메뉴 건너뛰기




Volumn 352, Issue , 2016, Pages

New and emerging targeted therapies for cystic fibrosis

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ENZYME INHIBITOR; GUANYLATE CYCLASE ACTIVATOR; IVACAFTOR; LUMACAFTOR; N 91115; PHOSPHODIESTERASE V INHIBITOR; S NITROSOGLUTATHIONE REDUCTASE INHIBITOR; UNCLASSIFIED DRUG; 1,3 BENZODIOXOLE DERIVATIVE; AMINOPHENOL DERIVATIVE; AMINOPYRIDINE DERIVATIVE; OXADIAZOLE DERIVATIVE; QUINOLONE DERIVATIVE;

EID: 84962092286     PISSN: 09598146     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.i859     Document Type: Review
Times cited : (109)

References (151)
  • 1
    • 85054267316 scopus 로고    scopus 로고
    • Genes and human disease
    • WHO. Genomic Resource Centre. Genes and human disease. http://www.who.int/genomics/public/geneticdiseases/en/index2.html.
    • Genomic Resource Centre
    • WHO1
  • 3
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear CE, Li CH, Kartner N, et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 1992;68:809-18.
    • (1992) Cell , vol.68 , pp. 809-818
    • Bear, C.E.1    Li, C.H.2    Kartner, N.3
  • 4
    • 0025155528 scopus 로고
    • Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells
    • Rich D P, Anderson M P, Gregory RJ, et al. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 1990;347:358-63.
    • (1990) Nature , vol.347 , pp. 358-363
    • Rich, D.P.1    Anderson, M.P.2    Gregory, R.J.3
  • 6
    • 0028129568 scopus 로고
    • Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis
    • Fuchs HJ, Borowitz DS, Christiansen DH, et al. The Pulmozyme Study Group. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. N Engl J Med 1994;331:637-42.
    • (1994) N Engl J Med , vol.331 , pp. 637-642
    • Fuchs, H.J.1    Borowitz, D.S.2    Christiansen, D.H.3
  • 7
    • 30944466084 scopus 로고    scopus 로고
    • A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis
    • Elkins MR, Robinson M, Rose BR, et al. National Hypertonic Saline in Cystic Fibrosis (NHSCF) Study Group. A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N Engl J Med 2006;354:229-40.
    • (2006) N Engl J Med , vol.354 , pp. 229-240
    • Elkins, M.R.1    Robinson, M.2    Rose, B.R.3
  • 8
    • 84858234304 scopus 로고    scopus 로고
    • Longterm inhaled dry powder mannitol in cystic fibrosis: An international randomized study
    • Aitken ML, Bellon G, De Boeck K, et al. CF302 Investigators. Longterm inhaled dry powder mannitol in cystic fibrosis: an international randomized study. Am J Respir Crit Care Med 2012;185:645-52.
    • (2012) Am J Respir Crit Care Med , vol.185 , pp. 645-652
    • Aitken, M.L.1    Bellon, G.2    De Boeck, K.3
  • 9
    • 80355127141 scopus 로고    scopus 로고
    • Inhaled dry powder mannitol in cystic fibrosis: An efficacy and safety study
    • Bilton D, Robinson P, Cooper P, et al. CF301 Study Investigators. Inhaled dry powder mannitol in cystic fibrosis: an efficacy and safety study. Eur Respir J 2011;38:1071-80.
    • (2011) Eur Respir J , vol.38 , pp. 1071-1080
    • Bilton, D.1    Robinson, P.2    Cooper, P.3
  • 10
    • 84878360064 scopus 로고    scopus 로고
    • Pooled analysis of two large randomised phase III inhaled mannitol studies in cystic fibrosis
    • Bilton D, Bellon G, Charlton B, et al. CF301 and CF302 Investigators. Pooled analysis of two large randomised phase III inhaled mannitol studies in cystic fibrosis. J Cyst Fibros 2013;12:367-76.
    • (2013) J Cyst Fibros , vol.12 , pp. 367-376
    • Bilton, D.1    Bellon, G.2    Charlton, B.3
  • 11
    • 0033531143 scopus 로고    scopus 로고
    • Intermittent administration of inhaled tobramycin in patients with cystic fibrosis
    • Ramsey BW, Pepe MS, Quan JM, et al. Cystic Fibrosis Inhaled Tobramycin Study Group. Intermittent administration of inhaled tobramycin in patients with cystic fibrosis. N Engl J Med 1999;340:23-30.
    • (1999) N Engl J Med , vol.340 , pp. 23-30
    • Ramsey, B.W.1    Pepe, M.S.2    Quan, J.M.3
  • 13
    • 0141816759 scopus 로고    scopus 로고
    • Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: A randomized controlled trial
    • Saiman L, Marshall BC, Mayer-Hamblett N, et al. Macrolide Study Group. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA 2003;290:1749-56.
    • (2003) JAMA , vol.290 , pp. 1749-1756
    • Saiman, L.1    Marshall, B.C.2    Mayer-Hamblett, N.3
  • 14
    • 77951887288 scopus 로고    scopus 로고
    • Effect of azithromycin on pulmonary function in patients with cystic fibrosis uninfected with Pseudomonas aeruginosa: A randomized controlled trial
    • Saiman L, Anstead M, Mayer-Hamblett N, et al. AZ0004 Azithromycin Study Group. Effect of azithromycin on pulmonary function in patients with cystic fibrosis uninfected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA 2010;303:1707-15.
    • (2010) JAMA , vol.303 , pp. 1707-1715
    • Saiman, L.1    Anstead, M.2    Mayer-Hamblett, N.3
  • 15
    • 0028914667 scopus 로고
    • Effect of high-dose ibuprofen in patients with cystic fibrosis
    • Konstan MW, Byard PJ, Hoppel CL, Davis PB. Effect of high-dose ibuprofen in patients with cystic fibrosis. N Engl J Med 1995;332:848-54.
    • (1995) N Engl J Med , vol.332 , pp. 848-854
    • Konstan, M.W.1    Byard, P.J.2    Hoppel, C.L.3    Davis, P.B.4
  • 16
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 19
    • 0038663174 scopus 로고    scopus 로고
    • Effect of genotype on phenotype and mortality in cystic fibrosis: A retrospective cohort study
    • McKone EF, Emerson SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003;361:1671-6.
    • (2003) Lancet , vol.361 , pp. 1671-1676
    • McKone, E.F.1    Emerson, S.S.2    Edwards, K.L.3    Aitken, M.L.4
  • 20
    • 80455162465 scopus 로고    scopus 로고
    • A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
    • Ramsey BW, Davies J, McElvaney NG, et al. VX08-770-102 Study Group. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365:1663-72.
    • (2011) N Engl J Med , vol.365 , pp. 1663-1672
    • Ramsey, B.W.1    Davies, J.2    McElvaney, N.G.3
  • 21
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3
  • 22
    • 50649123290 scopus 로고    scopus 로고
    • CFTR function and prospects for therapy
    • Riordan JR. CFTR function and prospects for therapy. Annu Rev Biochem 2008;77:701-26.
    • (2008) Annu Rev Biochem , vol.77 , pp. 701-726
    • Riordan, J.R.1
  • 23
    • 65749102092 scopus 로고    scopus 로고
    • Gating of the CFTR Cl-channel by ATP-driven nucleotide-binding domain dimerisation
    • Hwang TC, Sheppard DN. Gating of the CFTR Cl-channel by ATP-driven nucleotide-binding domain dimerisation. J Physiol 2009;587:2151-61.
    • (2009) J Physiol , vol.587 , pp. 2151-2161
    • Hwang, T.C.1    Sheppard, D.N.2
  • 25
    • 75649088951 scopus 로고    scopus 로고
    • NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR
    • Kanelis V, Hudson RP, Thibodeau PH, Thomas PJ, Forman-Kay JD. NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR. EMBO J 2010;29:263-77.
    • (2010) EMBO J , vol.29 , pp. 263-277
    • Kanelis, V.1    Hudson, R.P.2    Thibodeau, P.H.3    Thomas, P.J.4    Forman-Kay, J.D.5
  • 26
    • 0025349031 scopus 로고
    • Cystic fibrosis: A disease in electrolyte transport
    • Quinton PM. Cystic fibrosis: a disease in electrolyte transport. FASEB J 1990;4:2709-17.
    • (1990) FASEB J , vol.4 , pp. 2709-2717
    • Quinton, P.M.1
  • 27
    • 84937631483 scopus 로고    scopus 로고
    • Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy
    • Cantin AM, Hartl D, Konstan MW, Chmiel JF Inflammation in cystic fibrosis lung disease: pathogenesis and therapy. J Cyst Fibros 2015;14:419-30.
    • (2015) J Cyst Fibros , vol.14 , pp. 419-430
    • Cantin, A.M.1    Hartl, D.2    Konstan, M.W.3    Chmiel, J.F.4
  • 28
    • 84907833958 scopus 로고    scopus 로고
    • A functional anatomic defect of the cystic fibrosis airway
    • Birket SE, Chu KK, Liu L, et al. A functional anatomic defect of the cystic fibrosis airway. Am J Respir Crit Care Med 2014;190:421-32.
    • (2014) Am J Respir Crit Care Med , vol.190 , pp. 421-432
    • Birket, S.E.1    Chu, K.K.2    Liu, L.3
  • 29
    • 84906089250 scopus 로고    scopus 로고
    • Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis
    • Hoegger MJ, Fischer AJ, McMenimen JD, et al. Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis. Science 2014;345:818-22.
    • (2014) Science , vol.345 , pp. 818-822
    • Hoegger, M.J.1    Fischer, A.J.2    McMenimen, J.D.3
  • 30
    • 70349223856 scopus 로고    scopus 로고
    • Normal mouse intestinal mucus release requires cystic fibrosis transmembrane regulator-dependent bicarbonate secretion
    • Garcia MA, Yang N, Quinton PM. Normal mouse intestinal mucus release requires cystic fibrosis transmembrane regulator-dependent bicarbonate secretion. J Clin Invest 2009;119:2613-22.
    • (2009) J Clin Invest , vol.119 , pp. 2613-2622
    • Garcia, M.A.1    Yang, N.2    Quinton, P.M.3
  • 31
    • 84864313785 scopus 로고    scopus 로고
    • Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype
    • Gustafsson JK, Ermund A, Ambort D, et al. Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype. J Exp Med 2012;209:1263-72.
    • (2012) J Exp Med , vol.209 , pp. 1263-1272
    • Gustafsson, J.K.1    Ermund, A.2    Ambort, D.3
  • 32
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995;29:777-807.
    • (1995) Annu Rev Genet , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.C.2
  • 33
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-4.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 34
    • 0033618404 scopus 로고    scopus 로고
    • C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation
    • Haardt M, Benharouga M, Lechardeur D, Kartner N, Lukacs GL. C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation. J Biol Chem 1999;274:21873-7.
    • (1999) J Biol Chem , vol.274 , pp. 21873-21877
    • Haardt, M.1    Benharouga, M.2    Lechardeur, D.3    Kartner, N.4    Lukacs, G.L.5
  • 35
    • 0035900647 scopus 로고    scopus 로고
    • When the message goes awry: Diseaseproducing mutations that influence mRNA content and performance
    • Mendell JT, Dietz HC. When the message goes awry: diseaseproducing mutations that influence mRNA content and performance. Cell 2001;107:411-4.
    • (2001) Cell , vol.107 , pp. 411-414
    • Mendell, J.T.1    Dietz, H.C.2
  • 36
    • 0842324676 scopus 로고    scopus 로고
    • Role of quality control pathways in human diseases involving protein misfolding
    • Welch WJ. Role of quality control pathways in human diseases involving protein misfolding. Semin Cell Dev Biol 2004;15:31-8.
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 31-38
    • Welch, W.J.1
  • 37
    • 0026781952 scopus 로고
    • Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
    • Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992;358:761-4.
    • (1992) Nature , vol.358 , pp. 761-764
    • Denning, G.M.1    Anderson, M.P.2    Amara, J.F.3    Marshall, J.4    Smith, A.E.5    Welsh, M.J.6
  • 38
    • 0026753172 scopus 로고
    • Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia
    • Denning GM, Ostedgaard LS, Welsh MJ. Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia. J Cell Biol 1992;118:551-9.
    • (1992) J Cell Biol , vol.118 , pp. 551-559
    • Denning, G.M.1    Ostedgaard, L.S.2    Welsh, M.J.3
  • 39
    • 0027380236 scopus 로고
    • The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells
    • Lukacs GL, Chang XB, Bear C, et al. The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J Biol Chem 1993;268:21592-8.
    • (1993) J Biol Chem , vol.268 , pp. 21592-21598
    • Lukacs, G.L.1    Chang, X.B.2    Bear, C.3
  • 40
    • 0026325533 scopus 로고
    • Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation
    • Dalemans W, Barbry P, Champigny G, et al. Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 1991;354:526-8.
    • (1991) Nature , vol.354 , pp. 526-528
    • Dalemans, W.1    Barbry, P.2    Champigny, G.3
  • 41
    • 43549114493 scopus 로고    scopus 로고
    • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    • Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96.
    • (2008) J Cyst Fibros , vol.7 , pp. 179-196
    • Castellani, C.1    Cuppens, H.2    Macek, M.3
  • 42
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • 6
    • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993;3:151-6. 6
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 43
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508)
    • Kerem E, Corey M, Kerem BS, et al. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508). N Engl J Med 1990;323:1517-22.
    • (1990) N Engl J Med , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3
  • 44
    • 25844491194 scopus 로고    scopus 로고
    • Genetic modifiers of lung disease in cystic fibrosis
    • Drumm ML, Konstan MW, Schluchter MD, et al. Gene Modifier Study Group. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353:1443-53.
    • (2005) N Engl J Med , vol.353 , pp. 1443-1453
    • Drumm, M.L.1    Konstan, M.W.2    Schluchter, M.D.3
  • 45
    • 73249114731 scopus 로고    scopus 로고
    • Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    • Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 2009;106:18825-30.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 18825-18830
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3
  • 46
    • 0029904733 scopus 로고    scopus 로고
    • ATPase activity of the cystic fibrosis transmembrane conductance regulator
    • Li C, Ramjeesingh M, Wang W, et al. ATPase activity of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1996;271:28463-8.
    • (1996) J Biol Chem , vol.271 , pp. 28463-28468
    • Li, C.1    Ramjeesingh, M.2    Wang, W.3
  • 47
    • 33744831154 scopus 로고    scopus 로고
    • Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules
    • Van Goor F, Straley KS, Cao D, et al. Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol Lung Cell Mol Physiol 2006;290:L1117-30.
    • (2006) Am J Physiol Lung Cell Mol Physiol , vol.290 , pp. L1117-L1130
    • Van Goor, F.1    Straley, K.S.2    Cao, D.3
  • 48
    • 84875048537 scopus 로고    scopus 로고
    • Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle
    • Jih KY, Hwang TC. Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle. Proc Natl Acad Sci U S A 2013;110:4404-9.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 4404-4409
    • Jih, K.Y.1    Hwang, T.C.2
  • 49
    • 84879000844 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane regulator correctors and potentiators
    • Rowe SM, Verkman AS. Cystic fibrosis transmembrane regulator correctors and potentiators. Cold Spring Harb Perspect Med 2013;3:a009761.
    • (2013) Cold Spring Harb Perspect Med , vol.3 , pp. a009761
    • Rowe, S.M.1    Verkman, A.S.2
  • 50
    • 81755163563 scopus 로고    scopus 로고
    • Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
    • Van Goor F, Hadida S, Grootenhuis PD, et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc Natl Acad Sci U S A 2011;108:18843-8.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18843-18848
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3
  • 51
    • 84862909346 scopus 로고    scopus 로고
    • Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences
    • Mendoza JL, Schmidt A, Li Q, et al. Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences. Cell 2012;148:164-74.
    • (2012) Cell , vol.148 , pp. 164-174
    • Mendoza, J.L.1    Schmidt, A.2    Li, Q.3
  • 52
    • 84862908028 scopus 로고    scopus 로고
    • Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function
    • Rabeh WM, Bossard F, Xu H, et al. Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function. Cell 2012;148:150-63.
    • (2012) Cell , vol.148 , pp. 150-163
    • Rabeh, W.M.1    Bossard, F.2    Xu, H.3
  • 53
    • 77957309337 scopus 로고    scopus 로고
    • Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis
    • Wang C, Protasevich I, Yang Z, et al. Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis. Protein Sci 2010;19:1932-47.
    • (2010) Protein Sci , vol.19 , pp. 1932-1947
    • Wang, C.1    Protasevich, I.2    Yang, Z.3
  • 54
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996;2:467-9.
    • (1996) Nat Med , vol.2 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 55
    • 8544253956 scopus 로고    scopus 로고
    • A faux 3'-UTR promotes aberrant termination and triggers nonsensemediated mRNA decay
    • Amrani N, Ganesan R, Kervestin S, Mangus DA, Ghosh S, Jacobson A. A faux 3'-UTR promotes aberrant termination and triggers nonsensemediated mRNA decay. Nature 2004;432:112-8.
    • (2004) Nature , vol.432 , pp. 112-118
    • Amrani, N.1    Ganesan, R.2    Kervestin, S.3    Mangus, D.A.4    Ghosh, S.5    Jacobson, A.6
  • 56
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91.
    • (2007) Nature , vol.447 , pp. 87-91
    • Welch, E.M.1    Barton, E.R.2    Zhuo, J.3
  • 57
    • 65649136885 scopus 로고    scopus 로고
    • Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations
    • Nudelman I, Rebibo-Sabbah A, Cherniavsky M, et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 2009;52:2836-45.
    • (2009) J Med Chem , vol.52 , pp. 2836-2845
    • Nudelman, I.1    Rebibo-Sabbah, A.2    Cherniavsky, M.3
  • 58
    • 80755133472 scopus 로고    scopus 로고
    • Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54
    • Rowe SM, Sloane P, Tang LP, et al. Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54. J Mol Med (Berl) 2011;89:1149-61.
    • (2011) J Mol Med (Berl) , vol.89 , pp. 1149-1161
    • Rowe, S.M.1    Sloane, P.2    Tang, L.P.3
  • 59
    • 84898715557 scopus 로고    scopus 로고
    • Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor
    • Xue X, Mutyam V, Tang L, et al. Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor. Am J Respir Cell Mol Biol 2014;50:805-16.
    • (2014) Am J Respir Cell Mol Biol , vol.50 , pp. 805-816
    • Xue, X.1    Mutyam, V.2    Tang, L.3
  • 60
    • 41149111377 scopus 로고    scopus 로고
    • PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
    • Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 2008;105:2064-9.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2064-2069
    • Du, M.1    Liu, X.2    Welch, E.M.3    Hirawat, S.4    Peltz, S.W.5    Bedwell, D.M.6
  • 61
    • 68049143467 scopus 로고    scopus 로고
    • CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium
    • Zhang L, Button B, Gabriel SE, et al. CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium. PLoS Biol 2009;7:e1000155.
    • (2009) PLoS Biol , vol.7 , pp. e1000155
    • Zhang, L.1    Button, B.2    Gabriel, S.E.3
  • 62
    • 84865853894 scopus 로고    scopus 로고
    • Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
    • Flume PA, Liou TG, Borowitz DS, et al. VX 08-770-104 Study Group. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 2012;142:718-24.
    • (2012) Chest , vol.142 , pp. 718-724
    • Flume, P.A.1    Liou, T.G.2    Borowitz, D.S.3
  • 63
    • 84904002908 scopus 로고    scopus 로고
    • A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: A phase 2 randomised controlled trial
    • Boyle MP, Bell SC, Konstan MW, et al. VX09-809-102 study group. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2014;2:527-38.
    • (2014) Lancet Respir Med , vol.2 , pp. 527-538
    • Boyle, M.P.1    Bell, S.C.2    Konstan, M.W.3
  • 64
    • 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
    • Clancy JP, Rowe SM, Accurso FJ, et al. 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 2012;67:12-8.
    • (2012) Thorax , vol.67 , pp. 12-18
    • Clancy, J.P.1    Rowe, S.M.2    Accurso, F.J.3
  • 65
    • 84879410121 scopus 로고    scopus 로고
    • Mechanism-based corrector combination restores ΔF508-CFTR folding and function
    • Okiyoneda T, Veit G, Dekkers JF, et al. Mechanism-based corrector combination restores ΔF508-CFTR folding and function. Nat Chem Biol 2013;9:444-54.
    • (2013) Nat Chem Biol , vol.9 , pp. 444-454
    • Okiyoneda, T.1    Veit, G.2    Dekkers, J.F.3
  • 66
    • 34249662628 scopus 로고    scopus 로고
    • Cystic fibrosis: A disease of vulnerability to airway surface dehydration
    • Boucher RC. Cystic fibrosis: a disease of vulnerability to airway surface dehydration. Trends Mol Med 2007;13:231-40.
    • (2007) Trends Mol Med , vol.13 , pp. 231-240
    • Boucher, R.C.1
  • 67
    • 84861354967 scopus 로고    scopus 로고
    • Sildenafil acts as potentiator and corrector of CFTR but might be not suitable for the treatment of CF lung disease
    • Leier G, Bangel-Ruland N, Sobczak K, Knieper Y, Weber WM. Sildenafil acts as potentiator and corrector of CFTR but might be not suitable for the treatment of CF lung disease. Cell Physiol Biochem 2012;29:775-90.
    • (2012) Cell Physiol Biochem , vol.29 , pp. 775-790
    • Leier, G.1    Bangel-Ruland, N.2    Sobczak, K.3    Knieper, Y.4    Weber, W.M.5
  • 68
    • 79251582480 scopus 로고    scopus 로고
    • Inhaled phosphodiesterase type 5 inhibitors restore chloride transport in cystic fibrosis mice
    • Lubamba B, Lebacq J, Reychler G, et al. Inhaled phosphodiesterase type 5 inhibitors restore chloride transport in cystic fibrosis mice. Eur Respir J 2011;37:72-8.
    • (2011) Eur Respir J , vol.37 , pp. 72-78
    • Lubamba, B.1    Lebacq, J.2    Reychler, G.3
  • 69
    • 40649117683 scopus 로고    scopus 로고
    • Preclinical evidence that sildenafil and vardenafil activate chloride transport in cystic fibrosis
    • Lubamba B, Lecourt H, Lebacq J, et al. Preclinical evidence that sildenafil and vardenafil activate chloride transport in cystic fibrosis. Am J Respir Crit Care Med 2008;177:506-15.
    • (2008) Am J Respir Crit Care Med , vol.177 , pp. 506-515
    • Lubamba, B.1    Lecourt, H.2    Lebacq, J.3
  • 70
    • 34548407741 scopus 로고    scopus 로고
    • Pharmacological modulation of cGMP levels by phosphodiesterase 5 inhibitors as a therapeutic strategy for treatment of respiratory pathology in cystic fibrosis
    • Poschet JF, Timmins GS, Taylor-Cousar JL, et al. Pharmacological modulation of cGMP levels by phosphodiesterase 5 inhibitors as a therapeutic strategy for treatment of respiratory pathology in cystic fibrosis. Am J Physiol Lung Cell Mol Physiol 2007;293:L712-9.
    • (2007) Am J Physiol Lung Cell Mol Physiol , vol.293 , pp. L712-L719
    • Poschet, J.F.1    Timmins, G.S.2    Taylor-Cousar, J.L.3
  • 71
    • 77954939833 scopus 로고    scopus 로고
    • Hsp 70/Hsp 90 organizing protein as a nitrosylation target in cystic fibrosis therapy
    • Marozkina NV, Yemen S, Borowitz M, et al. Hsp 70/Hsp 90 organizing protein as a nitrosylation target in cystic fibrosis therapy. Proc Natl Acad Sci U S A 2010;107:11393-8.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 11393-11398
    • Marozkina, N.V.1    Yemen, S.2    Borowitz, M.3
  • 72
    • 84893766918 scopus 로고    scopus 로고
    • S-Nitrosothiols increases cystic fibrosis transmembrane regulator expression and maturation in the cell surface
    • Zaman K, Bennett D, Fraser-Butler M, et al. S-Nitrosothiols increases cystic fibrosis transmembrane regulator expression and maturation in the cell surface. Biochem Biophys Res Commun 2014;443:1257-62.
    • (2014) Biochem Biophys Res Commun , vol.443 , pp. 1257-1262
    • Zaman, K.1    Bennett, D.2    Fraser-Butler, M.3
  • 74
    • 13344286312 scopus 로고    scopus 로고
    • Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis
    • Zabner J, Ramsey BW, Meeker DP, et al. Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis. J Clin Invest 1996;97:1504-11.
    • (1996) J Clin Invest , vol.97 , pp. 1504-1511
    • Zabner, J.1    Ramsey, B.W.2    Meeker, D.P.3
  • 75
    • 0032718592 scopus 로고    scopus 로고
    • Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus
    • Harvey BG, Leopold PL, Hackett NR, et al. Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus. J Clin Invest 1999;104:1245-55.
    • (1999) J Clin Invest , vol.104 , pp. 1245-1255
    • Harvey, B.G.1    Leopold, P.L.2    Hackett, N.R.3
  • 76
    • 84856488316 scopus 로고    scopus 로고
    • Progress in gene and cell therapy for cystic fibrosis lung disease
    • Griesenbach U, Alton EW. Progress in gene and cell therapy for cystic fibrosis lung disease. Curr Pharm Des 2012;18:642-62.
    • (2012) Curr Pharm Des , vol.18 , pp. 642-662
    • Griesenbach, U.1    Alton, E.W.2
  • 77
    • 64549134676 scopus 로고    scopus 로고
    • Nonviral vectors for gene delivery
    • Mintzer MA, Simanek EE. Nonviral vectors for gene delivery. Chem Rev 2009;109:259-302.
    • (2009) Chem Rev , vol.109 , pp. 259-302
    • Mintzer, M.A.1    Simanek, E.E.2
  • 78
    • 0033924663 scopus 로고    scopus 로고
    • Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis
    • Hyde SC, Southern KW, Gileadi U, et al. Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis. Gene Ther 2000;7:1156-65.
    • (2000) Gene Ther , vol.7 , pp. 1156-1165
    • Hyde, S.C.1    Southern, K.W.2    Gileadi, U.3
  • 79
    • 0033586375 scopus 로고    scopus 로고
    • Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis: A doubleblind placebo-controlled trial
    • Alton EW, Stern M, Farley R, et al. Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis: a doubleblind placebo-controlled trial. Lancet 1999;353:947-54.
    • (1999) Lancet , vol.353 , pp. 947-954
    • Alton, E.W.1    Stern, M.2    Farley, R.3
  • 80
    • 43449111490 scopus 로고    scopus 로고
    • CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression
    • Hyde SC, Pringle IA, Abdullah S, et al. CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression. Nat Biotechnol 2008;26:549-51.
    • (2008) Nat Biotechnol , vol.26 , pp. 549-551
    • Hyde, S.C.1    Pringle, I.A.2    Abdullah, S.3
  • 82
    • 84864130324 scopus 로고    scopus 로고
    • Mucus penetrating nanoparticles: Biophysical tool and method of drug and gene delivery
    • Ensign LM, Schneider C, Suk JS, Cone R, Hanes J. Mucus penetrating nanoparticles: biophysical tool and method of drug and gene delivery. Adv Mater 2012;24:3887-94.
    • (2012) Adv Mater , vol.24 , pp. 3887-3894
    • Ensign, L.M.1    Schneider, C.2    Suk, J.S.3    Cone, R.4    Hanes, J.5
  • 83
    • 84893359543 scopus 로고    scopus 로고
    • Lung gene therapy with highly compacted DNA nanoparticles that overcome the mucus barrier
    • Suk JS, Kim AJ, Trehan K, et al. Lung gene therapy with highly compacted DNA nanoparticles that overcome the mucus barrier. J Control Release 2014;178:8-17.
    • (2014) J Control Release , vol.178 , pp. 8-17
    • Suk, J.S.1    Kim, A.J.2    Trehan, K.3
  • 84
    • 0034820864 scopus 로고    scopus 로고
    • Mucus altering agents as adjuncts for nonviral gene transfer to airway epithelium
    • Ferrari S, Kitson C, Farley R, et al. Mucus altering agents as adjuncts for nonviral gene transfer to airway epithelium. Gene Ther 2001;8:1380-6.
    • (2001) Gene Ther , vol.8 , pp. 1380-1386
    • Ferrari, S.1    Kitson, C.2    Farley, R.3
  • 85
    • 14044272234 scopus 로고    scopus 로고
    • Structure/property studies of polymeric gene delivery using a library of poly (beta-amino esters)
    • Anderson DG, Akinc A, Hossain N, Langer R. Structure/property studies of polymeric gene delivery using a library of poly (beta-amino esters). Mol Ther 2005;11:426-34.
    • (2005) Mol Ther , vol.11 , pp. 426-434
    • Anderson, D.G.1    Akinc, A.2    Hossain, N.3    Langer, R.4
  • 86
    • 84937152459 scopus 로고    scopus 로고
    • Highly compacted biodegradable DNA nanoparticles capable of overcoming the mucus barrier for inhaled lung gene therapy
    • Mastorakos P, da Silva AL, Chisholm J, et al. Highly compacted biodegradable DNA nanoparticles capable of overcoming the mucus barrier for inhaled lung gene therapy. Proc Natl Acad Sci U S A 2015;112:8720-5.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. 8720-8725
    • Mastorakos, P.1    Da Silva, A.L.2    Chisholm, J.3
  • 87
    • 84923106217 scopus 로고    scopus 로고
    • Therapeutic genome editing: Prospects and challenges
    • Cox DB, Platt RJ, Zhang F. Therapeutic genome editing: prospects and challenges. Nat Med 2015;21:121-31.
    • (2015) Nat Med , vol.21 , pp. 121-131
    • Cox, D.B.1    Platt, R.J.2    Zhang, F.3
  • 88
    • 84902096048 scopus 로고    scopus 로고
    • Development and applications of CRISPR-Cas9 for genome engineering
    • Hsu PD, Lander ES, Zhang F. Development and applications of CRISPR-Cas9 for genome engineering. Cell 2014;157:1262-78.
    • (2014) Cell , vol.157 , pp. 1262-1278
    • Hsu, P.D.1    Lander, E.S.2    Zhang, F.3
  • 89
    • 84890033064 scopus 로고    scopus 로고
    • Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients
    • Schwank G, Koo BK, Sasselli V, et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 2013;13:653-8.
    • (2013) Cell Stem Cell , vol.13 , pp. 653-658
    • Schwank, G.1    Koo, B.K.2    Sasselli, V.3
  • 90
    • 2542626706 scopus 로고    scopus 로고
    • Reversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion
    • Zamecnik PC, Raychowdhury MK, Tabatadze DR, Cantiello HF. Reversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion. Proc Natl Acad Sci U S A 2004;101:8150-5.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 8150-8155
    • Zamecnik, P.C.1    Raychowdhury, M.K.2    Tabatadze, D.R.3    Cantiello, H.F.4
  • 91
    • 84878970875 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation
    • Davies JC, Wainwright CE, Canny GJ, et al. VX08-770-103 (ENVISION) Study Group. 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 2013;187:1219-25.
    • (2013) Am J Respir Crit Care Med , vol.187 , pp. 1219-1225
    • Davies, J.C.1    Wainwright, C.E.2    Canny, G.J.3
  • 92
    • 84911493956 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation
    • De Boeck K, Munck A, Walker S, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros 2014;13:674-80.
    • (2014) J Cyst Fibros , vol.13 , pp. 674-680
    • De Boeck, K.1    Munck, A.2    Walker, S.3
  • 93
    • 84958107856 scopus 로고    scopus 로고
    • Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2-5 years with cystic fibrosis and a CFTR gating mutation (KIWI): An open-label, single-arm study
    • Davies JC, Cunningham S, Harris WT, et al. KIWI Study Group. Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2-5 years with cystic fibrosis and a CFTR gating mutation (KIWI): an open-label, single-arm study. Lancet Respir Med 2016; S2213-2600 (15) 00545-7.
    • (2016) Lancet Respir Med , vol.S2213-2600 , Issue.15 , pp. 00545-00547
    • Davies, J.C.1    Cunningham, S.2    Harris, W.T.3
  • 94
    • 84919770501 scopus 로고    scopus 로고
    • Clinical drug-drug interaction assessment of ivacaftor as a potential inhibitor of cytochrome P450 and P-glycoprotein
    • Robertson SM, Luo X, Dubey N, et al. Clinical drug-drug interaction assessment of ivacaftor as a potential inhibitor of cytochrome P450 and P-glycoprotein. J Clin Pharmacol 2015;55:56-62.
    • (2015) J Clin Pharmacol , vol.55 , pp. 56-62
    • Robertson, S.M.1    Luo, X.2    Dubey, N.3
  • 95
    • 84906952377 scopus 로고    scopus 로고
    • GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis
    • Rowe SM, Heltshe SL, Gonska T, et al. GOAL Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med 2014;190:175-84.
    • (2014) Am J Respir Crit Care Med , vol.190 , pp. 175-184
    • Rowe, S.M.1    Heltshe, S.L.2    Gonska, T.3
  • 96
    • 84935511737 scopus 로고    scopus 로고
    • GOAL (the G551D Observation-AL) Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network. Pseudomonas aeruginosa in cystic fibrosis patients with G551D-CFTR treated with ivacaftor
    • Heltshe SL, Mayer-Hamblett N, Burns JL, et al. GOAL (the G551D Observation-AL) Investigators of the Cystic Fibrosis Foundation Therapeutics Development Network. Pseudomonas aeruginosa in cystic fibrosis patients with G551D-CFTR treated with ivacaftor. Clin Infect Dis 2015;60:703-12.
    • (2015) Clin Infect Dis , vol.60 , pp. 703-712
    • Heltshe, S.L.1    Mayer-Hamblett, N.2    Burns, J.L.3
  • 97
    • 84918774941 scopus 로고    scopus 로고
    • Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: A phase 3, open-label extension study (PERSIST)
    • McKone EF, Borowitz D, Drevinek P, et al. VX08-770-105 (PERSIST) Study Group. Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST). Lancet Respir Med 2014;2:902-10.
    • (2014) Lancet Respir Med , vol.2 , pp. 902-910
    • McKone, E.F.1    Borowitz, D.2    Drevinek, P.3
  • 98
    • 84943328860 scopus 로고    scopus 로고
    • Sustained benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data
    • Sawicki GS, McKone EF, Pasta DJ, et al. Sustained benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data. Am J Respir Crit Care Med 2015;192:836-42.
    • (2015) Am J Respir Crit Care Med , vol.192 , pp. 836-842
    • Sawicki, G.S.1    McKone, E.F.2    Pasta, D.J.3
  • 99
    • 84959544874 scopus 로고    scopus 로고
    • VX11-770-901 investigators. Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States
    • Taylor-Cousar J, Niknian M, Gilmartin G, Pilewski JM. VX11-770-901 investigators. Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. J Cyst Fibros 2016;15:116-22.
    • (2016) J Cyst Fibros , vol.15 , pp. 116-122
    • Taylor-Cousar, J.1    Niknian, M.2    Gilmartin, G.3    Pilewski, J.M.4
  • 100
    • 84903829603 scopus 로고    scopus 로고
    • Effects of ivacaftor in patients with cystic fibrosis who carry the G551D mutation and have severe lung disease
    • Barry PJ, Plant BJ, Nair A, et al. Effects of ivacaftor in patients with cystic fibrosis who carry the G551D mutation and have severe lung disease. Chest 2014;146:152-8.
    • (2014) Chest , vol.146 , pp. 152-158
    • Barry, P.J.1    Plant, B.J.2    Nair, A.3
  • 101
    • 84888059709 scopus 로고    scopus 로고
    • Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation
    • Hebestreit H, Sauer-Heilborn A, Fischer R, Käding M, Mainz JG. Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation. J Cyst Fibros 2013;12:599-603.
    • (2013) J Cyst Fibros , vol.12 , pp. 599-603
    • Hebestreit, H.1    Sauer-Heilborn, A.2    Fischer, R.3    Käding, M.4    Mainz, J.G.5
  • 102
    • 84946490523 scopus 로고    scopus 로고
    • Effect of ivacaftor therapy on exhaled nitric oxide in patients with cystic fibrosis
    • Grasemann H, Gonska T, Avolio J, Klingel M, Tullis E, Ratjen F. Effect of ivacaftor therapy on exhaled nitric oxide in patients with cystic fibrosis. J Cyst Fibros 2015;14:727-32.
    • (2015) J Cyst Fibros , vol.14 , pp. 727-732
    • Grasemann, H.1    Gonska, T.2    Avolio, J.3    Klingel, M.4    Tullis, E.5    Ratjen, F.6
  • 103
    • 84928914403 scopus 로고    scopus 로고
    • Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation
    • Bernarde C, Keravec M, Mounier J, et al. Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation. PLoS One 2015;10:e0124124.
    • (2015) PLoS One , vol.10 , pp. e0124124
    • Bernarde, C.1    Keravec, M.2    Mounier, J.3
  • 104
    • 84910091455 scopus 로고    scopus 로고
    • Improvement in bronchiectasis on CT imaging in a pediatric patient with cystic fibrosis on ivacaftor therapy
    • Hayes D Jr, Long FR, McCoy KS, Sheikh SI. Improvement in bronchiectasis on CT imaging in a pediatric patient with cystic fibrosis on ivacaftor therapy. Respiration 2014;88:345.
    • (2014) Respiration , vol.88 , pp. 345
    • Hayes, D.1    Long, F.R.2    McCoy, K.S.3    Sheikh, S.I.4
  • 105
    • 84918798993 scopus 로고    scopus 로고
    • Computed tomography correlates with improvement with ivacaftor in cystic fibrosis patients with G551D mutation
    • Sheikh SI, Long FR, McCoy KS, Johnson T, Ryan-Wenger NA, Hayes D Jr. Computed tomography correlates with improvement with ivacaftor in cystic fibrosis patients with G551D mutation. J Cyst Fibros 2015;14:84-9.
    • (2015) J Cyst Fibros , vol.14 , pp. 84-89
    • Sheikh, S.I.1    Long, F.R.2    McCoy, K.S.3    Johnson, T.4    Ryan-Wenger, N.A.5    Hayes, D.6
  • 106
    • 84907590323 scopus 로고    scopus 로고
    • CT imaging of pediatric patients with cystic fibrosis on ivacaftor therapy
    • Hayes D Jr, Long FR, McCoy KS, Sheikh SI. CT imaging of pediatric patients with cystic fibrosis on ivacaftor therapy. Lung 2014;192:823-4.
    • (2014) Lung , vol.192 , pp. 823-824
    • Hayes, D.1    Long, F.R.2    McCoy, K.S.3    Sheikh, S.I.4
  • 108
    • 84922515561 scopus 로고    scopus 로고
    • Medical reversal of chronic sinusitis in a cystic fibrosis patient with ivacaftor
    • Chang EH, Tang XX, Shah VS, et al. Medical reversal of chronic sinusitis in a cystic fibrosis patient with ivacaftor. Int Forum Allergy Rhinol 2015;5:178-81.
    • (2015) Int Forum Allergy Rhinol , vol.5 , pp. 178-181
    • Chang, E.H.1    Tang, X.X.2    Shah, V.S.3
  • 109
    • 84907843577 scopus 로고    scopus 로고
    • Improvement of sinus disease in cystic fibrosis with ivacaftor therapy
    • Hayes D Jr, McCoy KS, Sheikh SI. Improvement of sinus disease in cystic fibrosis with ivacaftor therapy. Am J Respir Crit Care Med 2014;190:468.
    • (2014) Am J Respir Crit Care Med , vol.190 , pp. 468
    • Hayes, D.1    McCoy, K.S.2    Sheikh, S.I.3
  • 110
    • 84921381430 scopus 로고    scopus 로고
    • Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation
    • Sheikh SI, Long FR, McCoy KS, Johnson T, Ryan-Wenger NA, Hayes D Jr. Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation. Clin Otolaryngol 2015;40:16-21.
    • (2015) Clin Otolaryngol , vol.40 , pp. 16-21
    • Sheikh, S.I.1    Long, F.R.2    McCoy, K.S.3    Johnson, T.4    Ryan-Wenger, N.A.5    Hayes, D.6
  • 111
    • 84882625940 scopus 로고    scopus 로고
    • Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: A small pilot study
    • Bellin MD, Laguna T, Leschyshyn J, et al. Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: a small pilot study. Pediatr Diabetes 2013;14:417-21.
    • (2013) Pediatr Diabetes , vol.14 , pp. 417-421
    • Bellin, M.D.1    Laguna, T.2    Leschyshyn, J.3
  • 112
    • 84969606647 scopus 로고    scopus 로고
    • CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation
    • online 4 Nov
    • Tsabari R, Elyashar HI, Cymberknowh MC, et al. CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation. J Cyst Fibros 2015; online 4 Nov; S1569-1993 (15) 00255-6.
    • (2015) J Cyst Fibros , vol.S1569-1993 , Issue.15 , pp. 00255-00256
    • Tsabari, R.1    Elyashar, H.I.2    Cymberknowh, M.C.3
  • 113
    • 84908147590 scopus 로고    scopus 로고
    • Resolution of cystic fibrosisrelated diabetes with ivacaftor therapy
    • Hayes D Jr, McCoy KS, Sheikh SI. Resolution of cystic fibrosisrelated diabetes with ivacaftor therapy. Am J Respir Crit Care Med 2014;190:590-1.
    • (2014) Am J Respir Crit Care Med , vol.190 , pp. 590-591
    • Hayes, D.1    McCoy, K.S.2    Sheikh, S.I.3
  • 115
    • 0027408231 scopus 로고
    • Mutations in CFTR associated with mild-disease-form Cl-channels with altered pore properties
    • Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ. Mutations in CFTR associated with mild-disease-form Cl-channels with altered pore properties. Nature 1993;362:160-4.
    • (1993) Nature , vol.362 , 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
  • 116
    • 84880044346 scopus 로고    scopus 로고
    • A new era in the treatment of cystic fibrosis: Correction of the underlying CFTR defect
    • Boyle MP, De Boeck K. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med 2013;1:158-63.
    • (2013) Lancet Respir Med , vol.1 , pp. 158-163
    • Boyle, M.P.1    De Boeck, K.2
  • 117
    • 84943138352 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: A double-blind, randomised controlled trial
    • Moss RB, Flume PA, Elborn JS, et al. VX11-770-110 (KONDUCT) Study Group. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med 2015;3:524-33.
    • (2015) Lancet Respir Med , vol.3 , pp. 524-533
    • Moss, R.B.1    Flume, P.A.2    Elborn, J.S.3
  • 118
    • 84937035647 scopus 로고    scopus 로고
    • Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR
    • Wainwright CE, Elborn JS, Ramsey BW, et al. TRAFFIC Study Group TRANSPORT Study Group. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 2015;373:220-31.
    • (2015) N Engl J Med , vol.373 , pp. 220-231
    • Wainwright, C.E.1    Elborn, J.S.2    Ramsey, B.W.3
  • 119
    • 84926394867 scopus 로고    scopus 로고
    • Phase 2 studies reveal additive effects of VX-661, an investigational CFTR corrector, and ivacaftor, a CFTR potentiator, in patients who carry the F508del-CFTR mutation
    • Pilewski JM, Donaldson SH, Cooke J, et al. Phase 2 studies reveal additive effects of VX-661, an investigational CFTR corrector, and ivacaftor, a CFTR potentiator, in patients who carry the F508del-CFTR mutation. Pediatr Pulmonol 2014;49(S38):157-8.
    • (2014) Pediatr Pulmonol , vol.49 , Issue.S38 , pp. 157-158
    • Pilewski, J.M.1    Donaldson, S.H.2    Cooke, J.3
  • 121
    • 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
    • Wilschanski M, Famini C, Blau H, et al. 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 2000;161:860-5.
    • (2000) Am J Respir Crit Care Med , vol.161 , pp. 860-865
    • Wilschanski, M.1    Famini, C.2    Blau, H.3
  • 122
    • 34247200483 scopus 로고    scopus 로고
    • In vitro prediction of stopcodon suppression by intravenous gentamicin in patients with cystic fibrosis: A pilot study
    • Sermet-Gaudelus I, Renouil M, Fajac A, et al. In vitro prediction of stopcodon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 2007;5:5.
    • (2007) BMC Med , vol.5 , pp. 5
    • Sermet-Gaudelus, I.1    Renouil, M.2    Fajac, A.3
  • 123
    • 0034961464 scopus 로고    scopus 로고
    • Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
    • Clancy JP, Bebök Z, Ruiz F, et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 2001;163:1683-92.
    • (2001) Am J Respir Crit Care Med , vol.163 , pp. 1683-1692
    • Clancy, J.P.1    Bebök, Z.2    Ruiz, F.3
  • 124
    • 0141863491 scopus 로고    scopus 로고
    • Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
    • Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349:1433-41.
    • (2003) N Engl J Med , vol.349 , pp. 1433-1441
    • Wilschanski, M.1    Yahav, Y.2    Yaacov, Y.3
  • 125
    • 50149098401 scopus 로고    scopus 로고
    • Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: A prospective phase II trial
    • Kerem E, Hirawat S, Armoni S, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372:719-27.
    • (2008) Lancet , vol.372 , pp. 719-727
    • Kerem, E.1    Hirawat, S.2    Armoni, S.3
  • 126
    • 79960187095 scopus 로고    scopus 로고
    • Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
    • Wilschanski M, Miller LL, Shoseyov D, et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J 2011;38:59-69.
    • (2011) Eur Respir J , vol.38 , pp. 59-69
    • Wilschanski, M.1    Miller, L.L.2    Shoseyov, D.3
  • 127
    • 78349290383 scopus 로고    scopus 로고
    • Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
    • Sermet-Gaudelus I, Boeck KD, Casimir GJ, et al. 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 2010;182:1262-72.
    • (2010) Am J Respir Crit Care Med , vol.182 , pp. 1262-1272
    • Sermet-Gaudelus, I.1    Boeck, K.D.2    Casimir, G.J.3
  • 128
    • 84904016376 scopus 로고    scopus 로고
    • Cystic Fibrosis Ataluren Study Group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: A randomised, double-blind, placebo-controlled phase 3 trial
    • Kerem E, Konstan MW, De Boeck K, et al. Cystic Fibrosis Ataluren Study Group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med 2014;2:539-47.
    • (2014) Lancet Respir Med , vol.2 , pp. 539-547
    • Kerem, E.1    Konstan, M.W.2    De Boeck, K.3
  • 129
    • 10744227749 scopus 로고    scopus 로고
    • Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: A multicenter, double-blind, placebo-controlled trial
    • Moss RB, Rodman D, Spencer LT, et al. Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: a multicenter, double-blind, placebo-controlled trial. Chest 2004;125:509-21.
    • (2004) Chest , vol.125 , pp. 509-521
    • Moss, R.B.1    Rodman, D.2    Spencer, L.T.3
  • 130
    • 34548512049 scopus 로고    scopus 로고
    • Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: A randomized placebo-controlled phase 2B trial
    • Moss RB, Milla C, Colombo J, et al. Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial. Hum Gene Ther 2007;18:726-32.
    • (2007) Hum Gene Ther , vol.18 , pp. 726-732
    • Moss, R.B.1    Milla, C.2    Colombo, J.3
  • 132
    • 80054087238 scopus 로고    scopus 로고
    • Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung
    • McLachlan G, Davidson H, Holder E, et al. Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung. Gene Ther 2011;18:996-1005.
    • (2011) Gene Ther , vol.18 , pp. 996-1005
    • McLachlan, G.1    Davidson, H.2    Holder, E.3
  • 133
    • 84885388155 scopus 로고    scopus 로고
    • The safety profile of a cationic lipidmediated cystic fibrosis gene transfer agent following repeated monthly aerosol administration to sheep
    • Alton EW, Baker A, Baker E, et al. The safety profile of a cationic lipidmediated cystic fibrosis gene transfer agent following repeated monthly aerosol administration to sheep. Biomaterials 2013;34:10267-77.
    • (2013) Biomaterials , vol.34 , pp. 10267-10277
    • Alton, E.W.1    Baker, A.2    Baker, E.3
  • 134
    • 84891742682 scopus 로고    scopus 로고
    • Toxicology study assessing efficacy and safety of repeated administration of lipid/DNA complexes to mouse lung
    • Alton EW, Boyd AC, Cheng SH, et al. Toxicology study assessing efficacy and safety of repeated administration of lipid/DNA complexes to mouse lung. Gene Ther 2014;21:89-95.
    • (2014) Gene Ther , vol.21 , pp. 89-95
    • Alton, E.W.1    Boyd, A.C.2    Cheng, S.H.3
  • 135
    • 84941179388 scopus 로고    scopus 로고
    • UK Cystic Fibrosis Gene Therapy Consortium. Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: A randomised, double-blind, placebocontrolled, phase 2b trial
    • Alton EW, Armstrong DK, Ashby D, et al. UK Cystic Fibrosis Gene Therapy Consortium. Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebocontrolled, phase 2b trial. Lancet Respir Med 2015;3:684-91.
    • (2015) Lancet Respir Med , vol.3 , pp. 684-691
    • Alton, E.W.1    Armstrong, D.K.2    Ashby, D.3
  • 136
    • 84901006449 scopus 로고    scopus 로고
    • European Cystic Fibrosis Society. European Cystic Fibrosis Society standards of care: Best practice guidelines
    • Smyth AR, Bell SC, Bojcin S, et al. European Cystic Fibrosis Society. European Cystic Fibrosis Society standards of care: best practice guidelines. J Cyst Fibros 2014;13(Suppl 1):S23-42.
    • (2014) J Cyst Fibros , vol.13 , pp. S23-S42
    • Smyth, A.R.1    Bell, S.C.2    Bojcin, S.3
  • 137
    • 84875829440 scopus 로고    scopus 로고
    • Pulmonary Clinical Practice Guidelines Committee. Cystic fibrosis pulmonary guidelines. Chronic medications for maintenance of lung health
    • Mogayzel PJ Jr, Naureckas ET, Robinson KA, et al. Pulmonary Clinical Practice Guidelines Committee. Cystic fibrosis pulmonary guidelines. Chronic medications for maintenance of lung health. Am J Respir Crit Care Med 2013;187:680-9.
    • (2013) Am J Respir Crit Care Med , vol.187 , pp. 680-689
    • Mogayzel, P.J.1    Naureckas, E.T.2    Robinson, K.A.3
  • 138
    • 84897399962 scopus 로고    scopus 로고
    • Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: A systematic review and costeffectiveness analysis
    • Whiting P, Al M, Burgers L, et al. Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: a systematic review and costeffectiveness analysis. Health Technol Assess 2014;18:1-106.
    • (2014) Health Technol Assess , vol.18 , pp. 1-106
    • Whiting, P.1    Al, M.2    Burgers, L.3
  • 139
    • 84871981271 scopus 로고    scopus 로고
    • Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: The ivacaftor experience
    • Durmowicz AG, Witzmann KA, Rosebraugh CJ, Chowdhury BA. Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: the ivacaftor experience. Chest 2013;143:14-8.
    • (2013) Chest , vol.143 , pp. 14-18
    • Durmowicz, A.G.1    Witzmann, K.A.2    Rosebraugh, C.J.3    Chowdhury, B.A.4
  • 140
    • 84901009642 scopus 로고    scopus 로고
    • Sweat chloride is not a useful marker of clinical response to ivacaftor
    • Barry PJ, Jones AM, Webb AK, Horsley AR. Sweat chloride is not a useful marker of clinical response to ivacaftor. Thorax 2014;69:586-7.
    • (2014) Thorax , vol.69 , pp. 586-587
    • Barry, P.J.1    Jones, A.M.2    Webb, A.K.3    Horsley, A.R.4
  • 141
    • 84866067664 scopus 로고    scopus 로고
    • Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein
    • Wong AP, Bear CE, Chin S, et al. Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein. Nat Biotechnol 2012;30:876-82.
    • (2012) Nat Biotechnol , vol.30 , pp. 876-882
    • Wong, A.P.1    Bear, C.E.2    Chin, S.3
  • 142
    • 84880292828 scopus 로고    scopus 로고
    • A functional CFTR assay using primary cystic fibrosis intestinal organoids
    • Dekkers JF, Wiegerinck CL, de Jonge HR, et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat Med 2013;19:939-45.
    • (2013) Nat Med , vol.19 , pp. 939-945
    • Dekkers, J.F.1    Wiegerinck, C.L.2    De Jonge, H.R.3
  • 143
    • 84872780985 scopus 로고    scopus 로고
    • Method for quantitative study of airway functional microanatomy using micro-optical coherence tomography
    • Liu L, Chu KK, Houser GH, et al. Method for quantitative study of airway functional microanatomy using micro-optical coherence tomography. PLoS One 2013;8:e54473.
    • (2013) PLoS One , vol.8 , pp. e54473
    • Liu, L.1    Chu, K.K.2    Houser, G.H.3
  • 144
    • 78049312194 scopus 로고    scopus 로고
    • Individual (N-of-1) trials can be combined to give population comparative treatment effect estimates: Methodologic considerations
    • Zucker DR, Ruthazer R, Schmid CH. Individual (N-of-1) trials can be combined to give population comparative treatment effect estimates: methodologic considerations. J Clin Epidemiol 2010;63:1312-23.
    • (2010) J Clin Epidemiol , vol.63 , pp. 1312-1323
    • Zucker, D.R.1    Ruthazer, R.2    Schmid, C.H.3
  • 145
    • 84952064386 scopus 로고    scopus 로고
    • Utilization of an "N-of-1" study design to test the effect of ivacaftor in CF patients with residual CFTR function and FEV1 > 40% of Predicted
    • Nick JA, Rodman D, St Clair C, et al. Utilization of an "N-of-1" study design to test the effect of ivacaftor in CF patients with residual CFTR function and FEV1 > 40% of Predicted. Pediatr Pulmonol 2014;49(S38):188-9.
    • (2014) Pediatr Pulmonol , vol.49 , Issue.S38 , pp. 188-189
    • Nick, J.A.1    Rodman, D.2    St Clair, C.3
  • 146
    • 84878000440 scopus 로고    scopus 로고
    • Risk factors for bronchiectasis in children with cystic fibrosis
    • Sly PD, Gangell CL, Chen L, et al. AREST CF Investigators. Risk factors for bronchiectasis in children with cystic fibrosis. N Engl J Med 2013;368:1963-70.
    • (2013) N Engl J Med , vol.368 , pp. 1963-1970
    • Sly, P.D.1    Gangell, C.L.2    Chen, L.3
  • 147
    • 84882899722 scopus 로고    scopus 로고
    • Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Treatment complexity in cystic fibrosis: Trends over time and associations with site-specific outcomes
    • Sawicki GS, Ren CL, Konstan MW, Millar SJ, Pasta DJ, Quittner AL. Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Treatment complexity in cystic fibrosis: trends over time and associations with site-specific outcomes. J Cyst Fibros 2013;12:461-7.
    • (2013) J Cyst Fibros , vol.12 , pp. 461-467
    • Sawicki, G.S.1    Ren, C.L.2    Konstan, M.W.3    Millar, S.J.4    Pasta, D.J.5    Quittner, A.L.6
  • 148
    • 84907211027 scopus 로고    scopus 로고
    • Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression
    • Veit G, Avramescu RG, Perdomo D, et al. Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression. Sci Transl Med 2014;6:246ra97.
    • (2014) Sci Transl Med , vol.6 , pp. 246ra97
    • Veit, G.1    Avramescu, R.G.2    Perdomo, D.3
  • 149
    • 84907223425 scopus 로고    scopus 로고
    • Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis
    • Cholon DM, Quinney NL, Fulcher ML, et al. Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis. Sci Transl Med 2014;6:246ra96.
    • (2014) Sci Transl Med , vol.6 , pp. 246ra96
    • Cholon, D.M.1    Quinney, N.L.2    Fulcher, M.L.3
  • 150
    • 84907546443 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability
    • Liu X, Dawson DC. Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability. Biochemistry 2014;53:5613-8.
    • (2014) Biochemistry , vol.53 , pp. 5613-5618
    • Liu, X.1    Dawson, D.C.2
  • 151
    • 0013279518 scopus 로고
    • Cystic fibrosis of the pancreas
    • Andersen DH. Cystic fibrosis of the pancreas. J Chronic Dis 1958;7:58-90.
    • (1958) J Chronic Dis , vol.7 , pp. 58-90
    • Andersen, D.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.