, S.J. Coquillette, and A.S. Brody Phase 2 randomized safety and efficacy trial of nebulized denufosol tetrasodium in cystic fibrosis Am J Respir Crit Care Med 176 4 2007, Aug 15 362 369 (PubMed PMID: 17446337)
    • (2007) Am J Respir Crit Care Med , vol.176 , Issue.4 , pp. 362-369
    • Deterding, R.R.1    Lavange, L.M.2    Engels, J.M.3    Mathews, D.W.4    Coquillette, S.J.5    Brody, A.S.6
  • 50
    • 84867649989 scopus 로고    scopus 로고
    • The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis
    • (PubMed PMID: 23069119. Epub 2012/10/17. eng)
    • F.N. Dijk, and D.A. Fitzgerald The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis Paediatr Respir Rev 13 4 2012, Dec 220 225 (PubMed PMID: 23069119. Epub 2012/10/17. eng)
    • (2012) Paediatr Respir Rev , vol.13 , Issue.4 , pp. 220-225
    • Dijk, F.N.1    Fitzgerald, D.A.2
  • 51
    • 33847711906 scopus 로고    scopus 로고
    • Cystic fibrosis mortality and survival in the UK: 1947-2003
    • (PubMed PMID: 17182652. Epub 2006/12/22. eng)
    • J.A. Dodge, P.A. Lewis, M. Stanton, and J. Wilsher Cystic fibrosis mortality and survival in the UK: 1947-2003 Eur Respir J 29 3 2007, Mar 522 526 (PubMed PMID: 17182652. Epub 2006/12/22. eng)
    • (2007) Eur Respir J , vol.29 , Issue.3 , pp. 522-526
    • Dodge, J.A.1    Lewis, P.A.2    Stanton, M.3    Wilsher, J.4
  • 52
    • 36348979793 scopus 로고    scopus 로고
    • Sodium channels and cystic fibrosis
    • (PubMed PMID: 17998363. Epub 2007/11/14. eng)
    • S.H. Donaldson, and R.C. Boucher Sodium channels and cystic fibrosis Chest 132 5 2007, Nov 1631 1636 (PubMed PMID: 17998363. Epub 2007/11/14. eng)
    • (2007) Chest , vol.132 , Issue.5 , pp. 1631-1636
    • Donaldson, S.H.1    Boucher, R.C.2
  • 53
    • 84937977079 scopus 로고    scopus 로고
    • VX-661, an investigational CFTR corrector, in combination with ivacaftor, a CFTR potentiator, in patients with CF and homozygous for the F508Del-CFTR mutation: Interim analysis. Vol 12
    • S. Donaldson, J. Pilewski, M. Griese, Q. Dong, and P.S. Lee VX-661, an investigational CFTR corrector, in combination with ivacaftor, a CFTR potentiator, in patients with CF and homozygous for the F508Del-CFTR mutation: Interim analysis. Vol 12 J Cyst Fibros 2 Suppl. 1 2013 S14
    • (2013) J Cyst Fibros , vol.2 , pp. 14
    • Donaldson, S.1    Pilewski, J.2    Griese, M.3    Dong, Q.4    Lee, P.S.5
  • 54
    • 25844491194 scopus 로고    scopus 로고
    • Genetic modifiers of lung disease in cystic fibrosis
    • (PubMed PMID: 16207846. Epub 2005/10/07. eng)
    • M.L. Drumm, M.W. Konstan, M.D. Schluchter, A. Handler, R. Pace, and F. Zou Genetic modifiers of lung disease in cystic fibrosis N Engl J Med 353 14 2005, Oct 6 1443 1453 (PubMed PMID: 16207846. Epub 2005/10/07. eng)
    • (2005) N Engl J Med , vol.353 , Issue.14 , pp. 1443-1453
    • Drumm, M.L.1    Konstan, M.W.2    Schluchter, M.D.3    Handler, A.4    Pace, R.5    Zou, F.6
  • 56
    • 84880244509 scopus 로고    scopus 로고
    • Single-patient (n-of-1) trials: A pragmatic clinical decision methodology for patient-centered comparative effectiveness research
    • (PubMed PMID: 23849149. Epub 2013/07/17. eng)
    • N. Duan, R.L. Kravitz, and C.H. Schmid Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research J Clin Epidemiol 66 8 Suppl. 2013, Aug S21 S28 (PubMed PMID: 23849149. Epub 2013/07/17. eng)
    • (2013) J Clin Epidemiol , vol.66 , Issue.8 , pp. 21-S28
    • Duan, N.1    Kravitz, R.L.2    Schmid, C.H.3
  • 57
    • 0026316543 scopus 로고
    • Cystic fibrosis: Current survival and population estimates to the year 2000
    • (PubMed PMID: 1792634. Pubmed Central PMCID: 463492. Epub 1991/12/01. eng)
    • J.S. Elborn, D.J. Shale, and J.R. Britton Cystic fibrosis: current survival and population estimates to the year 2000 Thorax 46 12 1991, Dec 881 885 (PubMed PMID: 1792634. Pubmed Central PMCID: 463492. Epub 1991/12/01. eng)
    • (1991) Thorax , vol.46 , Issue.12 , pp. 881-885
    • Elborn, J.S.1    Shale, D.J.2    Britton, J.R.3
  • 58
    • 84880894290 scopus 로고    scopus 로고
    • Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction
    • (PubMed PMID: 23890012. Epub 2013/07/31. eng)
    • C.M. Farinha, J. King-Underwood, M. Sousa, A.R. Correia, B.J. Henriques, and M. Roxo-Rosa Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction Chem Biol 20 7 2013, Jul 25 943 955 (PubMed PMID: 23890012. Epub 2013/07/31. eng)
    • (2013) Chem Biol , vol.20 , Issue.7 , pp. 943-955
    • Farinha, C.M.1    King-Underwood, J.2    Sousa, M.3    Correia, A.R.4    Henriques, B.J.5    Roxo-Rosa, M.6
  • 59
    • 84892581676 scopus 로고    scopus 로고
    • Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy
    • (PubMed PMID: 24349052. Pubmed Central PMCID: 3859499. Epub 2013/12/19. eng)
    • R.S. Finkel, K.M. Flanigan, B. Wong, C. Bonnemann, J. Sampson, and H.L. Sweeney Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy PLoS One 8 12 2013 e81302 (PubMed PMID: 24349052. Pubmed Central PMCID: 3859499. Epub 2013/12/19. eng)
    • (2013) PLoS One , vol.8 , Issue.12 , pp. 81302
    • Finkel, R.S.1    Flanigan, K.M.2    Wong, B.3    Bonnemann, C.4    Sampson, J.5    Sweeney, H.L.6
  • 60
    • 84865853894 scopus 로고    scopus 로고
    • Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
    • (PubMed PMID: 22383668. Pubmed Central PMCID: 3435140. Epub 2012/03/03. eng)
    • P.A. Flume, T.G. Liou, D.S. Borowitz, H. Li, K. Yen, and C.L. Ordonez Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation Chest 142 3 2012, Sep 718 724 (PubMed PMID: 22383668. Pubmed Central PMCID: 3435140. Epub 2012/03/03. eng)
    • (2012) Chest , vol.142 , Issue.3 , pp. 718-724
    • Flume, P.A.1    Liou, T.G.2    Borowitz, D.S.3    Li, H.4    Yen, K.5    Ordonez, C.L.6
  • 61
    • 79957795976 scopus 로고    scopus 로고
    • Social contexts, social media, and human subjects research
    • (PubMed PMID: 21534149. Epub 2011/05/03. eng)
    • M. Foulkes Social contexts, social media, and human subjects research Am J Bioeth 11 5 2011, May 35 36 (PubMed PMID: 21534149. Epub 2011/05/03. eng)
    • (2011) Am J Bioeth , vol.11 , Issue.5 , pp. 35-36
    • Foulkes, M.1
  • 62
    • 58149494794 scopus 로고    scopus 로고
    • Novel human bronchial epithelial cell lines for cystic fibrosis research
    • (PubMed PMID: 18978040. Pubmed Central PMCID: 2636952. Epub 2008/11/04. eng)
    • M.L. Fulcher, S.E. Gabriel, J.C. Olsen, J.R. Tatreau, M. Gentzsch, and E. Livanos Novel human bronchial epithelial cell lines for cystic fibrosis research Am J Physiol Lung Cell Mol Physiol 296 1 2009, Jan L82 L91 (PubMed PMID: 18978040. Pubmed Central PMCID: 2636952. Epub 2008/11/04. eng)
    • (2009) Am J Physiol Lung Cell Mol Physiol , vol.296 , Issue.1 , pp. 82-L91
    • Fulcher, M.L.1    Gabriel, S.E.2    Olsen, J.C.3    Tatreau, J.R.4    Gentzsch, M.5    Livanos, E.6
  • 63
    • 84879264708 scopus 로고    scopus 로고
    • ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
    • (PubMed PMID: 23664777. Pubmed Central PMCID: 3694601. Epub 2013/05/15. eng)
    • T. Gaj, C.A. Gersbach, and C.F. Barbas III ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering Trends Biotechnol 31 7 2013, Jul 397 405 (PubMed PMID: 23664777. Pubmed Central PMCID: 3694601. Epub 2013/05/15. eng)
    • (2013) Trends Biotechnol , vol.31 , Issue.7 , pp. 397-405
    • Gaj, T.1    Gersbach, C.A.2    Barbas, C.F.3
  • 64
    • 84880262056 scopus 로고    scopus 로고
    • New antibiotics for paediatric use: A review of a decade of regulatory trials submitted to the European Medicines Agency from 2000 - Why aren't we doing better?
    • (PubMed PMID: 23810180. Epub 2013/07/03. eng)
    • S. Garazzino, I. Lutsar, C. Bertaina, P.A. Tovo, and M. Sharland New antibiotics for paediatric use: a review of a decade of regulatory trials submitted to the European Medicines Agency from 2000 - why aren't we doing better? Int J Antimicrob Agents 42 2 2013, Aug 99 118 (PubMed PMID: 23810180. Epub 2013/07/03. eng)
    • (2013) Int J Antimicrob Agents , vol.42 , Issue.2 , pp. 99-118
    • Garazzino, S.1    Lutsar, I.2    Bertaina, C.3    Tovo, P.A.4    Sharland, M.5
  • 65
    • 79952522208 scopus 로고    scopus 로고
    • Improved survival at low lung function in cystic fibrosis: Cohort study from 1990 to 2007
    • (PubMed PMID: 21357627. eng)
    • P.M. George, W. Banya, N. Pareek, D. Bilton, P. Cullinan, and M.E. Hodson Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007 BMJ 342 2010 d1008 (PubMed PMID: 21357627. eng)
    • (2010) BMJ , vol.342 , pp. 1008
    • George, P.M.1    Banya, W.2    Pareek, N.3    Bilton, D.4    Cullinan, P.5    Hodson, M.E.6
  • 66
    • 0025912486 scopus 로고
    • Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
    • (PubMed PMID: 1712898. Pubmed Central PMCID: 361177. Epub 1991/08/01. eng)
    • R.J. Gregory, D.P. Rich, S.H. Cheng, D.W. Souza, S. Paul, and P. Manavalan Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2 Mol Cell Biol 11 8 1991, Aug 3886 3893 (PubMed PMID: 1712898. Pubmed Central PMCID: 361177. Epub 1991/08/01. eng)
    • (1991) Mol Cell Biol , vol.11 , Issue.8 , pp. 3886-3893
    • Gregory, R.J.1    Rich, D.P.2    Cheng, S.H.3    Souza, D.W.4    Paul, S.5    Manavalan, P.6
  • 67
    • 84868266593 scopus 로고    scopus 로고
    • Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy
    • (PubMed PMID: 22955314. Pubmed Central PMCID: 3530223. Epub 2012/09/08. eng)
    • U. Griesenbach, M. Inoue, C. Meng, R. Farley, M. Chan, and N.K. Newman Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy Am J Respir Crit Care Med 186 9 2012, Nov 1 846 856 (PubMed PMID: 22955314. Pubmed Central PMCID: 3530223. Epub 2012/09/08. eng)
    • (2012) Am J Respir Crit Care Med , vol.186 , Issue.9 , pp. 846-856
    • Griesenbach, U.1    Inoue, M.2    Meng, C.3    Farley, R.4    Chan, M.5    Newman, N.K.6
  • 68
    • 84934438921 scopus 로고    scopus 로고
    • Assessment of CFTR function after gene transfer in vitro and in vivo
    • (PubMed PMID: 18679627. Epub 2008/08/06. eng)
    • U. Griesenbach, F.M. Munkonge, S. Sumner-Jones, E. Holder, S.N. Smith, and A.C. Boyd Assessment of CFTR function after gene transfer in vitro and in vivo Methods Mol Biol 433 2008 229 242 (PubMed PMID: 18679627. Epub 2008/08/06. eng)
    • (2008) Methods Mol Biol , vol.433 , pp. 229-242
    • Griesenbach, U.1    Munkonge, F.M.2    Sumner-Jones, S.3    Holder, E.4    Smith, S.N.5    Boyd, A.C.6
  • 70
    • 84873436500 scopus 로고    scopus 로고
    • Correctors of DeltaF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein
    • (PubMed PMID: 23104983. Pubmed Central PMCID: 3545534. Epub 2012/10/30. eng)
    • L. He, P. Kota, A.A. Aleksandrov, L. Cui, T. Jensen, and N.V. Dokholyan Correctors of DeltaF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein FASEB J 27 2 2013, Feb 536 545 (PubMed PMID: 23104983. Pubmed Central PMCID: 3545534. Epub 2012/10/30. eng)
    • (2013) FASEB J , vol.27 , Issue.2 , pp. 536-545
    • He, L.1    Kota, P.2    Aleksandrov, A.A.3    Cui, L.4    Jensen, T.5    Dokholyan, N.V.6
  • 71
    • 84888059709 scopus 로고    scopus 로고
    • Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation
    • (PubMed PMID: 23757359. Epub 2013/06/13. eng)
    • H. Hebestreit, A. Sauer-Heilborn, R. Fischer, M. Kading, and J.G. Mainz Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation J Cyst Fibros 12 6 2013, Dec 599 603 (PubMed PMID: 23757359. Epub 2013/06/13. eng)
    • (2013) J Cyst Fibros , vol.12 , Issue.6 , pp. 599-603
    • Hebestreit, H.1    Sauer-Heilborn, A.2    Fischer, R.3    Kading, M.4    Mainz, J.G.5
  • 72
    • 33745838632 scopus 로고    scopus 로고
    • Design, synthesis, and structure-activity relationships of novel 2-substituted pyrazinoylguanidine epithelial sodium channel blockers: Drugs for cystic fibrosis and chronic bronchitis
    • (PubMed PMID: 16821771. Epub 2006/07/11. eng)
    • A.J. Hirsh, B.F. Molino, J. Zhang, N. Astakhova, W.B. Geiss, and B.J. Sargent Design, synthesis, and structure-activity relationships of novel 2-substituted pyrazinoylguanidine epithelial sodium channel blockers: drugs for cystic fibrosis and chronic bronchitis J Med Chem 49 14 2006, Jul 13 4098 4115 (PubMed PMID: 16821771. Epub 2006/07/11. eng)
    • (2006) J Med Chem , vol.49 , Issue.14 , pp. 4098-4115
    • Hirsh, A.J.1    Molino, B.F.2    Zhang, J.3    Astakhova, N.4    Geiss, W.B.5    Sargent, B.J.6
  • 73
    • 5144232620 scopus 로고    scopus 로고
    • CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis
    • (PubMed PMID: 15480987. Epub 2004/10/14. eng)
    • S. Hirtz, T. Gonska, H.H. Seydewitz, J. Thomas, P. Greiner, and J. Kuehr CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis Gastroenterology 127 4 2004, Oct 1085 1095 (PubMed PMID: 15480987. Epub 2004/10/14. eng)
    • (2004) Gastroenterology , vol.127 , Issue.4 , pp. 1085-1095
    • Hirtz, S.1    Gonska, T.2    Seydewitz, H.H.3    Thomas, J.4    Greiner, P.5    Kuehr, J.6
  • 74
    • 55549136375 scopus 로고    scopus 로고
    • An international/multicentre report on patients with cystic fibrosis (CF) over the age of 40 years
    • (PubMed PMID: 18715831. eng)
    • M.E. Hodson, N.J. Simmonds, W.J. Warwick, E. Tullis, C. Castellani, and B. Assael An international/multicentre report on patients with cystic fibrosis (CF) over the age of 40 years J Cyst Fibros 7 6 2008, Nov 537 542 (PubMed PMID: 18715831. eng)
    • (2008) J Cyst Fibros , vol.7 , Issue.6 , pp. 537-542
    • Hodson, M.E.1    Simmonds, N.J.2    Warwick, W.J.3    Tullis, E.4    Castellani, C.5    Assael, B.6
  • 75
    • 84895072581 scopus 로고    scopus 로고
    • Effects of nutritional status and dietetic interventions on survival in cystic fibrosis patients before and after lung transplantation
    • (PubMed PMID: 24041590. Epub 2013/09/18. eng)
    • F.M. Hollander, DD van Pierre, NM de Roos, EA van de Graaf, and JA Iestra Effects of nutritional status and dietetic interventions on survival in cystic fibrosis patients before and after lung transplantation J Cyst Fibros 13 2 2014, Mar 212 218 (PubMed PMID: 24041590. Epub 2013/09/18. eng)
    • (2014) J Cyst Fibros , vol.13 , Issue.2 , pp. 212-218
    • Hollander, F.M.1    Van Pierre, D.D.2    De Roos, N.M.3    Van De Graaf, E.A.4    Iestra, J.A.5
  • 76
    • 84918805962 scopus 로고    scopus 로고
    • Available from: http://investors.vrtx.com/releasedetail.cfm?Releaseid=827435
  • 77
    • 84918774855 scopus 로고    scopus 로고
    • Available from: http://investors.vrtx.com/releasesArchive.cfm?Year=&ReleasesType=&PageNum=2 2014, February 23
    • (2014)
  • 78
    • 0037252230 scopus 로고    scopus 로고
    • Factors influencing outcomes in cystic fibrosis: A center-based analysis
    • (PubMed PMID: 12527598. Epub 2003/01/16. eng)
    • C. Johnson, S.M. Butler, M.W. Konstan, W. Morgan, and M.E. Wohl Factors influencing outcomes in cystic fibrosis: a center-based analysis Chest 123 1 2003, Jan 20 27 (PubMed PMID: 12527598. Epub 2003/01/16. eng)
    • (2003) Chest , vol.123 , Issue.1 , pp. 20-27
    • Johnson, C.1    Butler, S.M.2    Konstan, M.W.3    Morgan, W.4    Wohl, M.E.5
  • 79
    • 84871959313 scopus 로고    scopus 로고
    • Dynamic modulation of ANO1/TMEM16A HCO3(-) permeability by Ca2+/calmodulin
    • (PubMed PMID: 23248295. Pubmed Central PMCID: 3538232. Epub 2012/12/19. eng)
    • J. Jung, J.H. Nam, H.W. Park, U. Oh, J.H. Yoon, and M.G. Lee Dynamic modulation of ANO1/TMEM16A HCO3(-) permeability by Ca2+/calmodulin Proc Natl Acad Sci U S A 110 1 2013, Jan 2 360 365 (PubMed PMID: 23248295. Pubmed Central PMCID: 3538232. Epub 2012/12/19. eng)
    • (2013) Proc Natl Acad Sci U S A , vol.110 , Issue.1 , pp. 360-365
    • Jung, J.1    Nam, J.H.2    Park, H.W.3    Oh, U.4    Yoon, J.H.5    Lee, M.G.6
  • 80
    • 84895069609 scopus 로고    scopus 로고
    • Lung clearance index: Evidence for use in clinical trials in cystic fibrosis
    • (PubMed PMID: 24315208. Epub 2013/12/10. Eng)
    • L. Kent, P. Reix, J.A. Innes, S. Zielen, and Braggion C. Le BM Lung clearance index: evidence for use in clinical trials in cystic fibrosis J Cyst Fibros 13 2 2014, Mar 123 138 (PubMed PMID: 24315208. Epub 2013/12/10. Eng)
    • (2014) J Cyst Fibros , vol.13 , Issue.2 , pp. 123-138
    • Kent, L.1    Reix, P.2    Innes, J.A.3    Zielen, S.4    Le Bm, B.C.5
  • 81
    • 0025099495 scopus 로고
    • Sequential pulmonary function measurements during treatment of infantile chronic interstitial pneumonitis
    • (PubMed PMID: 2295964. Epub 1990/01/01. eng)
    • E. Kerem, L. Bentur, S. England, J. Reisman, H. O'Brodovich, and A.C. Bryan Sequential pulmonary function measurements during treatment of infantile chronic interstitial pneumonitis J Pediatr 116 1 1990, Jan 61 67 (PubMed PMID: 2295964. Epub 1990/01/01. eng)
    • (1990) J Pediatr , vol.116 , Issue.1 , pp. 61-67
    • Kerem, E.1    Bentur, L.2    England, S.3    Reisman, J.4    O'Brodovich, H.5    Bryan, A.C.6
  • 82
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis - Analysis of the most common mutation (delta F508)
    • (PubMed PMID: 2233932. Epub 1990/11/29. eng)
    • E. Kerem, M. Corey, B.S. Kerem, J. Rommens, D. Markiewicz, and H. Levison The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (delta F508) N Engl J Med 323 22 1990, Nov 29 1517 1522 (PubMed PMID: 2233932. Epub 1990/11/29. eng)
    • (1990) N Engl J Med , vol.323 , Issue.22 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3    Rommens, J.4    Markiewicz, D.5    Levison, H.6
  • 83
    • 50149098401 scopus 로고    scopus 로고
    • Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: A prospective phase II trial
    • (PubMed PMID: 18722008. Epub 2008/08/30. eng)
    • E. Kerem, S. Hirawat, S. Armoni, Y. Yaakov, D. Shoseyov, and M. Cohen Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial Lancet 372 9640 2008, Aug 30 719 727 (PubMed PMID: 18722008. Epub 2008/08/30. eng)
    • (2008) Lancet , vol.372 , Issue.9640 , pp. 719-727
    • Kerem, E.1    Hirawat, S.2    Armoni, S.3    Yaakov, Y.4    Shoseyov, D.5    Cohen, M.6
  • 84
    • 84904016376 scopus 로고    scopus 로고
    • Ataluren for the treatment of nonsense-mutation cystic fibrosis: A randomised, double-blind, placebo-controlled phase 3 trial
    • (PubMed PMID: 24836205)
    • E. Kerem, M.W. Konstan, K. De Boeck, F.J. Accurso, I. Sermet-Gaudelus, and M. Wilschanski Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial The Lancet Respiratory Medicine 2 7 2014, May 15 539 547 10.1016/S2213-2600(14)70100-6 (PubMed PMID: 24836205)
    • (2014) The Lancet Respiratory Medicine , vol.2 , Issue.7 , pp. 539-547
    • Kerem, E.1    Konstan, M.W.2    De Boeck, K.3    Accurso, F.J.4    Sermet-Gaudelus, I.5    Wilschanski, M.6
  • 85
    • 76649115593 scopus 로고    scopus 로고
    • Genetic modification of pigs as organ donors for xenotransplantation
    • (PubMed PMID: 19998476. Epub 2009/12/10. eng)
    • N. Klymiuk, B. Aigner, G. Brem, and E. Wolf Genetic modification of pigs as organ donors for xenotransplantation Mol Reprod Dev 77 3 2010, Mar 209 221 (PubMed PMID: 19998476. Epub 2009/12/10. eng)
    • (2010) Mol Reprod Dev , vol.77 , Issue.3 , pp. 209-221
    • Klymiuk, N.1    Aigner, B.2    Brem, G.3    Wolf, E.4
  • 86
    • 0025236867 scopus 로고
    • A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis
    • (PubMed PMID: 2157983. Epub 1990/04/26. eng)
    • M.R. Knowles, N.L. Church, W.E. Waltner, J.R. Yankaskas, P. Gilligan, and M. King A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis N Engl J Med 322 17 1990, Apr 26 1189 1194 (PubMed PMID: 2157983. Epub 1990/04/26. eng)
    • (1990) N Engl J Med , vol.322 , Issue.17 , pp. 1189-1194
    • Knowles, M.R.1    Church, N.L.2    Waltner, W.E.3    Yankaskas, J.R.4    Gilligan, P.5    King, M.6
  • 88
    • 84864521244 scopus 로고    scopus 로고
    • Airway epithelial cells - Functional links between CFTR and anoctamin dependent Cl- secretion
    • (PubMed PMID: 22710346. Epub 2012/06/20. eng)
    • K. Kunzelmann, Y. Tian, J.R. Martins, D. Faria, P. Kongsuphol, and J. Ousingsawat Airway epithelial cells - functional links between CFTR and anoctamin dependent Cl- secretion Int J Biochem Cell Biol 44 11 2012, Nov 1897 1900 (PubMed PMID: 22710346. Epub 2012/06/20. eng)
    • (2012) Int J Biochem Cell Biol , vol.44 , Issue.11 , pp. 1897-1900
    • Kunzelmann, K.1    Tian, Y.2    Martins, J.R.3    Faria, D.4    Kongsuphol, P.5    Ousingsawat, J.6
  • 89
    • 27544472925 scopus 로고    scopus 로고
    • Bacterial transfer of large functional genomic DNA into human cells
    • (PubMed PMID: 15973438. Epub 2005/06/24. eng)
    • A. Laner, S. Goussard, A.S. Ramalho, T. Schwarz, M.D. Amaral, and P. Courvalin Bacterial transfer of large functional genomic DNA into human cells Gene Ther 12 21 2005, Nov 1559 1572 (PubMed PMID: 15973438. Epub 2005/06/24. eng)
    • (2005) Gene Ther , vol.12 , Issue.21 , pp. 1559-1572
    • Laner, A.1    Goussard, S.2    Ramalho, A.S.3    Schwarz, T.4    Amaral, M.D.5    Courvalin, P.6
  • 90
    • 0032213528 scopus 로고    scopus 로고
    • Regulation of murine cystic fibrosis transmembrane conductance regulator Cl- channels expressed in Chinese hamster ovary cells
    • (PubMed PMID: 9769419. Pubmed Central PMCID: 2231228. Epub 1998/10/14. eng)
    • K.A. Lansdell, J.F. Kidd, S.J. Delaney, B.J. Wainwright, and D.N. Sheppard Regulation of murine cystic fibrosis transmembrane conductance regulator Cl- channels expressed in Chinese hamster ovary cells J Physiol 512 Pt 3 1998, Nov 1 751 764 (PubMed PMID: 9769419. Pubmed Central PMCID: 2231228. Epub 1998/10/14. eng)
    • (1998) J Physiol , vol.512 , pp. 751-764
    • Lansdell, K.A.1    Kidd, J.F.2    Delaney, S.J.3    Wainwright, B.J.4    Sheppard, D.N.5
  • 91
    • 57649176886 scopus 로고    scopus 로고
    • Early referral to cystic fibrosis specialist centre impacts on respiratory outcome
    • (PubMed PMID: 18838309. Epub 2008/10/08. eng)
    • P. Lebecque, A. Leonard, K. De Boeck, F. De Baets, A. Malfroot, and G. Casimir Early referral to cystic fibrosis specialist centre impacts on respiratory outcome J Cyst Fibros 8 1 2009, Jan 26 30 (PubMed PMID: 18838309. Epub 2008/10/08. eng)
    • (2009) J Cyst Fibros , vol.8 , Issue.1 , pp. 26-30
    • Lebecque, P.1    Leonard, A.2    De Boeck, K.3    De Baets, F.4    Malfroot, A.5    Casimir, G.6
  • 92
    • 1642515022 scopus 로고    scopus 로고
    • Reduction in prevalence of chronic Pseudomonas aeruginosa infection at a regional pediatric cystic fibrosis center
    • (PubMed PMID: 14730654. Epub 2004/01/20. eng)
    • T.W. Lee, K.G. Brownlee, M. Denton, J.M. Littlewood, and S.P. Conway Reduction in prevalence of chronic Pseudomonas aeruginosa infection at a regional pediatric cystic fibrosis center Pediatr Pulmonol 37 2 2004, Feb 104 110 (PubMed PMID: 14730654. Epub 2004/01/20. eng)
    • (2004) Pediatr Pulmonol , vol.37 , Issue.2 , pp. 104-110
    • Lee, T.W.1    Brownlee, K.G.2    Denton, M.3    Littlewood, J.M.4    Conway, S.P.5
  • 93
    • 78349300552 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis in Alberta: Two years of experience
    • (PubMed PMID: 22043142. Pubmed Central PMCID: 3009566. Epub 2011/11/02. eng)
    • M. Lilley, S. Christian, S. Hume, P. Scott, M. Montgomery, and L. Semple Newborn screening for cystic fibrosis in Alberta: two years of experience Pediatr Child Health 15 9 2010, Nov 590 594 (PubMed PMID: 22043142. Pubmed Central PMCID: 3009566. Epub 2011/11/02. eng)
    • (2010) Pediatr Child Health , vol.15 , Issue.9 , pp. 590-594
    • Lilley, M.1    Christian, S.2    Hume, S.3    Scott, P.4    Montgomery, M.5    Semple, L.6
  • 94
    • 79952590347 scopus 로고    scopus 로고
    • The n-of-1 clinical trial: The ultimate strategy for individualizing medicine?
    • (PubMed PMID: 21695041. Pubmed Central PMCID: 3118090. Epub 2011/06/23. Eng)
    • E.O. Lillie, B. Patay, J. Diamant, B. Issell, E.J. Topol, and N.J. Schork The n-of-1 clinical trial: the ultimate strategy for individualizing medicine? Per Med 8 2 2011, Mar 161 173 (PubMed PMID: 21695041. Pubmed Central PMCID: 3118090. Epub 2011/06/23. Eng)
    • (2011) Per Med , vol.8 , Issue.2 , pp. 161-173
    • Lillie, E.O.1    Patay, B.2    Diamant, J.3    Issell, B.4    Topol, E.J.5    Schork, N.J.6
  • 95
    • 77953913894 scopus 로고    scopus 로고
    • Year-to-year changes in lung function in individuals with cystic fibrosis
    • (PubMed PMID: 20471331. Epub 2010/05/18. eng)
    • T.G. Liou, E.P. Elkin, D.J. Pasta, J.R. Jacobs, M.W. Konstan, and W.J. Morgan Year-to-year changes in lung function in individuals with cystic fibrosis J Cyst Fibros 9 4 2010, Jul 250 256 (PubMed PMID: 20471331. Epub 2010/05/18. eng)
    • (2010) J Cyst Fibros , vol.9 , Issue.4 , pp. 250-256
    • Liou, T.G.1    Elkin, E.P.2    Pasta, D.J.3    Jacobs, J.R.4    Konstan, M.W.5    Morgan, W.J.6
  • 96
    • 84881548421 scopus 로고    scopus 로고
    • Lung transplant outcomes in cystic fibrosis patients with pre-operative Mycobacterium abscessus respiratory infections
    • (PubMed PMID: 23710571. Epub 2013/05/29. eng)
    • L.J. Lobo, L.C. Chang, C.R. Esther Jr., P.H. Gilligan, Z. Tulu, and P.G. Noone Lung transplant outcomes in cystic fibrosis patients with pre-operative Mycobacterium abscessus respiratory infections Clin Transplant 27 4 2013, Jul-Aug 523 529 (PubMed PMID: 23710571. Epub 2013/05/29. eng)
    • (2013) Clin Transplant , vol.27 , Issue.4 , pp. 523-529
    • Lobo, L.J.1    Chang, L.C.2    Esther, C.R.3    Gilligan, P.H.4    Tulu, Z.5    Noone, P.G.6
  • 97
    • 0036896008 scopus 로고    scopus 로고
    • Thiazolidinone CFTR inhibitor identified by high-throughput screening blocks cholera toxin-induced intestinal fluid secretion
    • (PubMed PMID: 12464670. Pubmed Central PMCID: 151633. Epub 2002/12/05. eng)
    • T. Ma, J.R. Thiagarajah, H. Yang, N.D. Sonawane, C. Folli, and L.J. Galietta Thiazolidinone CFTR inhibitor identified by high-throughput screening blocks cholera toxin-induced intestinal fluid secretion J Clin Invest 110 11 2002, Dec 1651 1658 (PubMed PMID: 12464670. Pubmed Central PMCID: 151633. Epub 2002/12/05. eng)
    • (2002) J Clin Invest , vol.110 , Issue.11 , pp. 1651-1658
    • Ma, T.1    Thiagarajah, J.R.2    Yang, H.3    Sonawane, N.D.4    Folli, C.5    Galietta, L.J.6
  • 98
    • 0032513942 scopus 로고    scopus 로고
    • Clinical outcome in relation to care in centres specialising in cystic fibrosis: Cross sectional study
    • (PubMed PMID: 9624062. Pubmed Central PMCID: 28574. Epub 1998/06/24. eng)
    • R. Mahadeva, K. Webb, R.C. Westerbeek, N.R. Carroll, M.E. Dodd, and D. Bilton Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study BMJ 316 7147 1998, Jun 13 1771 1775 (PubMed PMID: 9624062. Pubmed Central PMCID: 28574. Epub 1998/06/24. eng)
    • (1998) BMJ , vol.316 , Issue.7147 , pp. 1771-1775
    • Mahadeva, R.1    Webb, K.2    Westerbeek, R.C.3    Carroll, N.R.4    Dodd, M.E.5    Bilton, D.6
  • 99
    • 84873734105 scopus 로고    scopus 로고
    • RNA-guided human genome engineering via Cas9
    • (PubMed PMID: 23287722. Pubmed Central PMCID: 3712628. Epub 2013/01/05. eng)
    • P. Mali, L. Yang, K.M. Esvelt, J. Aach, M. Guell, and J.E. DiCarlo RNA-guided human genome engineering via Cas9 Science 339 6121 2013, Feb 15 823 826 (PubMed PMID: 23287722. Pubmed Central PMCID: 3712628. Epub 2013/01/05. eng)
    • (2013) Science , vol.339 , Issue.6121 , pp. 823-826
    • Mali, P.1    Yang, L.2    Esvelt, K.M.3    Aach, J.4    Guell, M.5    Dicarlo, J.E.6
  • 100
    • 0032127980 scopus 로고    scopus 로고
    • The amiloride-inhibitable Na+ conductance is reduced by the cystic fibrosis transmembrane conductance regulator in normal but not in cystic fibrosis airways
    • (PubMed PMID: 9649552. Pubmed Central PMCID: 509060. Epub 1998/07/03. eng)
    • M. Mall, M. Bleich, R. Greger, R. Schreiber, and K. Kunzelmann The amiloride-inhibitable Na+ conductance is reduced by the cystic fibrosis transmembrane conductance regulator in normal but not in cystic fibrosis airways J Clin Invest 102 1 1998, Jul 1 15 21 (PubMed PMID: 9649552. Pubmed Central PMCID: 509060. Epub 1998/07/03. eng)
    • (1998) J Clin Invest , vol.102 , Issue.1 , pp. 15-21
    • Mall, M.1    Bleich, M.2    Greger, R.3    Schreiber, R.4    Kunzelmann, K.5
  • 101
    • 81055126222 scopus 로고    scopus 로고
    • Anoctamin 6 is an essential component of the outwardly rectifying chloride channel
    • (PubMed PMID: 22006324. Pubmed Central PMCID: 3207678. Epub 2011/10/19. eng)
    • J.R. Martins, D. Faria, P. Kongsuphol, B. Reisch, R. Schreiber, and K. Kunzelmann Anoctamin 6 is an essential component of the outwardly rectifying chloride channel Proc Natl Acad Sci U S A 108 44 2011, Nov 1 18168 18172 (PubMed PMID: 22006324. Pubmed Central PMCID: 3207678. Epub 2011/10/19. eng)
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.44 , pp. 18168-18172
    • Martins, J.R.1    Faria, D.2    Kongsuphol, P.3    Reisch, B.4    Schreiber, R.5    Kunzelmann, K.6
  • 102
    • 84884138505 scopus 로고    scopus 로고
    • Standard care versus protocol based therapy for new onset Pseudomonas aeruginosa in cystic fibrosis
    • (PubMed PMID: 23818295. Epub 2013/07/03. eng)
    • N. Mayer-Hamblett, M. Rosenfeld, M.M. Treggiari, M.W. Konstan, G. Retsch-Bogart, and W. Morgan Standard care versus protocol based therapy for new onset Pseudomonas aeruginosa in cystic fibrosis Pediatr Pulmonol 48 10 2013, Oct 943 953 (PubMed PMID: 23818295. Epub 2013/07/03. eng)
    • (2013) Pediatr Pulmonol , vol.48 , Issue.10 , pp. 943-953
    • Mayer-Hamblett, N.1    Rosenfeld, M.2    Treggiari, M.M.3    Konstan, M.W.4    Retsch-Bogart, G.5    Morgan, W.6
  • 103
    • 77949728437 scopus 로고    scopus 로고
    • Comparative demographics of the European cystic fibrosis population: A cross-sectional database analysis
    • (PubMed PMID: 20304245. eng)
    • J. McCormick, G. Mehta, H.V. Olesen, L. Viviani, M. Macek Jr., and A. Mehta Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis Lancet 375 9719 2010, Mar 20 1007 1013 (PubMed PMID: 20304245. eng)
    • (2010) Lancet , vol.375 , Issue.9719 , pp. 1007-1013
    • McCormick, J.1    Mehta, G.2    Olesen, H.V.3    Viviani, L.4    MacEk, M.5    Mehta, A.6
  • 104
    • 84905725749 scopus 로고    scopus 로고
    • Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the G551d-CFTR mutation: Response through 144 weeks of treatment (96 weeks of PERSIST)
    • E.F. McKone, D. Borowitz, P. Drevinek, M. Griese, M.W. Konstan, and C. Wainwright Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the G551d-CFTR mutation: response through 144 weeks of treatment (96 weeks of PERSIST) Pediatr Pulmonol 48 S36 2013 287
    • (2013) Pediatr Pulmonol , vol.48 , Issue.S36 , pp. 287
    • McKone, E.F.1    Borowitz, D.2    Drevinek, P.3    Griese, M.4    Konstan, M.W.5    Wainwright, C.6
  • 105
    • 49149109868 scopus 로고    scopus 로고
    • Outcomes of lung transplantation for cystic fibrosis in a large UK cohort
    • (PubMed PMID: 18487317. Epub 2008/05/20. eng)
    • G. Meachery, S.A. De, A. Nicholson, G. Parry, A. Hasan, and K. Tocewicz Outcomes of lung transplantation for cystic fibrosis in a large UK cohort Thorax 63 8 2008, Aug 725 731 (PubMed PMID: 18487317. Epub 2008/05/20. eng)
    • (2008) Thorax , vol.63 , Issue.8 , pp. 725-731
    • Meachery, G.1    De, S.A.2    Nicholson, A.3    Parry, G.4    Hasan, A.5    Tocewicz, K.6
  • 106
    • 0242577536 scopus 로고    scopus 로고
    • Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein
    • (PubMed PMID: 14623323. Epub 2003/11/19. eng)
    • F. Mendes, R.M. Roxo, A. Dragomir, C.M. Farinha, G.M. Roomans, and M.D. Amaral Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein Biochem Biophys Res Commun 311 3 2003, Nov 21 665 671 (PubMed PMID: 14623323. Epub 2003/11/19. eng)
    • (2003) Biochem Biophys Res Commun , vol.311 , Issue.3 , pp. 665-671
    • Mendes, F.1    Roxo, R.M.2    Dragomir, A.3    Farinha, C.M.4    Roomans, G.M.5    Amaral, M.D.6
  • 107
    • 84874094442 scopus 로고    scopus 로고
    • HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR
    • (PubMed PMID: 23148778. Epub 2012/11/15. eng)
    • S. Moniz, M. Sousa, B.J. Moraes, A.I. Mendes, M. Palma, and C. Barreto HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR ACS Chem Biol 8 2 2013, Feb 15 432 442 (PubMed PMID: 23148778. Epub 2012/11/15. eng)
    • (2013) ACS Chem Biol , vol.8 , Issue.2 , pp. 432-442
    • Moniz, S.1    Sousa, M.2    Moraes, B.J.3    Mendes, A.I.4    Palma, M.5    Barreto, C.6
  • 108
    • 84886809483 scopus 로고    scopus 로고
    • Stem cells: A recapitulation of development
    • (PubMed PMID: 24033442. Epub 2013/09/17. eng)
    • Y. Moodley, P. Thompson, and D. Warburton Stem cells: a recapitulation of development Respirology 18 8 2013, Nov 1167 1176 (PubMed PMID: 24033442. Epub 2013/09/17. eng)
    • (2013) Respirology , vol.18 , Issue.8 , pp. 1167-1176
    • Moodley, Y.1    Thompson, P.2    Warburton, D.3
  • 109
    • 21844448588 scopus 로고    scopus 로고
    • A quantitative description of the activation and inhibition of CFTR by potentiators: Genistein
    • (PubMed PMID: 15996659. Epub 2005/07/06. eng)
    • O. Moran, and O. Zegarra-Moran A quantitative description of the activation and inhibition of CFTR by potentiators: genistein FEBS Lett 579 18 2005, Jul 18 3979 3983 (PubMed PMID: 15996659. Epub 2005/07/06. eng)
    • (2005) FEBS Lett , vol.579 , Issue.18 , pp. 3979-3983
    • Moran, O.1    Zegarra-Moran, O.2
  • 110
    • 84862776813 scopus 로고    scopus 로고
    • Progression of early structural lung disease in young children with cystic fibrosis assessed using CT
    • (PubMed PMID: 22201161. Epub 2011/12/28. eng)
    • L.S. Mott, J. Park, C.P. Murray, C.L. Gangell, K.N.H. de, and P.J. Robinson Progression of early structural lung disease in young children with cystic fibrosis assessed using CT Thorax 67 6 2012, Jun 509 516 (PubMed PMID: 22201161. Epub 2011/12/28. eng)
    • (2012) Thorax , vol.67 , Issue.6 , pp. 509-516
    • Mott, L.S.1    Park, J.2    Murray, C.P.3    Gangell, C.L.4    De, K.N.H.5    Robinson, P.J.6
  • 111
    • 84925610963 scopus 로고    scopus 로고
    • Cell therapy for cystic fibrosis
    • (PubMed PMID: 23894126. Epub 2013/07/31. Eng)
    • S.V. Murphy, and A. Atala Cell therapy for cystic fibrosis J Tissue Eng Regen Med 2013 10.1002/term.1746 (PubMed PMID: 23894126. Epub 2013/07/31. Eng)
    • (2013) J Tissue Eng Regen Med
    • Murphy, S.V.1    Atala, A.2
  • 112
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • (PubMed PMID: 11256068. Epub 2001/03/21. eng)
    • J.H. Nadeau Modifier genes in mice and humans Nat Rev Genet 2 3 2001, Mar 165 174 (PubMed PMID: 11256068. Epub 2001/03/21. eng)
    • (2001) Nat Rev Genet , vol.2 , Issue.3 , pp. 165-174
    • Nadeau, J.H.1
  • 113
    • 84879410121 scopus 로고    scopus 로고
    • Mechanism-based corrector combination restores DeltaF508-CFTR folding and function
    • (PubMed PMID: 23666117. Pubmed Central PMCID: 3840170. Epub 2013/05/15. eng)
    • T. Okiyoneda, G. Veit, J.F. Dekkers, M. Bagdany, N. Soya, and H. Xu Mechanism-based corrector combination restores DeltaF508-CFTR folding and function Nat Chem Biol 9 7 2013, Jul 444 454 (PubMed PMID: 23666117. Pubmed Central PMCID: 3840170. Epub 2013/05/15. eng)
    • (2013) Nat Chem Biol , vol.9 , Issue.7 , pp. 444-454
    • Okiyoneda, T.1    Veit, G.2    Dekkers, J.F.3    Bagdany, M.4    Soya, N.5    Xu, H.6
  • 114
    • 0027379757 scopus 로고
    • A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus
    • (PubMed PMID: 7505691. Epub 1993/10/01. eng)
    • W.K. O'Neal, P. Hasty, P.B. McCray Jr., B. Casey, J. Rivera-Perez, and M.J. Welsh A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus Hum Mol Genet 2 10 1993, Oct 1561 1569 (PubMed PMID: 7505691. Epub 1993/10/01. eng)
    • (1993) Hum Mol Genet , vol.2 , Issue.10 , pp. 1561-1569
    • O'Neal, W.K.1    Hasty, P.2    McCray, P.B.3    Casey, B.4    Rivera-Perez, J.5    Welsh, M.J.6
  • 115
    • 79960026348 scopus 로고    scopus 로고
    • Excitement mounts for first disease-modifying cystic fibrosis drugs
    • (PubMed PMID: 21720393. Epub 2011/07/02. eng)
    • A. Opar Excitement mounts for first disease-modifying cystic fibrosis drugs Nat Rev Drug Discov 10 7 2011, Jul 479 480 (PubMed PMID: 21720393. Epub 2011/07/02. eng)
    • (2011) Nat Rev Drug Discov , vol.10 , Issue.7 , pp. 479-480
    • Opar, A.1
  • 116
    • 34848895771 scopus 로고    scopus 로고
    • Processing and function of CFTR-DeltaF508 are species-dependent
    • (PubMed PMID: 17873061. Pubmed Central PMCID: 1976592. Epub 2007/09/18. eng)
    • L.S. Ostedgaard, C.S. Rogers, Q. Dong, C.O. Randak, D.W. Vermeer, and T. Rokhlina Processing and function of CFTR-DeltaF508 are species-dependent Proc Natl Acad Sci U S A 104 39 2007, Sep 25 15370 15375 (PubMed PMID: 17873061. Pubmed Central PMCID: 1976592. Epub 2007/09/18. eng)
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.39 , pp. 15370-15375
    • Ostedgaard, L.S.1    Rogers, C.S.2    Dong, Q.3    Randak, C.O.4    Vermeer, D.W.5    Rokhlina, T.6
  • 117
    • 65849522497 scopus 로고    scopus 로고
    • Cystic fibrosis
    • (PubMed PMID: 19403164. eng.)
    • B.P. O'Sullivan, and S.D. Freedman Cystic fibrosis Lancet 373 9678 2009, May 30 1891 1904 (PubMed PMID: 19403164. eng.)
    • (2009) Lancet , vol.373 , Issue.9678 , pp. 1891-1904
    • O'Sullivan, B.P.1    Freedman, S.D.2
  • 118
    • 84884931356 scopus 로고    scopus 로고
    • Pricing for orphan drugs: Will the market bear what society cannot?
    • (PubMed PMID: 24084916. Epub 2013/10/03. eng)
    • B.P. O'Sullivan, D.M. Orenstein, and C.E. Milla Pricing for orphan drugs: will the market bear what society cannot? JAMA 310 13 2013, Oct 2 1343 1344 (PubMed PMID: 24084916. Epub 2013/10/03. eng)
    • (2013) JAMA , vol.310 , Issue.13 , pp. 1343-1344
    • O'Sullivan, B.P.1    Orenstein, D.M.2    Milla, C.E.3
  • 119
    • 24644464284 scopus 로고    scopus 로고
    • Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
    • (PubMed PMID: 16127463. Pubmed Central PMCID: 1190372. Epub 2005/08/30. eng)
    • N. Pedemonte, G.L. Lukacs, K. Du, E. Caci, O. Zegarra-Moran, and L.J. Galietta Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening J Clin Invest 115 9 2005, Sep 2564 2571 (PubMed PMID: 16127463. Pubmed Central PMCID: 1190372. Epub 2005/08/30. eng)
    • (2005) J Clin Invest , vol.115 , Issue.9 , pp. 2564-2571
    • Pedemonte, N.1    Lukacs, G.L.2    Du, K.3    Caci, E.4    Zegarra-Moran, O.5    Galietta, L.J.6
  • 120
    • 84881262655 scopus 로고    scopus 로고
    • HIV drug resistance: Problems and perspectives
    • (PubMed PMID: 24470969. Pubmed Central PMCID: 3892620. Epub 2014/01/29. Eng)
    • P.S. Pennings HIV drug resistance: problems and perspectives Infect Dis Rep 5 Suppl. 1 2013, Jun 6 e5 (PubMed PMID: 24470969. Pubmed Central PMCID: 3892620. Epub 2014/01/29. Eng)
    • (2013) Infect Dis Rep , vol.5 , pp. 5
    • Pennings, P.S.1
  • 121
    • 84880030599 scopus 로고    scopus 로고
    • Management of comorbidities in older patients with cystic fibrosis
    • B.J. Plant, C.H. Goss, W.D. Plant, and S.C. Bell Management of comorbidities in older patients with cystic fibrosis Lancet Respir Med 1 2013 164 174
    • (2013) Lancet Respir Med , vol.1 , pp. 164-174
    • Plant, B.J.1    Goss, C.H.2    Plant, W.D.3    Bell, S.C.4
  • 122
    • 32544448208 scopus 로고    scopus 로고
    • Improving rate of decline of FEV1 in young adults with cystic fibrosis
    • (PubMed PMID: 16384880. Pubmed Central PMCID: 2104571. Epub 2005/12/31. eng)
    • C. Que, P. Cullinan, and D. Geddes Improving rate of decline of FEV1 in young adults with cystic fibrosis Thorax 61 2 2006, Feb 155 157 (PubMed PMID: 16384880. Pubmed Central PMCID: 2104571. Epub 2005/12/31. eng)
    • (2006) Thorax , vol.61 , Issue.2 , pp. 155-157
    • Que, C.1    Cullinan, P.2    Geddes, D.3
  • 123
    • 84867658045 scopus 로고    scopus 로고
    • Cystic fibrosis: What to expect now in the early adult years
    • (PubMed PMID: 23069117. Epub 2012/10/17. eng)
    • B.S. Quon, and M.L. Aitken Cystic fibrosis: what to expect now in the early adult years Paediatr Respir Rev 13 4 2012, Dec 206 214 (PubMed PMID: 23069117. Epub 2012/10/17. eng)
    • (2012) Paediatr Respir Rev , vol.13 , Issue.4 , pp. 206-214
    • Quon, B.S.1    Aitken, M.L.2
  • 124
    • 0036846329 scopus 로고    scopus 로고
    • Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
    • (PubMed PMID: 12397022. Epub 2002/10/25. eng)
    • A.S. Ramalho, S. Beck, M. Meyer, D. Penque, G.R. Cutting, and M.D. Amaral Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis Am J Respir Cell Mol Biol 27 5 2002, Nov 619 627 (PubMed PMID: 12397022. Epub 2002/10/25. eng)
    • (2002) Am J Respir Cell Mol Biol , vol.27 , Issue.5 , pp. 619-627
    • Ramalho, A.S.1    Beck, S.2    Meyer, M.3    Penque, D.4    Cutting, G.R.5    Amaral, M.D.6
  • 125
    • 70450231758 scopus 로고    scopus 로고
    • Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients
    • (PubMed PMID: 19910674. Pubmed Central PMCID: 2793277. Epub 2009/11/17. eng)
    • A.S. Ramalho, M.A. Lewandowska, C.M. Farinha, F. Mendes, J. Goncalves, and C. Barreto Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients Cell Physiol Biochem 24 5-6 2009 335 346 (PubMed PMID: 19910674. Pubmed Central PMCID: 2793277. Epub 2009/11/17. eng)
    • (2009) Cell Physiol Biochem , vol.24 , Issue.56 , pp. 335-346
    • Ramalho, A.S.1    Lewandowska, M.A.2    Farinha, C.M.3    Mendes, F.4    Goncalves, J.5    Barreto, C.6
  • 126
    • 80455162465 scopus 로고    scopus 로고
    • A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
    • (PubMed PMID: 22047557. eng)
    • B.W. Ramsey, J. Davies, N.G. McElvaney, E. Tullis, S.C. Bell, and P. Drevinek A CFTR potentiator in patients with cystic fibrosis and the G551D mutation N Engl J Med 365 18 2011, Nov 3 1663 1672 (PubMed PMID: 22047557. eng)
    • (2011) N Engl J Med , vol.365 , Issue.18 , pp. 1663-1672
    • Ramsey, B.W.1    Davies, J.2    McElvaney, N.G.3    Tullis, E.4    Bell, S.C.5    Drevinek, P.6
  • 127
    • 84869090967 scopus 로고    scopus 로고
    • Long term effects of denufosol tetrasodium in patients with cystic fibrosis
    • (PubMed PMID: 22682898. Epub 2012/06/12. eng)
    • F. Ratjen, T. Durham, T. Navratil, A. Schaberg, F.J. Accurso, and C. Wainwright Long term effects of denufosol tetrasodium in patients with cystic fibrosis J Cyst Fibros 11 6 2012, Dec 539 549 (PubMed PMID: 22682898. Epub 2012/06/12. eng)
    • (2012) J Cyst Fibros , vol.11 , Issue.6 , pp. 539-549
    • Ratjen, F.1    Durham, T.2    Navratil, T.3    Schaberg, A.4    Accurso, F.J.5    Wainwright, C.6
  • 128
    • 77950914953 scopus 로고    scopus 로고
    • Treatment of early Pseudomonas aeruginosa infection in patients with cystic fibrosis: The ELITE trial
    • (PubMed PMID: 19996339. Epub 2009/12/10. eng)
    • F. Ratjen, A. Munck, P. Kho, and G. Angyalosi Treatment of early Pseudomonas aeruginosa infection in patients with cystic fibrosis: the ELITE trial Thorax 65 4 2010, Apr 286 291 (PubMed PMID: 19996339. Epub 2009/12/10. eng)
    • (2010) Thorax , vol.65 , Issue.4 , pp. 286-291
    • Ratjen, F.1    Munck, A.2    Kho, P.3    Angyalosi, G.4
  • 129
    • 84884773595 scopus 로고    scopus 로고
    • VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1
    • (PubMed PMID: 23924900. Pubmed Central PMCID: 3784376. Epub 2013/08/09. eng)
    • H.Y. Ren, D.E. Grove, L.R.O. De, S.A. Houck, P. Sopha, and G.F. Van VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1 Mol Biol Cell 24 19 2013, Oct 3016 3024 (PubMed PMID: 23924900. Pubmed Central PMCID: 3784376. Epub 2013/08/09. eng)
    • (2013) Mol Biol Cell , vol.24 , Issue.19 , pp. 3016-3024
    • Ren, H.Y.1    Grove, D.E.2    De, L.R.O.3    Houck, S.A.4    Sopha, P.5    Van, G.F.6
  • 130
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • (PubMed PMID: 2475911. Epub 1989/09/08. eng)
    • J.R. Riordan, J.M. Rommens, B. Kerem, N. Alon, R. Rozmahel, and Z. Grzelczak Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 4922 1989, Sep 8 1066 1073 (PubMed PMID: 2475911. Epub 1989/09/08. eng)
    • (1989) Science , vol.245 , Issue.4922 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 131
    • 77957847852 scopus 로고    scopus 로고
    • Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy
    • (PubMed PMID: 20384480. Epub 2010/04/14. eng)
    • L. Rocchi, C. Braz, S. Cattani, A. Ramalho, S. Christan, and M. Edlinger Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy Hum Gene Ther 21 9 2010, Sep 1077 1092 (PubMed PMID: 20384480. Epub 2010/04/14. eng)
    • (2010) Hum Gene Ther , vol.21 , Issue.9 , pp. 1077-1092
    • Rocchi, L.1    Braz, C.2    Cattani, S.3    Ramalho, A.4    Christan, S.5    Edlinger, M.6
  • 132
    • 67649344455 scopus 로고    scopus 로고
    • Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways
    • (PubMed PMID: 19363029. Pubmed Central PMCID: 2685669. Epub 2009/04/14. eng)
    • J.R. Rock, W.K. O'Neal, S.E. Gabriel, S.H. Randell, B.D. Harfe, and R.C. Boucher Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways J Biol Chem 284 22 2009, May 29 14875 14880 (PubMed PMID: 19363029. Pubmed Central PMCID: 2685669. Epub 2009/04/14. eng)
    • (2009) J Biol Chem , vol.284 , Issue.22 , pp. 14875-14880
    • Rock, J.R.1    O'Neal, W.K.2    Gabriel, S.E.3    Randell, S.H.4    Harfe, B.D.5    Boucher, R.C.6
  • 133
    • 41849148289 scopus 로고    scopus 로고
    • Production of CFTR-null and CFTR-DeltaF508 heterozygous pigs by adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer
    • (PubMed PMID: 18324337. Pubmed Central PMCID: 2265103. Epub 2008/03/08. eng)
    • C.S. Rogers, Y. Hao, T. Rokhlina, M. Samuel, D.A. Stoltz, and Y. Li Production of CFTR-null and CFTR-DeltaF508 heterozygous pigs by adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer J Clin Invest 118 4 2008, Apr 1571 1577 (PubMed PMID: 18324337. Pubmed Central PMCID: 2265103. Epub 2008/03/08. eng)
    • (2008) J Clin Invest , vol.118 , Issue.4 , pp. 1571-1577
    • Rogers, C.S.1    Hao, Y.2    Rokhlina, T.3    Samuel, M.4    Stoltz, D.A.5    Li, Y.6
  • 134
    • 52949154301 scopus 로고    scopus 로고
    • Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs
    • (PubMed PMID: 18818360. Pubmed Central PMCID: 2570747. Epub 2008/09/27. eng)
    • C.S. Rogers, D.A. Stoltz, D.K. Meyerholz, L.S. Ostedgaard, T. Rokhlina, and P.J. Taft Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs Science 321 5897 2008, Sep 26 1837 1841 (PubMed PMID: 18818360. Pubmed Central PMCID: 2570747. Epub 2008/09/27. eng)
    • (2008) Science , vol.321 , Issue.5897 , pp. 1837-1841
    • Rogers, C.S.1    Stoltz, D.A.2    Meyerholz, D.K.3    Ostedgaard, L.S.4    Rokhlina, T.5    Taft, P.J.6
  • 135
    • 80052328287 scopus 로고    scopus 로고
    • The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients
    • (PubMed PMID: 21909392. Pubmed Central PMCID: 3164200. Epub 2011/09/13. eng)
    • E.K. Roth, S. Hirtz, J. Duerr, D. Wenning, I. Eichler, and H.H. Seydewitz The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients PLoS One 6 8 2011 e24445 (PubMed PMID: 21909392. Pubmed Central PMCID: 3164200. Epub 2011/09/13. eng)
    • (2011) PLoS One , vol.6 , Issue.8 , pp. 24445
    • Roth, E.K.1    Hirtz, S.2    Duerr, J.3    Wenning, D.4    Eichler, I.5    Seydewitz, H.H.6
  • 136
    • 84896500189 scopus 로고    scopus 로고
    • Results of the G551D observational study: The effect of ivacaftor in G551D patients following FDA approval
    • S.M. Rowe, S.L. Heltshe, T. Gonska, S. Donaldson, D. Borowitz, and D. Gelfond Results of the G551D observational study: the effect of ivacaftor in G551D patients following FDA approval Pediatr Pulmonol 48 36 2013 278
    • (2013) Pediatr Pulmonol , vol.48 , Issue.36 , pp. 278
    • Rowe, S.M.1    Heltshe, S.L.2    Gonska, T.3    Donaldson, S.4    Borowitz, D.5    Gelfond, D.6
  • 137
    • 33845197320 scopus 로고    scopus 로고
    • Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms
    • (PubMed PMID: 17098864. Pubmed Central PMCID: 1693843. Epub 2006/11/14. eng)
    • M. Roxo-Rosa, Z. Xu, A. Schmidt, M. Neto, Z. Cai, and C.M. Soares Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms Proc Natl Acad Sci U S A 103 47 2006, Nov 21 17891 17896 (PubMed PMID: 17098864. Pubmed Central PMCID: 1693843. Epub 2006/11/14. eng)
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.47 , pp. 17891-17896
    • Roxo-Rosa, M.1    Xu, Z.2    Schmidt, A.3    Neto, M.4    Cai, Z.5    Soares, C.M.6
  • 138
    • 60449117029 scopus 로고    scopus 로고
    • High treatment burden in adults with cystic fibrosis: Challenges to disease self-management
    • (PubMed PMID: 18952504. Pubmed Central PMCID: 2680350. Epub 2008/10/28. eng)
    • G.S. Sawicki, D.E. Sellers, and W.M. Robinson High treatment burden in adults with cystic fibrosis: challenges to disease self-management J Cyst Fibros 8 2 2009, Mar 91 96 (PubMed PMID: 18952504. Pubmed Central PMCID: 2680350. Epub 2008/10/28. eng)
    • (2009) J Cyst Fibros , vol.8 , Issue.2 , pp. 91-96
    • Sawicki, G.S.1    Sellers, D.E.2    Robinson, W.M.3
  • 139
    • 84861233213 scopus 로고    scopus 로고
    • Managing treatment complexity in cystic fibrosis: Challenges and opportunities
    • (PubMed PMID: 22467341. Epub 2012/04/03. eng)
    • G.S. Sawicki, and H. Tiddens Managing treatment complexity in cystic fibrosis: challenges and opportunities Pediatr Pulmonol 47 6 2012, Jun 523 533 (PubMed PMID: 22467341. Epub 2012/04/03. eng)
    • (2012) Pediatr Pulmonol , vol.47 , Issue.6 , pp. 523-533
    • Sawicki, G.S.1    Tiddens, H.2
  • 140
    • 51549120559 scopus 로고    scopus 로고
    • Expression cloning of TMEM16A as a calcium-activated chloride channel subunit
    • (PubMed PMID: 18805094. Pubmed Central PMCID: 2651354. Epub 2008/09/23. eng)
    • B.C. Schroeder, T. Cheng, Y.N. Jan, and L.Y. Jan Expression cloning of TMEM16A as a calcium-activated chloride channel subunit Cell 134 6 2008, Sep 19 1019 1029 (PubMed PMID: 18805094. Pubmed Central PMCID: 2651354. Epub 2008/09/23. eng)
    • (2008) Cell , vol.134 , Issue.6 , pp. 1019-1029
    • Schroeder, B.C.1    Cheng, T.2    Jan, Y.N.3    Jan, L.Y.4
  • 141
    • 84890033064 scopus 로고    scopus 로고
    • Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients
    • (PubMed PMID: 24315439. Epub 2013/12/10. eng)
    • G. Schwank, B.K. Koo, V. Sasselli, J.F. Dekkers, I. Heo, and T. Demircan Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients Cell Stem Cell 13 6 2013, Dec 5 653 658 (PubMed PMID: 24315439. Epub 2013/12/10. eng)
    • (2013) Cell Stem Cell , vol.13 , Issue.6 , pp. 653-658
    • Schwank, G.1    Koo, B.K.2    Sasselli, V.3    Dekkers, J.F.4    Heo, I.5    Demircan, T.6
  • 142
    • 33750949242 scopus 로고    scopus 로고
    • Immmunoreactive trypsin/DNA newborn screening for cystic fibrosis: Should the R117H variant be included in CFTR mutation panels?
    • (PubMed PMID: 17015492. Epub 2006/10/04. eng)
    • V. Scotet, M.P. Audrezet, M. Roussey, G. Rault, A. Dirou-Prigent, and H. Journel Immmunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics 118 5 2006, Nov e1523 e1529 (PubMed PMID: 17015492. Epub 2006/10/04. eng)
    • (2006) Pediatrics , vol.118 , Issue.5 , pp. 1523-e1529
    • Scotet, V.1    Audrezet, M.P.2    Roussey, M.3    Rault, G.4    Dirou-Prigent, A.5    Journel, H.6
  • 143
    • 17544374096 scopus 로고    scopus 로고
    • Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity
    • (PubMed PMID: 8662892. Epub 1996/06/21. eng)
    • F.S. Seibert, P. Linsdell, T.W. Loo, J.W. Hanrahan, D.M. Clarke, and J.R. Riordan Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity J Biol Chem 271 25 1996, Jun 21 15139 15145 (PubMed PMID: 8662892. Epub 1996/06/21. eng)
    • (1996) J Biol Chem , vol.271 , Issue.25 , pp. 15139-15145
    • Seibert, F.S.1    Linsdell, P.2    Loo, T.W.3    Hanrahan, J.W.4    Clarke, D.M.5    Riordan, J.R.6
  • 144
    • 78349290383 scopus 로고    scopus 로고
    • Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
    • (PubMed PMID: 20622033. Epub 2010/07/14. eng)
    • I. Sermet-Gaudelus, K.D. Boeck, G.J. Casimir, F. Vermeulen, T. Leal, and A. Mogenet Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis Am J Respir Crit Care Med 182 10 2010, Nov 15 1262 1272 (PubMed PMID: 20622033. Epub 2010/07/14. eng)
    • (2010) Am J Respir Crit Care Med , vol.182 , Issue.10 , pp. 1262-1272
    • Sermet-Gaudelus, I.1    Boeck, K.D.2    Casimir, G.J.3    Vermeulen, F.4    Leal, T.5    Mogenet, A.6
  • 145
    • 12144287602 scopus 로고    scopus 로고
    • Misfolding diverts CFTR from recycling to degradation: Quality control at early endosomes
    • (PubMed PMID: 15007060. Pubmed Central PMCID: 2172283. Epub 2004/03/10. eng)
    • M. Sharma, F. Pampinella, C. Nemes, M. Benharouga, J. So, and K. Du Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes J Cell Biol 164 6 2004, Mar 15 923 933 (PubMed PMID: 15007060. Pubmed Central PMCID: 2172283. Epub 2004/03/10. eng)
    • (2004) J Cell Biol , vol.164 , Issue.6 , pp. 923-933
    • Sharma, M.1    Pampinella, F.2    Nemes, C.3    Benharouga, M.4    So, J.5    Du, K.6
  • 146
    • 0027408231 scopus 로고
    • Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties
    • (PubMed PMID: 7680769. Epub 1993/03/11. eng)
    • D.N. Sheppard, D.P. Rich, L.S. Ostedgaard, R.J. Gregory, A.E. Smith, and M.J. Welsh Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties Nature 362 6416 1993, Mar 11 160 164 (PubMed PMID: 7680769. Epub 1993/03/11. eng)
    • (1993) Nature , vol.362 , Issue.6416 , pp. 160-164
    • Sheppard, D.N.1    Rich, D.P.2    Ostedgaard, L.S.3    Gregory, R.J.4    Smith, A.E.5    Welsh, M.J.6
  • 147
    • 84876720953 scopus 로고    scopus 로고
    • Modelling human disease with pluripotent stem cells
    • (PubMed PMID: 23444871. Pubmed Central PMCID: 3785403. Epub 2013/03/01. eng)
    • R. Siller, S. Greenhough, I.H. Park, and G.J. Sullivan Modelling human disease with pluripotent stem cells Curr Gene Ther 13 2 2013, Apr 99 110 (PubMed PMID: 23444871. Pubmed Central PMCID: 3785403. Epub 2013/03/01. eng)
    • (2013) Curr Gene Ther , vol.13 , Issue.2 , pp. 99-110
    • Siller, R.1    Greenhough, S.2    Park, I.H.3    Sullivan, G.J.4
  • 148
    • 60649115622 scopus 로고    scopus 로고
    • Growing old with cystic fibrosis - The characteristics of long-term survivors of cystic fibrosis
    • (PubMed PMID: 19022643. eng)
    • N.J. Simmonds, P. Cullinan, and M.E. Hodson Growing old with cystic fibrosis - the characteristics of long-term survivors of cystic fibrosis Respir Med 103 4 2009, Apr. 629 635 (PubMed PMID: 19022643. eng)
    • (2009) Respir Med , vol.103 , Issue.4 , pp. 629-635
    • Simmonds, N.J.1    Cullinan, P.2    Hodson, M.E.3
  • 149
    • 67650440606 scopus 로고    scopus 로고
    • Designs and adaptive analysis plans for pivotal clinical trials of therapeutics and companion diagnostics
    • (PubMed PMID: 23495781. Epub 2008/06/01. eng)
    • R. Simon Designs and adaptive analysis plans for pivotal clinical trials of therapeutics and companion diagnostics Expert Opin Med Diagn 2 6 2008, Jun 721 729 (PubMed PMID: 23495781. Epub 2008/06/01. eng)
    • (2008) Expert Opin Med Diagn , vol.2 , Issue.6 , pp. 721-729
    • Simon, R.1
  • 150
    • 84893582109 scopus 로고    scopus 로고
    • Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases
    • (PubMed PMID: 24506781. Epub 2014/02/11. eng)
    • K. Siva, G. Covello, and M.A. Denti Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases Nucleic Acids Ther 24 1 2014, Feb 69 86 (PubMed PMID: 24506781. Epub 2014/02/11. eng)
    • (2014) Nucleic Acids Ther , vol.24 , Issue.1 , pp. 69-86
    • Siva, K.1    Covello, G.2    Denti, M.A.3
  • 151
    • 84878000440 scopus 로고    scopus 로고
    • Risk factors for bronchiectasis in children with cystic fibrosis
    • (PubMed PMID: 23692169. Epub 2013/05/23. eng)
    • P.D. Sly, C.L. Gangell, L. Chen, R.S. Ware, S. Ranganathan, and L.S. Mott Risk factors for bronchiectasis in children with cystic fibrosis N Engl J Med 368 21 2013, May 23 1963 1970 (PubMed PMID: 23692169. Epub 2013/05/23. eng)
    • (2013) N Engl J Med , vol.368 , Issue.21 , pp. 1963-1970
    • Sly, P.D.1    Gangell, C.L.2    Chen, L.3    Ware, R.S.4    Ranganathan, S.5    Mott, L.S.6
  • 152
    • 0026649122 scopus 로고
    • An animal model for cystic fibrosis made by gene targeting
    • (PubMed PMID: 1380723. Epub 1992/08/21. eng)
    • J.N. Snouwaert, K.K. Brigman, A.M. Latour, N.N. Malouf, R.C. Boucher, and O. Smithies An animal model for cystic fibrosis made by gene targeting Science 257 5073 1992, Aug 21 1083 1088 (PubMed PMID: 1380723. Epub 1992/08/21. eng)
    • (1992) Science , vol.257 , Issue.5073 , pp. 1083-1088
    • Snouwaert, J.N.1    Brigman, K.K.2    Latour, A.M.3    Malouf, N.N.4    Boucher, R.C.5    Smithies, O.6
  • 153
    • 84885022205 scopus 로고    scopus 로고
    • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
    • (PubMed PMID: 23974870. Pubmed Central PMCID: 3874936. Epub 2013/08/27. eng.)
    • P.R. Sosnay, K.R. Siklosi, G.F. Van, K. Kaniecki, H. Yu, and N. Sharma Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene Nat Genet 45 10 2013, Oct 1160 1167 (PubMed PMID: 23974870. Pubmed Central PMCID: 3874936. Epub 2013/08/27. eng.)
    • (2013) Nat Genet , vol.45 , Issue.10 , pp. 1160-1167
    • Sosnay, P.R.1    Siklosi, K.R.2    Van, G.F.3    Kaniecki, K.4    Yu, H.5    Sharma, N.6
  • 154
    • 84867641604 scopus 로고    scopus 로고
    • Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis
    • (PubMed PMID: 23082198. Pubmed Central PMCID: 3474728. Epub 2012/10/20. eng)
    • M. Sousa, M.F. Servidoni, A.M. Vinagre, A.S. Ramalho, L.C. Bonadia, and V. Felicio Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis PLoS One 7 10 2012 e47708 (PubMed PMID: 23082198. Pubmed Central PMCID: 3474728. Epub 2012/10/20. eng)
    • (2012) PLoS One , vol.7 , Issue.10 , pp. 47708
    • Sousa, M.1    Servidoni, M.F.2    Vinagre, A.M.3    Ramalho, A.S.4    Bonadia, L.C.5    Felicio, V.6
  • 155
    • 80051566309 scopus 로고    scopus 로고
    • Exciting new clinical trials in cystic fibrosis: Infants need not apply
    • (PubMed PMID: 21693709. Epub 2011/06/23. eng)
    • S.M. Stick, and P.D. Sly Exciting new clinical trials in cystic fibrosis: infants need not apply Am J Respir Crit Care Med 183 12 2011, Jun 15 1577 1578 (PubMed PMID: 21693709. Epub 2011/06/23. eng)
    • (2011) Am J Respir Crit Care Med , vol.183 , Issue.12 , pp. 1577-1578
    • Stick, S.M.1    Sly, P.D.2
  • 156
    • 84866061431 scopus 로고    scopus 로고
    • Early antibiotic treatment for Pseudomonas aeruginosa eradication in patients with cystic fibrosis: A randomised multicentre study comparing two different protocols
    • (PubMed PMID: 22379071. Epub 2012/03/02. eng
    • G. Taccetti, E. Bianchini, L. Cariani, R. Buzzetti, D. Costantini, and F. Trevisan Early antibiotic treatment for Pseudomonas aeruginosa eradication in patients with cystic fibrosis: a randomised multicentre study comparing two different protocols Thorax 67 10 2012, Oct 853 859 (PubMed PMID: 22379071. Epub 2012/03/02. eng
    • (2012) Thorax , vol.67 , Issue.10 , pp. 853-859
    • Taccetti, G.1    Bianchini, E.2    Cariani, L.3    Buzzetti, R.4    Costantini, D.5    Trevisan, F.6
  • 157
    • 33747195353 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    • (PubMed PMID: 16904174. Epub 2006/08/15. eng)
    • K. Takahashi, and S. Yamanaka Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors Cell 126 4 2006, Aug 25 663 676 (PubMed PMID: 16904174. Epub 2006/08/15. eng)
    • (2006) Cell , vol.126 , Issue.4 , pp. 663-676
    • Takahashi, K.1    Yamanaka, S.2
  • 158
    • 34547380103 scopus 로고    scopus 로고
    • Regionalization of the tail-tip epidermis requires inductive influence from vegetal cells and FGF signaling in the development of an ascidian, Halocynthia roretzi
    • (PubMed PMID: 17867843. Epub 2007/09/18. eng)
    • N. Takatori, S. Wada, and H. Saiga Regionalization of the tail-tip epidermis requires inductive influence from vegetal cells and FGF signaling in the development of an ascidian, Halocynthia roretzi Zoolog Sci 24 5 2007, May 441 448 (PubMed PMID: 17867843. Epub 2007/09/18. eng)
    • (2007) Zoolog Sci , vol.24 , Issue.5 , pp. 441-448
    • Takatori, N.1    Wada, S.2    Saiga, H.3
  • 159
    • 72449149800 scopus 로고    scopus 로고
    • The very low penetrance of cystic fibrosis for the R117H mutation: A reappraisal for genetic counselling and newborn screening
    • (PubMed PMID: 19880712. Epub 2009/11/03. eng)
    • C. Thauvin-Robinet, A. Munck, F. Huet, E. Genin, G. Bellis, and E. Gautier The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening J Med Genet 46 11 2009, Nov 752 758 (PubMed PMID: 19880712. Epub 2009/11/03. eng)
    • (2009) J Med Genet , vol.46 , Issue.11 , pp. 752-758
    • Thauvin-Robinet, C.1    Munck, A.2    Huet, F.3    Genin, E.4    Bellis, G.5    Gautier, E.6
  • 160
    • 84872858136 scopus 로고    scopus 로고
    • Control of TMEM16A by INO-4995 and other inositolphosphates
    • (PubMed PMID: 22946960. Pubmed Central PMCID: 3570019. Epub 2012/09/06. eng)
    • Y. Tian, R. Schreiber, P. Wanitchakool, P. Kongsuphol, M. Sousa, and I. Uliyakina Control of TMEM16A by INO-4995 and other inositolphosphates Br J Pharmacol 168 1 2013, Jan 253 265 (PubMed PMID: 22946960. Pubmed Central PMCID: 3570019. Epub 2012/09/06. eng)
    • (2013) Br J Pharmacol , vol.168 , Issue.1 , pp. 253-265
    • Tian, Y.1    Schreiber, R.2    Wanitchakool, P.3    Kongsuphol, P.4    Sousa, M.5    Uliyakina, I.6
  • 161
    • 67949091246 scopus 로고    scopus 로고
    • Introduction: Striving for excellence: Optimising CF patient care today
    • (PubMed PMID: 19460680. Epub 2009/05/23. eng)
    • H.A. Tiddens Introduction: striving for excellence: optimising CF patient care today J Cyst Fibros 8 Suppl. 1 2009, Jun S1 (PubMed PMID: 19460680. Epub 2009/05/23. eng)
    • (2009) J Cyst Fibros , vol.8 , pp. 1
    • Tiddens, H.A.1
  • 162
    • 84893936579 scopus 로고    scopus 로고
    • Multi-modality monitoring of cystic fibrosis lung disease: The role of chest computed tomography
    • (PubMed PMID: 23830321. Epub 2013/07/09. Eng)
    • H.A. Tiddens, S.M. Stick, and S. Davis Multi-modality monitoring of cystic fibrosis lung disease: the role of chest computed tomography Paediatr Respir Rev 15 1 2014, Mar 92 97 (PubMed PMID: 23830321. Epub 2013/07/09. Eng)
    • (2014) Paediatr Respir Rev , vol.15 , Issue.1 , pp. 92-97
    • Tiddens, H.A.1    Stick, S.M.2    Davis, S.3
  • 163
    • 0029086350 scopus 로고
    • A mouse model for the cystic fibrosis delta F508 mutation
    • (PubMed PMID: 7556083. Pubmed Central PMCID: 394531. Epub 1995/09/15. eng)
    • J.H. van Doorninck, P.J. French, E. Verbeek, R.H. Peters, H. Morreau, and J. Bijman A mouse model for the cystic fibrosis delta F508 mutation EMBO J 14 18 1995, Sep 15 4403 4411 (PubMed PMID: 7556083. Pubmed Central PMCID: 394531. Epub 1995/09/15. eng)
    • (1995) EMBO J , vol.14 , Issue.18 , pp. 4403-4411
    • Van Doorninck, J.H.1    French, P.J.2    Verbeek, E.3    Peters, R.H.4    Morreau, H.5    Bijman, J.6
  • 164
    • 73249114731 scopus 로고    scopus 로고
    • Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    • (PubMed PMID: 19846789. Pubmed Central PMCID: 2773991. Epub 2009/10/23. eng)
    • F. Van Goor, S. Hadida, P.D. Grootenhuis, B. Burton, D. Cao, and T. Neuberger Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 Proc Natl Acad Sci U S A 106 44 2009, Nov 3 18825 18830 (PubMed PMID: 19846789. Pubmed Central PMCID: 2773991. Epub 2009/10/23. eng)
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.44 , pp. 18825-18830
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3    Burton, B.4    Cao, D.5    Neuberger, T.6
  • 165
    • 81755163563 scopus 로고    scopus 로고
    • Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
    • (PubMed PMID: 21976485. Pubmed Central PMCID: 3219147. Epub 2011/10/07. eng)
    • F. Van Goor, S. Hadida, P.D. Grootenhuis, B. Burton, J.H. Stack, and K.S. Straley Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809 Proc Natl Acad Sci U S A 108 46 2011, Nov 15 18843 18848 (PubMed PMID: 21976485. Pubmed Central PMCID: 3219147. Epub 2011/10/07. eng)
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.46 , pp. 18843-18848
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3    Burton, B.4    Stack, J.H.5    Straley, K.S.6
  • 166
    • 84890435909 scopus 로고    scopus 로고
    • Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function
    • (PubMed PMID: 23891399. Epub 2013/07/31. eng)
    • F. Van Goor, H. Yu, B. Burton, and B.J. Hoffman Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function J Cyst Fibros 13 1 2014, Jan 29 36 (PubMed PMID: 23891399. Epub 2013/07/31. eng)
    • (2014) J Cyst Fibros , vol.13 , Issue.1 , pp. 29-36
    • Van Goor, F.1    Yu, H.2    Burton, B.3    Hoffman, B.J.4
  • 167
    • 84890309789 scopus 로고    scopus 로고
    • Lung clearance index predicts pulmonary exacerbations in young patients with cystic fibrosis
    • (PubMed PMID: 24021874. Epub 2013/09/12. eng)
    • F. Vermeulen, M. Proesmans, M. Boon, T. Havermans, and B.K. De Lung clearance index predicts pulmonary exacerbations in young patients with cystic fibrosis Thorax 69 1 2014, Jan 39 45 (PubMed PMID: 24021874. Epub 2013/09/12. eng)
    • (2014) Thorax , vol.69 , Issue.1 , pp. 39-45
    • Vermeulen, F.1    Proesmans, M.2    Boon, M.3    Havermans, T.4    De, B.K.5
  • 168
    • 3543080347 scopus 로고    scopus 로고
    • Effects of a new cystic fibrosis transmembrane conductance regulator inhibitor on Cl- conductance in human sweat ducts
    • (PubMed PMID: 15131065. Epub 2004/05/08. eng)
    • X.F. Wang, M.M. Reddy, and P.M. Quinton Effects of a new cystic fibrosis transmembrane conductance regulator inhibitor on Cl- conductance in human sweat ducts Exp Physiol 89 4 2004, Jul 417 425 (PubMed PMID: 15131065. Epub 2004/05/08. eng)
    • (2004) Exp Physiol , vol.89 , Issue.4 , pp. 417-425
    • Wang, X.F.1    Reddy, M.M.2    Quinton, P.M.3
  • 169
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • (PubMed PMID: 17450125. Epub 2007/04/24. eng)
    • E.M. Welch, E.R. Barton, J. Zhuo, Y. Tomizawa, W.J. Friesen, and P. Trifillis PTC124 targets genetic disorders caused by nonsense mutations Nature 447 7140 2007, May 3 87 91 (PubMed PMID: 17450125. Epub 2007/04/24. eng)
    • (2007) Nature , vol.447 , Issue.7140 , pp. 87-91
    • Welch, E.M.1    Barton, E.R.2    Zhuo, J.3    Tomizawa, Y.4    Friesen, W.J.5    Trifillis, P.6
  • 170
    • 0029436976 scopus 로고
    • Cystic fibrosis
    • (PubMed PMID: 8525348. Epub 1995/12/01. eng)
    • M.J. Welsh, and A.E. Smith Cystic fibrosis Sci Am 273 6 1995, Dec 52 59 (PubMed PMID: 8525348. Epub 1995/12/01. eng)
    • (1995) Sci Am , vol.273 , Issue.6 , pp. 52-59
    • Welsh, M.J.1    Smith, A.E.2
  • 171
    • 84898994097 scopus 로고    scopus 로고
    • Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease
    • (PubMed PMID: 24564281)
    • M.O. Wielputz, M. Puderbach, A. Kopp-Schneider, M. Stahl, E. Fritzsching, and O. Sommerburg Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease Am J Respir Crit Care Med 189 8 2014, Apr 15 956 965 (PubMed PMID: 24564281)
    • (2014) Am J Respir Crit Care Med , vol.189 , Issue.8 , pp. 956-965
    • Wielputz, M.O.1    Puderbach, M.2    Kopp-Schneider, A.3    Stahl, M.4    Fritzsching, E.5    Sommerburg, O.6
  • 172
    • 0034073736 scopus 로고    scopus 로고
    • A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
    • (PubMed PMID: 10712334. Epub 2000/03/11. eng)
    • M. Wilschanski, C. Famini, H. Blau, J. Rivlin, A. Augarten, and A. Avital A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations Am J Respir Crit Care Med 161 3 Pt 1 2000, Mar 860 865 (PubMed PMID: 10712334. Epub 2000/03/11. eng)
    • (2000) Am J Respir Crit Care Med , vol.161 , Issue.3 , pp. 860-865
    • Wilschanski, M.1    Famini, C.2    Blau, H.3    Rivlin, J.4    Augarten, A.5    Avital, A.6
  • 173
    • 79960187095 scopus 로고    scopus 로고
    • Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
    • (PubMed PMID: 21233271. Epub 2011/01/15. eng)
    • M. Wilschanski, L.L. Miller, D. Shoseyov, H. Blau, J. Rivlin, and M. Aviram Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis Eur Respir J 38 1 2011, Jul 59 69 (PubMed PMID: 21233271. Epub 2011/01/15. eng)
    • (2011) Eur Respir J , vol.38 , Issue.1 , pp. 59-69
    • Wilschanski, M.1    Miller, L.L.2    Shoseyov, D.3    Blau, H.4    Rivlin, J.5    Aviram, M.6
  • 174
    • 0141863491 scopus 로고    scopus 로고
    • Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
    • (PubMed PMID: 14534336. Epub 2003/10/10. eng)
    • M. Wilschanski, Y. Yahav, Y. Yaacov, H. Blau, L. Bentur, and J. Rivlin Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations N Engl J Med 349 15 2003, Oct 9 1433 1441 (PubMed PMID: 14534336. Epub 2003/10/10. eng)
    • (2003) N Engl J Med , vol.349 , Issue.15 , pp. 1433-1441
    • Wilschanski, M.1    Yahav, Y.2    Yaacov, Y.3    Blau, H.4    Bentur, L.5    Rivlin, J.6
  • 175
    • 79957588506 scopus 로고    scopus 로고
    • Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
    • (PubMed PMID: 21602797. Pubmed Central PMCID: 3296486. Epub 2011/05/24. eng)
    • F.A. Wright, L.J. Strug, V.K. Doshi, C.W. Commander, S.M. Blackman, and L. Sun Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 Nat Genet 43 6 2011, Jun 539 546 (PubMed PMID: 21602797. Pubmed Central PMCID: 3296486. Epub 2011/05/24. eng)
    • (2011) Nat Genet , vol.43 , Issue.6 , pp. 539-546
    • Wright, F.A.1    Strug, L.J.2    Doshi, V.K.3    Commander, C.W.4    Blackman, S.M.5    Sun, L.6
  • 176
    • 84918767451 scopus 로고    scopus 로고
    • Available from: http://www.actionduchenne.org/viewarticle?news=497 2014, March 1
    • (2014)
  • 177
    • 84918825812 scopus 로고    scopus 로고
    • Available from: http://www.cff.org/research/clinicalresearch/faqs/combinedkalydeco-vx-809 2014, Feb 17
    • (2014)
  • 178
    • 84918825154 scopus 로고    scopus 로고
    • Available from: http://www.cff.org/research/drugdevelopmentpipeline/ 2014, May 23
    • (2014)
  • 179
    • 84918811227 scopus 로고    scopus 로고
    • Available from: www.CFTR2.org 2014, February 17
    • (2014)
  • 180
    • 55249091085 scopus 로고    scopus 로고
    • TMEM16A confers receptor-activated calcium-dependent chloride conductance
    • (PubMed PMID: 18724360. Epub 2008/08/30. eng)
    • Y.D. Yang, H. Cho, J.Y. Koo, M.H. Tak, Y. Cho, and W.S. Shim TMEM16A confers receptor-activated calcium-dependent chloride conductance Nature 455 7217 2008, Oct 30 1210 1215 (PubMed PMID: 18724360. Epub 2008/08/30. eng)
    • (2008) Nature , vol.455 , Issue.7217 , pp. 1210-1215
    • Yang, Y.D.1    Cho, H.2    Koo, J.Y.3    Tak, M.H.4    Cho, Y.5    Shim, W.S.6
  • 181
    • 4043052927 scopus 로고    scopus 로고
    • Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
    • (PubMed PMID: 15286159. Pubmed Central PMCID: 1735860. Epub 2004/08/03. eng)
    • J. Yarden, D. Radojkovic, K. De Boeck, M. Macek Jr., D. Zemkova, and V. Vavrova Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype J Med Genet 41 8 2004, Aug 629 633 (PubMed PMID: 15286159. Pubmed Central PMCID: 1735860. Epub 2004/08/03. eng)
    • (2004) J Med Genet , vol.41 , Issue.8 , pp. 629-633
    • Yarden, J.1    Radojkovic, D.2    De Boeck, K.3    MacEk, M.4    Zemkova, D.5    Vavrova, V.6
  • 182
    • 84862776940 scopus 로고    scopus 로고
    • Ivacaftor potentiation of multiple CFTR channels with gating mutations
    • (PubMed PMID: 22293084. Epub 2012/02/02. eng)
    • H. Yu, B. Burton, C.J. Huang, J. Worley, D. Cao, and J.P. Johnson Jr. Ivacaftor potentiation of multiple CFTR channels with gating mutations J Cyst Fibros 11 3 2012, May 237 245 (PubMed PMID: 22293084. Epub 2012/02/02. eng)
    • (2012) J Cyst Fibros , vol.11 , Issue.3 , pp. 237-245
    • Yu, H.1    Burton, B.2    Huang, C.J.3    Worley, J.4    Cao, D.5    Johnson, J.P.6
  • 183
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • (PubMed PMID: 8825494. Epub 1995/01/01. eng)
    • J. Zielenski, and L.C. Tsui Cystic fibrosis: genotypic and phenotypic variations Annu Rev Genet 29 1995 777 807 (PubMed PMID: 8825494. Epub 1995/01/01. eng)
    • (1995) Annu Rev Genet , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.