-
1
-
-
51349100398
-
The prevalence of cystic fibrosis in the European Union
-
Farrell, P.M., The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 7 (2008), 450–453.
-
(2008)
J Cyst Fibros
, vol.7
, pp. 450-453
-
-
Farrell, P.M.1
-
2
-
-
0000471085
-
Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study
-
Anderson, D.H., Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study. Am J Dis Child 56 (1938), 344–399.
-
(1938)
Am J Dis Child
, vol.56
, pp. 344-399
-
-
Anderson, D.H.1
-
3
-
-
0020700816
-
Chloride impermeability in cystic fibrosis
-
Quinton, P.M., Chloride impermeability in cystic fibrosis. Nature 301 (1983), 421–422.
-
(1983)
Nature
, vol.301
, pp. 421-422
-
-
Quinton, P.M.1
-
4
-
-
0019490443
-
Measurements of nasal transepithelial electric potential differences in normal human subjects in vivo
-
Knowles, M.R., Carson, J.L., Collier, A.M., Gatzy, J.T., Boucher, R.C., Measurements of nasal transepithelial electric potential differences in normal human subjects in vivo. Am Rev Respir Dis 124 (1981), 484–490.
-
(1981)
Am Rev Respir Dis
, vol.124
, pp. 484-490
-
-
Knowles, M.R.1
Carson, J.L.2
Collier, A.M.3
Gatzy, J.T.4
Boucher, R.C.5
-
5
-
-
0024424270
-
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
-
Riordan, J.R., Rommens, J.M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 (1989), 1066–1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
-
6
-
-
0032912589
-
Structure and function of the CFTR chloride channel
-
Sheppard, D.N., Welsh, M.J., Structure and function of the CFTR chloride channel. Physiol Rev 79 (1999), S23–S45.
-
(1999)
Physiol Rev
, vol.79
, pp. S23-S45
-
-
Sheppard, D.N.1
Welsh, M.J.2
-
7
-
-
79957946294
-
Managing cystic fibrosis: strategies that increase life expectancy and improve quality of life
-
Cohen-Cymberknoh, M., Shoseyov, D., Kerem, E., Managing cystic fibrosis: strategies that increase life expectancy and improve quality of life. Am J Respir Crit Care Med 183 (2011), 1463–1471.
-
(2011)
Am J Respir Crit Care Med
, vol.183
, pp. 1463-1471
-
-
Cohen-Cymberknoh, M.1
Shoseyov, D.2
Kerem, E.3
-
8
-
-
43549114493
-
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
-
Castellani, C., Cuppens, H., Macek, M. Jr., Cassiman, J.J., Kerem, E., Durie, P., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7 (2008), 179–196.
-
(2008)
J Cyst Fibros
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek, M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
-
9
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
Sosnay, P.R., Siklosi, K.R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45 (2013), 1160–1167.
-
(2013)
Nat Genet
, vol.45
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
Van Goor, F.3
Kaniecki, K.4
Yu, H.5
Sharma, N.6
-
10
-
-
84877587139
-
Assessing the disease-liability of mutations in CFTR
-
Ferec, C., Cutting, G.R., Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med, 2, 2012, a009480.
-
(2012)
Cold Spring Harb Perspect Med
, vol.2
, pp. a009480
-
-
Ferec, C.1
Cutting, G.R.2
-
11
-
-
84874669588
-
The CFTR ion channel: gating, regulation, and anion permeation
-
Hwang, T.C., Kirk, K.L., The CFTR ion channel: gating, regulation, and anion permeation. Cold Spring Harb Perspect Med, 3, 2013, a009498.
-
(2013)
Cold Spring Harb Perspect Med
, vol.3
, pp. a009498
-
-
Hwang, T.C.1
Kirk, K.L.2
-
12
-
-
84921455260
-
Origins of cystic fibrosis lung disease
-
Stoltz, D.A., Meyerholz, D.K., Welsh, M.J., Origins of cystic fibrosis lung disease. N Engl J Med 372 (2015), 351–362.
-
(2015)
N Engl J Med
, vol.372
, pp. 351-362
-
-
Stoltz, D.A.1
Meyerholz, D.K.2
Welsh, M.J.3
-
13
-
-
84865305392
-
A periciliary brush promotes the lung health by separating the mucus layer from airway epithelia
-
Button, B., Cai, L.H., Ehre, C., Kesimer, M., Hill, D.B., Sheehan, J.K., et al. A periciliary brush promotes the lung health by separating the mucus layer from airway epithelia. Science 337 (2012), 937–941.
-
(2012)
Science
, vol.337
, pp. 937-941
-
-
Button, B.1
Cai, L.H.2
Ehre, C.3
Kesimer, M.4
Hill, D.B.5
Sheehan, J.K.6
-
14
-
-
0036194724
-
Mucus clearance as a primary innate defense mechanism for mammalian airways
-
Knowles, M.R., Boucher, R.C., Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest 109 (2002), 571–577.
-
(2002)
J Clin Invest
, vol.109
, pp. 571-577
-
-
Knowles, M.R.1
Boucher, R.C.2
-
15
-
-
48149090717
-
Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis
-
Quinton, P.M., Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis. Lancet 372 (2008), 415–417.
-
(2008)
Lancet
, vol.372
, pp. 415-417
-
-
Quinton, P.M.1
-
16
-
-
84863476402
-
Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung
-
Pezzulo, A.A., Tang, X.X., Hoegger, M.J., Alaiwa, M.H., Ramachandran, S., Moninger, T.O., et al. Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung. Nature 487 (2012), 109–113.
-
(2012)
Nature
, vol.487
, pp. 109-113
-
-
Pezzulo, A.A.1
Tang, X.X.2
Hoegger, M.J.3
Alaiwa, M.H.4
Ramachandran, S.5
Moninger, T.O.6
-
17
-
-
84905749581
-
Pathophysiology of cystic fibrosis lung disease
-
Mall, M.A., Boucher, R.C., Pathophysiology of cystic fibrosis lung disease. Eur Respir Monogr 64 (2014), 1–13.
-
(2014)
Eur Respir Monogr
, vol.64
, pp. 1-13
-
-
Mall, M.A.1
Boucher, R.C.2
-
18
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh, M.J., Smith, A.E., Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73 (1993), 1251–1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
19
-
-
0029616734
-
Cystic fibrosis: genotypic and phenotypic variations
-
Zielenski, J., Tsui, L.C., Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29 (1995), 777–807.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 777-807
-
-
Zielenski, J.1
Tsui, L.C.2
-
20
-
-
84942312604
-
Targeted therapies to improve CFTR function in cystic fibrosis
-
Brodlie, M., Haq, I.J., Roberts, K., Elborn, J.S., Targeted therapies to improve CFTR function in cystic fibrosis. Genome Med, 7, 2015, 101.
-
(2015)
Genome Med
, vol.7
, pp. 101
-
-
Brodlie, M.1
Haq, I.J.2
Roberts, K.3
Elborn, J.S.4
-
21
-
-
84940962718
-
Targeting ion channels in cystic fibrosis
-
Mall, M.A., Galietta, L.J., Targeting ion channels in cystic fibrosis. J Cyst Fibros 14 (2015), 561–570.
-
(2015)
J Cyst Fibros
, vol.14
, pp. 561-570
-
-
Mall, M.A.1
Galietta, L.J.2
-
22
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
Ramsey, B.W., Davies, J., McElvaney, N.G., Tullis, E., Bell, S.C., Drevinek, P., et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 365 (2011), 1663–1672.
-
(2011)
N Engl J Med
, vol.365
, pp. 1663-1672
-
-
Ramsey, B.W.1
Davies, J.2
McElvaney, N.G.3
Tullis, E.4
Bell, S.C.5
Drevinek, P.6
-
23
-
-
84878970875
-
Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation
-
Davies, J.C., Wainwright, C.E., Canny, G.J., Chilvers, M.A., Howenstine, M.S., Munck, A., et al. 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 (2013), 1219–1225.
-
(2013)
Am J Respir Crit Care Med
, vol.187
, 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
-
24
-
-
84918774941
-
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, E.F., Borowitz, D., Drevinek, P., Griese, M., Konstan, M.W., Wainwright, C., et al. 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 2 (2014), 902–910.
-
(2014)
Lancet Respir Med
, vol.2
, pp. 902-910
-
-
McKone, E.F.1
Borowitz, D.2
Drevinek, P.3
Griese, M.4
Konstan, M.W.5
Wainwright, C.6
-
25
-
-
84911493956
-
Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation
-
De Boeck, K., Munck, A., Walker, S., Faro, A., Hiatt, P., Gilmartin, G., et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros 13 (2014), 674–680.
-
(2014)
J Cyst Fibros
, vol.13
, pp. 674-680
-
-
De Boeck, K.1
Munck, A.2
Walker, S.3
Faro, A.4
Hiatt, P.5
Gilmartin, G.6
-
26
-
-
84943138352
-
Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial
-
Moss, R.B., Flume, P.A., Elborn, J.S., Cooke, J., Rowe, S.M., McColley, S.A., et al. 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 3 (2015), 524–533.
-
(2015)
Lancet Respir Med
, vol.3
, pp. 524-533
-
-
Moss, R.B.1
Flume, P.A.2
Elborn, J.S.3
Cooke, J.4
Rowe, S.M.5
McColley, S.A.6
-
27
-
-
84958107856
-
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, J.C., Cunningham, S., Harris, W.T., Lapey, A., Regelmann, W.E., Sawicki, G.S., et al. 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 4 (2016), 107–115.
-
(2016)
Lancet Respir Med
, vol.4
, pp. 107-115
-
-
Davies, J.C.1
Cunningham, S.2
Harris, W.T.3
Lapey, A.4
Regelmann, W.E.5
Sawicki, G.S.6
-
28
-
-
84959544874
-
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, J.M., Investigators VX. 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 15 (2016), 116–122.
-
(2016)
J Cyst Fibros
, vol.15
, pp. 116-122
-
-
Taylor-Cousar, J.1
Niknian, M.2
Gilmartin, G.3
Pilewski, J.M.4
-
29
-
-
84943328860
-
Sustained Benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data
-
Sawicki, G.S., McKone, E.F., Pasta, D.J., Millar, S.J., Wagener, J.S., Johnson, C.A., et al. Sustained Benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data. Am J Respir Crit Care Med 192 (2015), 836–842.
-
(2015)
Am J Respir Crit Care Med
, vol.192
, pp. 836-842
-
-
Sawicki, G.S.1
McKone, E.F.2
Pasta, D.J.3
Millar, S.J.4
Wagener, J.S.5
Johnson, C.A.6
-
30
-
-
84895072501
-
Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data
-
Accurso, F.J., Van Goor, F., Zha, J., Stone, A.J., Dong, Q., Ordonez, C.L., et al. Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data. J Cyst Fibros 13 (2014), 139–147.
-
(2014)
J Cyst Fibros
, vol.13
, pp. 139-147
-
-
Accurso, F.J.1
Van Goor, F.2
Zha, J.3
Stone, A.J.4
Dong, Q.5
Ordonez, C.L.6
-
31
-
-
81755163563
-
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
-
Van Goor, F., Hadida, S., Grootenhuis, P.D., Burton, B., Stack, J.H., Straley, K.S., 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 108 (2011), 18843–18848.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, 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
-
32
-
-
73249114731
-
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
-
Van Goor, F., Hadida, S., Grootenhuis, P.D., Burton, B., Cao, D., Neuberger, T., et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 106 (2009), 18825–18830.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18825-18830
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.D.3
Burton, B.4
Cao, D.5
Neuberger, T.6
-
33
-
-
84855202429
-
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
-
Clancy, J.P., Rowe, S.M., Accurso, F.J., Aitken, M.L., Amin, R.S., Ashlock, M.A., 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 67 (2012), 12–18.
-
(2012)
Thorax
, vol.67
, 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
-
34
-
-
84865853894
-
Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
-
Flume, P.A., Liou, T.G., Borowitz, D.S., Li, H., Yen, K., Ordonez, C.L., et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 142 (2012), 718–724.
-
(2012)
Chest
, vol.142
, 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
-
35
-
-
84937035647
-
Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR
-
Wainwright, C.E., Elborn, J.S., Ramsey, B.W., Marigowda, G., Huang, X., Cipolli, M., et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 373 (2015), 220–231.
-
(2015)
N Engl J Med
, vol.373
, pp. 220-231
-
-
Wainwright, C.E.1
Elborn, J.S.2
Ramsey, B.W.3
Marigowda, G.4
Huang, X.5
Cipolli, M.6
-
36
-
-
85020782535
-
Safety, tolerability, and pharmacodynamics of combination lumacaftor/ivacaftor therapy in patients aged 6-11 years with CF homozygous for the F508del-CFTR mutation
-
Milla, C., Ratjen, F., Marigowda, G., Liu, F., Waltz, D., Rosenfeld, M., Safety, tolerability, and pharmacodynamics of combination lumacaftor/ivacaftor therapy in patients aged 6-11 years with CF homozygous for the F508del-CFTR mutation. Pediatr Pulmonol, 51, 2016, S259.
-
(2016)
Pediatr Pulmonol
, vol.51
, pp. S259
-
-
Milla, C.1
Ratjen, F.2
Marigowda, G.3
Liu, F.4
Waltz, D.5
Rosenfeld, M.6
-
37
-
-
84907211027
-
Some gating potentiators, including VX-770, diminish DeltaF508-CFTR functional expression
-
Veit, G., Avramescu, R.G., Perdomo, D., Phuan, P.W., Bagdany, M., Apaja, P.M., et al. Some gating potentiators, including VX-770, diminish DeltaF508-CFTR functional expression. Sci Transl Med, 6, 2014, 246ra97.
-
(2014)
Sci Transl Med
, vol.6
, pp. 246ra97
-
-
Veit, G.1
Avramescu, R.G.2
Perdomo, D.3
Phuan, P.W.4
Bagdany, M.5
Apaja, P.M.6
-
38
-
-
84907223425
-
Potentiator ivacaftor abrogates pharmacological correction of DeltaF508 CFTR in cystic fibrosis
-
Cholon, D.M., Quinney, N.L., Fulcher, M.L., Esther, C.R. Jr., Das, J., Dokholyan, N.V., et al. Potentiator ivacaftor abrogates pharmacological correction of DeltaF508 CFTR in cystic fibrosis. Sci Transl Med, 6, 2014, 246ra96.
-
(2014)
Sci Transl Med
, vol.6
, pp. 246ra96
-
-
Cholon, D.M.1
Quinney, N.L.2
Fulcher, M.L.3
Esther, C.R.4
Das, J.5
Dokholyan, N.V.6
-
39
-
-
84980016718
-
Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids
-
Dekkers, J.F., Gogorza Gondra, R.A., Kruisselbrink, E., Vonk, A.M., Janssens, H.M., de Winter-de Groot, K.M., et al. Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids. Eur Respir J 48 (2016), 451–458.
-
(2016)
Eur Respir J
, vol.48
, pp. 451-458
-
-
Dekkers, J.F.1
Gogorza Gondra, R.A.2
Kruisselbrink, E.3
Vonk, A.M.4
Janssens, H.M.5
de Winter-de Groot, K.M.6
-
40
-
-
0029994529
-
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
-
Howard, M., Frizzell, R.A., Bedwell, D.M., Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2 (1996), 467–469.
-
(1996)
Nat Med
, vol.2
, pp. 467-469
-
-
Howard, M.1
Frizzell, R.A.2
Bedwell, D.M.3
-
41
-
-
0034073736
-
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., Rivlin, J., Augarten, A., Avital, A., 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 161 (2000), 860–865.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, pp. 860-865
-
-
Wilschanski, M.1
Famini, C.2
Blau, H.3
Rivlin, J.4
Augarten, A.5
Avital, A.6
-
42
-
-
78349290383
-
Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
-
Sermet-Gaudelus, I., Boeck, K.D., Casimir, G.J., Vermeulen, F., Leal, T., Mogenet, A., 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 182 (2010), 1262–1272.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 1262-1272
-
-
Sermet-Gaudelus, I.1
Boeck, K.D.2
Casimir, G.J.3
Vermeulen, F.4
Leal, T.5
Mogenet, A.6
-
43
-
-
50149098401
-
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
-
Kerem, E., Hirawat, S., Armoni, S., Yaakov, Y., Shoseyov, D., Cohen, M., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372 (2008), 719–727.
-
(2008)
Lancet
, vol.372
, pp. 719-727
-
-
Kerem, E.1
Hirawat, S.2
Armoni, S.3
Yaakov, Y.4
Shoseyov, D.5
Cohen, M.6
-
44
-
-
84904016376
-
Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial
-
Kerem, E., Konstan, M.W., De Boeck, K., Accurso, F.J., Sermet-Gaudelus, I., Wilschanski, M., et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med 2 (2014), 539–547.
-
(2014)
Lancet Respir Med
, vol.2
, 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
-
45
-
-
84956899678
-
Augmentation of CFTR maturation by S-nitrosoglutathione reductase
-
Zaman, K., Sawczak, V., Zaidi, A., Butler, M., Bennett, D., Getsy, P., et al. Augmentation of CFTR maturation by S-nitrosoglutathione reductase. Am J Physiol Lung Cell Mol Physiol 310 (2016), L263–L270.
-
(2016)
Am J Physiol Lung Cell Mol Physiol
, vol.310
, pp. L263-L270
-
-
Zaman, K.1
Sawczak, V.2
Zaidi, A.3
Butler, M.4
Bennett, D.5
Getsy, P.6
-
46
-
-
84929730645
-
Cystic fibrosis gene therapy in the UK and elsewhere
-
Griesenbach, U., Pytel, K.M., Alton, E.W., Cystic fibrosis gene therapy in the UK and elsewhere. Hum Gene Ther 26 (2015), 266–275.
-
(2015)
Hum Gene Ther
, vol.26
, pp. 266-275
-
-
Griesenbach, U.1
Pytel, K.M.2
Alton, E.W.3
-
47
-
-
84941179388
-
Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial
-
Alton, E.W., Armstrong, D.K., Ashby, D., Bayfield, K.J., Bilton, D., Bloomfield, E.V., et al. Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial. Lancet Respir Med 3 (2015), 684–691.
-
(2015)
Lancet Respir Med
, vol.3
, pp. 684-691
-
-
Alton, E.W.1
Armstrong, D.K.2
Ashby, D.3
Bayfield, K.J.4
Bilton, D.5
Bloomfield, E.V.6
-
48
-
-
84998812292
-
Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis
-
Alton, E.W., Beekman, J.M., Boyd, A.C., Brand, J., Carlon, M.S., Connolly, M.M., et al. Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis. Thorax 72 (2017), 137–147.
-
(2017)
Thorax
, vol.72
, pp. 137-147
-
-
Alton, E.W.1
Beekman, J.M.2
Boyd, A.C.3
Brand, J.4
Carlon, M.S.5
Connolly, M.M.6
-
49
-
-
84890033064
-
Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients
-
Schwank, G., Koo, B.K., Sasselli, V., Dekkers, J.F., Heo, I., Demircan, T., et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 13 (2013), 653–658.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 653-658
-
-
Schwank, G.1
Koo, B.K.2
Sasselli, V.3
Dekkers, J.F.4
Heo, I.5
Demircan, T.6
-
50
-
-
2542626706
-
Reversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion
-
Zamecnik, P.C., Raychowdhury, M.K., Tabatadze, D.R., Cantiello, H.F., 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 101 (2004), 8150–8155.
-
(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
-
51
-
-
77957767326
-
The cystic fibrosis transmembrane conductance regulator impedes proteolytic stimulation of the epithelial Na+ channel
-
Gentzsch, M., Dang, H., Dang, Y., Garcia-Caballero, A., Suchindran, H., Boucher, R.C., et al. The cystic fibrosis transmembrane conductance regulator impedes proteolytic stimulation of the epithelial Na+ channel. J Biol Chem 285 (2010), 32227–32232.
-
(2010)
J Biol Chem
, vol.285
, pp. 32227-32232
-
-
Gentzsch, M.1
Dang, H.2
Dang, Y.3
Garcia-Caballero, A.4
Suchindran, H.5
Boucher, R.C.6
-
52
-
-
0025236867
-
A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis
-
Knowles, M.R., Church, N.L., Waltner, W.E., Yankaskas, J.R., Gilligan, P., King, M., et al. A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis. N Engl J Med 322 (1990), 1189–1194.
-
(1990)
N Engl J Med
, vol.322
, 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
-
53
-
-
0027486593
-
No added benefit from nebulized amiloride in patients with cystic fibrosis
-
Graham, A., Hasani, A., Alton, E.W., Martin, G.P., Marriott, C., Hodson, M.E., et al. No added benefit from nebulized amiloride in patients with cystic fibrosis. Eur Respir J 6 (1993), 1243–1248.
-
(1993)
Eur Respir J
, vol.6
, pp. 1243-1248
-
-
Graham, A.1
Hasani, A.2
Alton, E.W.3
Martin, G.P.4
Marriott, C.5
Hodson, M.E.6
-
54
-
-
84884282606
-
ENaC inhibitors and airway re-hydration in cystic fibrosis: state of the art
-
Althaus, M., ENaC inhibitors and airway re-hydration in cystic fibrosis: state of the art. Curr Mol Pharmacol 6 (2013), 3–12.
-
(2013)
Curr Mol Pharmacol
, vol.6
, pp. 3-12
-
-
Althaus, M.1
-
55
-
-
84884213627
-
Pitfalls of drug development: lessons learned from trials of denufosol in cystic fibrosis
-
Moss, R.B., Pitfalls of drug development: lessons learned from trials of denufosol in cystic fibrosis. J Pediatr 162 (2013), 676–680.
-
(2013)
J Pediatr
, vol.162
, pp. 676-680
-
-
Moss, R.B.1
-
56
-
-
84928789447
-
Personalized medicine: Time for one-person trials
-
Schork, N.J., Personalized medicine: Time for one-person trials. Nature 520 (2015), 609–611.
-
(2015)
Nature
, vol.520
, pp. 609-611
-
-
Schork, N.J.1
-
57
-
-
84906952377
-
Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis
-
Rowe, S.M., Heltshe, S.L., Gonska, T., Donaldson, S.H., Borowitz, D., Gelfond, D., et al. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med 190 (2014), 175–184.
-
(2014)
Am J Respir Crit Care Med
, vol.190
, pp. 175-184
-
-
Rowe, S.M.1
Heltshe, S.L.2
Gonska, T.3
Donaldson, S.H.4
Borowitz, D.5
Gelfond, D.6
-
58
-
-
84940955622
-
Electronic monitoring reveals highly variable adherence patterns in patients prescribed ivacaftor
-
Siracusa, C.M., Ryan, J., Burns, L., Wang, Y., Zhang, N., Clancy, J.P., et al. Electronic monitoring reveals highly variable adherence patterns in patients prescribed ivacaftor. J Cyst Fibros 14 (2015), 621–626.
-
(2015)
J Cyst Fibros
, vol.14
, pp. 621-626
-
-
Siracusa, C.M.1
Ryan, J.2
Burns, L.3
Wang, Y.4
Zhang, N.5
Clancy, J.P.6
-
59
-
-
84882625940
-
Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: a small pilot study
-
Bellin, M.D., Laguna, T., Leschyshyn, J., Regelmann, W., Dunitz, J., Billings, J., et al. Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: a small pilot study. Pediatr Diabetes 14 (2013), 417–421.
-
(2013)
Pediatr Diabetes
, vol.14
, pp. 417-421
-
-
Bellin, M.D.1
Laguna, T.2
Leschyshyn, J.3
Regelmann, W.4
Dunitz, J.5
Billings, J.6
-
60
-
-
84941711856
-
Probing our moral values in health care: the pricing of specialty drugs
-
Reinhardt, U., Probing our moral values in health care: the pricing of specialty drugs. JAMA 314 (2015), 981–982.
-
(2015)
JAMA
, vol.314
, pp. 981-982
-
-
Reinhardt, U.1
-
62
-
-
84871438780
-
Assessing personalized medicines in Australia: a national framework for reviewing codependent technologies
-
Merlin, T., Farah, C., Schubert, C., Mitchell, A., Hiller, J.E., Ryan, P., Assessing personalized medicines in Australia: a national framework for reviewing codependent technologies. Med Decis Making 33 (2013), 333–342.
-
(2013)
Med Decis Making
, vol.33
, pp. 333-342
-
-
Merlin, T.1
Farah, C.2
Schubert, C.3
Mitchell, A.4
Hiller, J.E.5
Ryan, P.6
|