-
1
-
-
0034917716
-
The human ATP-binding cassette (ABC) transporter superfamily
-
Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001;11(7):1156–1166.
-
(2001)
Genome Res
, vol.11
, Issue.7
, pp. 1156-1166
-
-
Dean, M.1
Rzhetsky, A.2
Allikmets, R.3
-
2
-
-
54949112835
-
TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity
-
Caputo A, Caci E, Ferrera L, et al. TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science. 2008;322(5901):590–594.
-
(2008)
Science
, vol.322
, Issue.5901
, pp. 590-594
-
-
Caputo, A.1
Caci, E.2
Ferrera, L.3
-
3
-
-
0141839875
-
Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm
-
Wang XF, Zhou CX, Shi QX, et al. Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm. Nat Cell Biol. 2003;5(10):902–906.
-
(2003)
Nat Cell Biol
, vol.5
, Issue.10
, pp. 902-906
-
-
Wang, X.F.1
Zhou, C.X.2
Shi, Q.X.3
-
4
-
-
0038369932
-
CFTR directly mediates nucleotide-regulated glutathione flux
-
Kogan I, Ramjeesingh M, Li C, et al. CFTR directly mediates nucleotide-regulated glutathione flux. Embo J. 2003;22(9):1981–1989.
-
(2003)
Embo J
, vol.22
, Issue.9
, pp. 1981-1989
-
-
Kogan, I.1
Ramjeesingh, M.2
Li, C.3
-
5
-
-
0024424270
-
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(4922):1066–1073.
-
(1989)
Science
, vol.245
, Issue.4922
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
-
6
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160–1167.
-
(2013)
Nat Genet
, vol.45
, Issue.10
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
van Goor, F.3
-
7
-
-
84975744535
-
Cystic fibrosis
-
Elborn JS. Cystic fibrosis. Lancet. 2016;388(10059):2519–2531.
-
(2016)
Lancet
, vol.388
, Issue.10059
, pp. 2519-2531
-
-
Elborn, J.S.1
-
8
-
-
80053368675
-
New animal models of cystic fibrosis: What are they teaching us?
-
Keiser NW, Engelhardt JF. New animal models of cystic fibrosis: what are they teaching us? Curr Opin Pulm Med. 2011;17(6):478–483.
-
(2011)
Curr Opin Pulm Med
, vol.17
, Issue.6
, pp. 478-483
-
-
Keiser, N.W.1
Engelhardt, J.F.2
-
9
-
-
84990855968
-
Cystic fibrosis: A clinical view
-
Castellani C, Assael BM Cystic fibrosis: a clinical view. Cell Mol Life Sci. 2017;74(1):129–140.
-
(2017)
Cell Mol Life Sci
, vol.74
, Issue.1
, pp. 129-140
-
-
Castellani, C.1
Assael, B.M.2
-
10
-
-
84880030599
-
Management of comorbidities in older patients with cystic fibrosis
-
Plant BJ, Goss CH, Plant WD, et al. Management of comorbidities in older patients with cystic fibrosis. Lancet Respir Med. 2013;1(2):164–174.
-
(2013)
Lancet Respir Med
, vol.1
, Issue.2
, pp. 164-174
-
-
Plant, B.J.1
Goss, C.H.2
Plant, W.D.3
-
11
-
-
43549114493
-
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(3):179–196.
-
(2008)
J Cyst Fibros
, vol.7
, Issue.3
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek, M.3
-
12
-
-
0031292686
-
Cystic fibrosis in Jews: Frequency and mutation distribution
-
Kerem B, Chiba-Falek O, Kerem E Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test. 1997;1(1):35–39.
-
(1997)
Genet Test
, vol.1
, Issue.1
, pp. 35-39
-
-
Kerem, B.1
Chiba-Falek, O.2
Kerem, E.3
-
13
-
-
67349143664
-
European best practice guidelines for cystic fibrosis neonatal screening
-
Castellani C, Southern KW, Brownlee K, et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros. 2009;8(3):153–173.
-
(2009)
J Cyst Fibros
, vol.8
, Issue.3
, pp. 153-173
-
-
Castellani, C.1
Southern, K.W.2
Brownlee, K.3
-
14
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis foundation consensus report
-
Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr. 2008;153(2):S4–S14.
-
(2008)
J Pediatr
, vol.153
, Issue.2
, pp. S4-S14
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
-
15
-
-
33745809841
-
Cystic fibrosis: Terminology and diagnostic algorithms
-
De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61(7):627–635.
-
(2006)
Thorax
, vol.61
, Issue.7
, pp. 627-635
-
-
de Boeck, K.1
Wilschanski, M.2
Castellani, C.3
-
16
-
-
85019975490
-
The diagnosis of cystic fibrosis
-
De Boeck K, Vermeulen F, Dupont L. The diagnosis of cystic fibrosis. Presse Med. 2017; 46 (6 Pt 2): e97–e108.
-
(2017)
Presse Med
, vol.46
, Issue.6
, pp. e97-e108
-
-
de Boeck, K.1
Vermeulen, F.2
Dupont, L.3
-
17
-
-
25844491194
-
Genetic modifiers of lung disease in cystic fibrosis
-
Drumm ML, Konstan MW, Schluchter MD, et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med. 2005;353(14):1443–1453.
-
(2005)
N Engl J Med
, vol.353
, Issue.14
, pp. 1443-1453
-
-
Drumm, M.L.1
Konstan, M.W.2
Schluchter, M.D.3
-
18
-
-
84926500091
-
The innate immune function of airway epithelial cells in inflammatory lung disease
-
Hiemstra PS, McCray PB Jr., Bals R. The innate immune function of airway epithelial cells in inflammatory lung disease. Eur Respir J. 2015;45(4):1150–1162.
-
(2015)
Eur Respir J
, vol.45
, Issue.4
, pp. 1150-1162
-
-
Hiemstra, P.S.1
McCray, P.B.2
Bals, R.3
-
19
-
-
0032433707
-
Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease
-
Matsui H, Grubb BR, Tarran R, et al. Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell. 1998;95(7):1005–1015.
-
(1998)
Cell
, vol.95
, Issue.7
, pp. 1005-1015
-
-
Matsui, H.1
Grubb, B.R.2
Tarran, R.3
-
20
-
-
33644626386
-
Abnormalities in the pulmonary innate immune system in cystic fibrosis
-
Moraes TJ, Plumb J, Martin R, et al. Abnormalities in the pulmonary innate immune system in cystic fibrosis. Am J Respir Cell Mol Biol. 2006;34(3):364–374.
-
(2006)
Am J Respir Cell Mol Biol
, vol.34
, Issue.3
, pp. 364-374
-
-
Moraes, T.J.1
Plumb, J.2
Martin, R.3
-
21
-
-
34247589696
-
Computed tomography reflects lower airway inflammation and tracks changes in early cystic fibrosis
-
Davis SD, Fordham LA, Brody AS, et al. Computed tomography reflects lower airway inflammation and tracks changes in early cystic fibrosis. Am J Respir Crit Care Med. 2007;175(9):943–950.
-
(2007)
Am J Respir Crit Care Med
, vol.175
, Issue.9
, pp. 943-950
-
-
Davis, S.D.1
Fordham, L.A.2
Brody, A.S.3
-
22
-
-
84942033456
-
Causes of death in French cystic fibrosis patients: The need for improvement in transplantation referral strategies!
-
Martin C, Hamard C, Kanaan R, et al. Causes of death in French cystic fibrosis patients: the need for improvement in transplantation referral strategies! J Cyst Fibros. 2016;15(2):204–212.
-
(2016)
J Cyst Fibros
, vol.15
, Issue.2
, pp. 204-212
-
-
Martin, C.1
Hamard, C.2
Kanaan, R.3
-
23
-
-
84878000440
-
Risk factors for bronchiectasis in children with cystic fibrosis
-
Sly PD, Gangell CL, Chen L, et al. Risk factors for bronchiectasis in children with cystic fibrosis. N Engl J Med. 2013;368(21):1963–1970.
-
(2013)
N Engl J Med
, vol.368
, Issue.21
, pp. 1963-1970
-
-
Sly, P.D.1
Gangell, C.L.2
Chen, L.3
-
24
-
-
84862776813
-
Progression of early structural lung disease in young children with cystic fibrosis assessed using CT
-
Mott LS, Park J, Murray CP, et al. Progression of early structural lung disease in young children with cystic fibrosis assessed using CT. Thorax. 2012;67(6):509–516.
-
(2012)
Thorax
, vol.67
, Issue.6
, pp. 509-516
-
-
Mott, L.S.1
Park, J.2
Murray, C.P.3
-
25
-
-
67650712233
-
Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening
-
Sly PD, Brennan S, Gangell C, et al. Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening. Am J Respir Crit Care Med. 2009;180(2):146–152.
-
(2009)
Am J Respir Crit Care Med
, vol.180
, Issue.2
, pp. 146-152
-
-
Sly, P.D.1
Brennan, S.2
Gangell, C.3
-
26
-
-
70349831005
-
Bronchiectasis in infants and preschool children diagnosed with cystic fibrosis after newborn screening
-
Stick SM, Brennan S, Murray C, et al. Bronchiectasis in infants and preschool children diagnosed with cystic fibrosis after newborn screening. J Pediatr. 2009;155(5):623–8 e1.
-
(2009)
J Pediatr
, vol.155
, Issue.5
, pp. 623-628
-
-
Stick, S.M.1
Brennan, S.2
Murray, C.3
-
27
-
-
85030459952
-
Bacterial overgrowth, dysbiosis, inflammation, and dysmotility in the cystic fibrosis intestine
-
Dorsey J, Gonska T. Bacterial overgrowth, dysbiosis, inflammation, and dysmotility in the cystic fibrosis intestine. J Cyst Fibros. 2017;16 (Suppl 2):S14–S23.
-
(2017)
J Cyst Fibros
, vol.16
, pp. S14-S23
-
-
Dorsey, J.1
Gonska, T.2
-
28
-
-
84878020984
-
Cirrhosis and other liver disease in cystic fibrosis
-
Flass T, Narkewicz MR. Cirrhosis and other liver disease in cystic fibrosis. J Cyst Fibros. 2013;12(2):116–124.
-
(2013)
J Cyst Fibros
, vol.12
, Issue.2
, pp. 116-124
-
-
Flass, T.1
Narkewicz, M.R.2
-
29
-
-
80053378342
-
Liver disease in cystic fibrosis
-
Rowland M, Bourke B. Liver disease in cystic fibrosis. Curr Opin Pulm Med. 2011;17(6):461–466.
-
(2011)
Curr Opin Pulm Med
, vol.17
, Issue.6
, pp. 461-466
-
-
Rowland, M.1
Bourke, B.2
-
31
-
-
84878350788
-
Update on cystic fibrosis-related diabetes
-
Kelly A, Moran A. Update on cystic fibrosis-related diabetes. J Cyst Fibros. 2013;12(4):318–331.
-
(2013)
J Cyst Fibros
, vol.12
, Issue.4
, pp. 318-331
-
-
Kelly, A.1
Moran, A.2
-
32
-
-
81455138216
-
Risk factors for chronic kidney disease in adults with cystic fibrosis
-
Quon BS, Mayer-Hamblett N, Aitken ML, et al. Risk factors for chronic kidney disease in adults with cystic fibrosis. Am J Respir Crit Care Med. 2011;184(10):1147–1152.
-
(2011)
Am J Respir Crit Care Med
, vol.184
, Issue.10
, pp. 1147-1152
-
-
Quon, B.S.1
Mayer-Hamblett, N.2
Aitken, M.L.3
-
33
-
-
0032513942
-
Clinical outcome in relation to care in centres specialising in cystic fibrosis: Cross sectional study
-
Mahadeva R, Webb K, Westerbeek RC, et al. Clinical outcome in relation to care in centres specialising in cystic fibrosis: cross sectional study. BMJ. 1998;316(7147):1771–1775.
-
(1998)
BMJ
, vol.316
, Issue.7147
, pp. 1771-1775
-
-
Mahadeva, R.1
Webb, K.2
Westerbeek, R.C.3
-
34
-
-
30944466084
-
A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis
-
Elkins MR, Robinson M, Rose BR, et al. A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N Engl J Med. 2006;354(3):229–240.
-
(2006)
N Engl J Med
, vol.354
, Issue.3
, pp. 229-240
-
-
Elkins, M.R.1
Robinson, M.2
Rose, B.R.3
-
35
-
-
0035666058
-
A two-year randomized, placebo-controlled trial of dornase alfa in young patients with cystic fibrosis with mild lung function abnormalities
-
Quan JM, Tiddens HA, Sy JP, et al. A two-year randomized, placebo-controlled trial of dornase alfa in young patients with cystic fibrosis with mild lung function abnormalities. J Pediatr. 2001;139(6):813–820.
-
(2001)
J Pediatr
, vol.139
, Issue.6
, pp. 813-820
-
-
Quan, J.M.1
Tiddens, H.A.2
Sy, J.P.3
-
36
-
-
77957694293
-
Failure to recover to baseline pulmonary function after cystic fibrosis pulmonary exacerbation
-
Db S, Rc B, Rosenfeld M, et al. Failure to recover to baseline pulmonary function after cystic fibrosis pulmonary exacerbation. Am J Respir Crit Care Med. 2010;182(5):627–632.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, Issue.5
, pp. 627-632
-
-
Db, S.1
Rc, B.2
Rosenfeld, M.3
-
37
-
-
84907343152
-
Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: Survival analysis of the cystic fibrosis foundation patient registry
-
MacKenzie T, Gifford AH, Sabadosa KA, et al. Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: survival analysis of the cystic fibrosis foundation patient registry. Ann Intern Med. 2014;161(4):233–241.
-
(2014)
Ann Intern Med
, vol.161
, Issue.4
, pp. 233-241
-
-
Mackenzie, T.1
Gifford, A.H.2
Sabadosa, K.A.3
-
38
-
-
84869120178
-
Treatment of lung infection in patients with cystic fibrosis: Current and future strategies
-
Doring G, Flume P, Heijerman H, et al. Treatment of lung infection in patients with cystic fibrosis: current and future strategies. J Cyst Fibros. 2012;11(6):461–479.
-
(2012)
J Cyst Fibros
, vol.11
, Issue.6
, pp. 461-479
-
-
Doring, G.1
Flume, P.2
Heijerman, H.3
-
39
-
-
84958206254
-
International committee on mental health in cystic fibrosis: Cystic fibrosis foundation and European cystic fibrosis society consensus statements for screening and treating depression and anxiety
-
Quittner AL, Abbott J, Georgiopoulos AM, et al. International committee on mental health in cystic fibrosis: cystic fibrosis foundation and European cystic fibrosis society consensus statements for screening and treating depression and anxiety. Thorax. 2016;71 (1):26–34.
-
(2016)
Thorax
, vol.71
, Issue.1
, pp. 26-34
-
-
Quittner, A.L.1
Abbott, J.2
Georgiopoulos, A.M.3
-
40
-
-
84919721435
-
Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: Results of the international depression epidemiological study across nine countries
-
Quittner AL, Goldbeck L, Abbott J, et al. Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of the international depression epidemiological study across nine countries. Thorax. 2014;69(12):1090–1097.
-
(2014)
Thorax
, vol.69
, Issue.12
, pp. 1090-1097
-
-
Quittner, A.L.1
Goldbeck, L.2
Abbott, J.3
-
41
-
-
85054624432
-
-
cited 15 Dec 2017
-
Cystic Fibrosis Foundation Drug Development Pipeline 2017 [cited 15 Dec 2017]. Available from: https://www.cff.org/Trials/Pipeline.
-
(2017)
-
-
-
42
-
-
24644464284
-
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
-
Pedemonte N, Lukacs GL, Du K, et al. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest. 2005;115(9):2564–2571.
-
(2005)
J Clin Invest
, vol.115
, Issue.9
, pp. 2564-2571
-
-
Pedemonte, N.1
Lukacs, G.L.2
Du, K.3
-
43
-
-
84902335825
-
Novel opportunities for CFTR-targeting drug development using organoids
-
Dekkers JF, Van Der Ent CK, Beekman JM. Novel opportunities for CFTR-targeting drug development using organoids. Rare Dis. 2013;1:e27112.
-
(2013)
Rare Dis
, vol.1
-
-
Dekkers, J.F.1
van Der Ent, C.K.2
Beekman, J.M.3
-
44
-
-
84880292828
-
A functional CFTR assay using primary cystic fibrosis intestinal organoids
-
• A key paper describing the use of patient-derived intestinal organoids to assess CFTR function
-
Dekkers JF, Wiegerinck CL, De Jonge HR, et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat Med. 2013;19(7):939–945. • A key paper describing the use of patient-derived intestinal organoids to assess CFTR function
-
(2013)
Nat Med
, vol.19
, Issue.7
, pp. 939-945
-
-
Dekkers, J.F.1
Wiegerinck, C.L.2
de Jonge, H.R.3
-
45
-
-
84879410121
-
Mechanism-based corrector combination restores DeltaF508-CFTR folding and function
-
Okiyoneda T, Veit G, Dekkers JF, et al. Mechanism-based corrector combination restores DeltaF508-CFTR folding and function. Nat Chem Biol. 2013;9(7):444–454.
-
(2013)
Nat Chem Biol
, vol.9
, Issue.7
, pp. 444-454
-
-
Okiyoneda, T.1
Veit, G.2
Dekkers, J.F.3
-
46
-
-
84890033064
-
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(6):653–658.
-
(2013)
Cell Stem Cell
, vol.13
, Issue.6
, pp. 653-658
-
-
Schwank, G.1
Koo, B.K.2
Sasselli, V.3
-
47
-
-
84988530096
-
Individualized medicine using intestinal responses to CFTR potentiators and correctors
-
Beekman JM. Individualized medicine using intestinal responses to CFTR potentiators and correctors. Pediatr Pulmonol. 2016;51(S44): S23–S34.
-
(2016)
Pediatr Pulmonol
, vol.51
, pp. S23-S34
-
-
Beekman, J.M.1
-
48
-
-
84980016718
-
Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids
-
Dekkers JF, Gogorza Gondra RA, Kruisselbrink E, et al. Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids. Eur Respir J. 2016;48(2):451–458.
-
(2016)
Eur Respir J
, vol.48
, Issue.2
, pp. 451-458
-
-
Dekkers, J.F.1
Gogorza Gondra, R.A.2
Kruisselbrink, E.3
-
49
-
-
84924227653
-
A bioassay using intestinal organoids to measure CFTR modulators in human plasma
-
Dekkers R, Vijftigschild LA, Vonk AM, et al. A bioassay using intestinal organoids to measure CFTR modulators in human plasma. J Cyst Fibros. 2015;14(2):178–181.
-
(2015)
J Cyst Fibros
, vol.14
, Issue.2
, pp. 178-181
-
-
Dekkers, R.1
Vijftigschild, L.A.2
Vonk, A.M.3
-
50
-
-
84987924535
-
Intestinal organoids and personalized medicine in cystic fibrosis: A successful patient-oriented research collaboration
-
Noordhoek J, Gulmans V, Van Der Ent K, et al. Intestinal organoids and personalized medicine in cystic fibrosis: a successful patient-oriented research collaboration. Curr Opin Pulm Med. 2016;22 (6):610–616.
-
(2016)
Curr Opin Pulm Med
, vol.22
, Issue.6
, pp. 610-616
-
-
Noordhoek, J.1
Gulmans, V.2
van Der Ent, K.3
-
51
-
-
84938629987
-
Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids
-
Zomer-Van Ommen DD, Vijftigschild LA, Kruisselbrink E, et al. Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids. J Cyst Fibros. 2016;15(2):158–162.
-
(2016)
J Cyst Fibros
, vol.15
, Issue.2
, pp. 158-162
-
-
Zomer-Van Ommen, D.D.1
Vijftigschild, L.A.2
Kruisselbrink, E.3
-
52
-
-
29944437618
-
Long-term cultures of polarized airway epithelial cells from patients with cystic fibrosis
-
Wiszniewski L, Jornot L, Dudez T, et al. Long-term cultures of polarized airway epithelial cells from patients with cystic fibrosis. Am J Respir Cell Mol Biol. 2006;34(1):39–48.
-
(2006)
Am J Respir Cell Mol Biol
, vol.34
, Issue.1
, pp. 39-48
-
-
Wiszniewski, L.1
Jornot, L.2
Dudez, T.3
-
53
-
-
84870511266
-
Development of primary human nasal epithelial cell cultures for the study of cystic fibrosis pathophysiology
-
De Courcey F, Av Z, Atherton-Watson H, et al. Development of primary human nasal epithelial cell cultures for the study of cystic fibrosis pathophysiology. Am J Physiol Cell Physiol. 2012;303(11): C1173–9.
-
(2012)
Am J Physiol Cell Physiol
, vol.303
, Issue.11
, pp. C1173-C1179
-
-
de Courcey, F.1
Av, Z.2
Atherton-Watson, H.3
-
54
-
-
38049068170
-
Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants
-
Mosler K, Coraux C, Fragaki K, et al. Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants. J Cyst Fibros. 2008;7(1):44–53.
-
(2008)
J Cyst Fibros
, vol.7
, Issue.1
, pp. 44-53
-
-
Mosler, K.1
Coraux, C.2
Fragaki, K.3
-
55
-
-
85047975989
-
Nasospheroids permit measurements of CFTR-dependent fluid transport
-
[Epub ahead of print]. •• The latest development in ex vivo models for theratyping and personalized medicine approaches for people with CF
-
Guimbellot JS, Leach JM, Chaudhry IG, et al. Nasospheroids permit measurements of CFTR-dependent fluid transport. JCI Insight. 2017;2(22). pii: 95734. doi: 10.1172/jci.insight.95734 [Epub ahead of print]. •• The latest development in ex vivo models for theratyping and personalized medicine approaches for people with CF.
-
(2017)
JCI Insight
, vol.2
, Issue.22
-
-
Guimbellot, J.S.1
Leach, J.M.2
Chaudhry, I.G.3
-
56
-
-
33747195353
-
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
-
Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126(4):663–676.
-
(2006)
Cell
, vol.126
, Issue.4
, pp. 663-676
-
-
Takahashi, K.1
Yamanaka, S.2
-
57
-
-
68549107942
-
Generation and characterization of human induced pluripotent stem cells
-
Chapter 4:Unit 4A 2
-
Ohnuki M, Takahashi K, Yamanaka S. Generation and characterization of human induced pluripotent stem cells. Curr Protoc Stem Cell Biol. 2009;Chapter 4:Unit 4A 2.
-
(2009)
Curr Protoc Stem Cell Biol
-
-
Ohnuki, M.1
Takahashi, K.2
Yamanaka, S.3
-
58
-
-
55749089875
-
Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes
-
Aasen T, Raya A, Barrero MJ, et al. Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes. Nat Biotechnol. 2008;26(11):1276–1284.
-
(2008)
Nat Biotechnol
, vol.26
, Issue.11
, pp. 1276-1284
-
-
Aasen, T.1
Raya, A.2
Barrero, M.J.3
-
59
-
-
70349452213
-
Generation of induced pluripotent stem cells from human cord blood
-
Haase A, Olmer R, Schwanke K, et al. Generation of induced pluripotent stem cells from human cord blood. Cell Stem Cell. 2009;5 (4):434–441.
-
(2009)
Cell Stem Cell
, vol.5
, Issue.4
, pp. 434-441
-
-
Haase, A.1
Olmer, R.2
Schwanke, K.3
-
60
-
-
84892666915
-
Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis
-
Lachmann N, Happle C, Ackermann M, et al. Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis. Am J Respir Crit Care Med. 2014;189(2):167–182.
-
(2014)
Am J Respir Crit Care Med
, vol.189
, Issue.2
, pp. 167-182
-
-
Lachmann, N.1
Happle, C.2
Ackermann, M.3
-
61
-
-
84875428152
-
Gene mutation in microRNA target sites of CFTR gene: A novel pathogenetic mechanism in cystic fibrosis?
-
Amato F, Seia M, Giordano S, et al. Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS One. 2013;8(3):e60448.
-
(2013)
Plos One
, vol.8
, Issue.3
-
-
Amato, F.1
Seia, M.2
Giordano, S.3
-
62
-
-
84886530607
-
Post-transcriptional regulation of cystic fibrosis transmembrane conductance regulator expression and function by microRNAs
-
Ramachandran S, Karp PH, Osterhaus SR, et al. Post-transcriptional regulation of cystic fibrosis transmembrane conductance regulator expression and function by microRNAs. Am J Respir Cell Mol Biol. 2013;49(4):544–551.
-
(2013)
Am J Respir Cell Mol Biol
, vol.49
, Issue.4
, pp. 544-551
-
-
Ramachandran, S.1
Karp, P.H.2
Osterhaus, S.R.3
-
63
-
-
84900009626
-
Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression
-
Amato F, Tomaiuolo R, Nici F, et al. Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression. Biomed Res Int. 2014;2014:610718.
-
(2014)
Biomed Res Int
, vol.2014
-
-
Amato, F.1
Tomaiuolo, R.2
Nici, F.3
-
64
-
-
84923308787
-
Bronchoalveolar sublineage specification of pluripotent stem cells: Effect of dexamethasone plus cAMP-elevating agents and keratinocyte growth factor
-
Katsirntaki K, Mauritz C, Olmer R, et al. Bronchoalveolar sublineage specification of pluripotent stem cells: effect of dexamethasone plus cAMP-elevating agents and keratinocyte growth factor. Tissue Eng Part A. 2015; 21 (3–4): 669–682.
-
(2015)
Tissue Eng Part A
, vol.21
, Issue.3-4
, pp. 669-682
-
-
Katsirntaki, K.1
Mauritz, C.2
Olmer, R.3
-
65
-
-
84892149549
-
Efficient generation of lung and airway epithelial cells from human pluripotent stem cells
-
Huang SX, Islam MN, O’Neill J, et al. Efficient generation of lung and airway epithelial cells from human pluripotent stem cells. Nat Biotechnol. 2014;32(1):84–91.
-
(2014)
Nat Biotechnol
, vol.32
, Issue.1
, pp. 84-91
-
-
Huang, S.X.1
Islam, M.N.2
O’Neill, J.3
-
66
-
-
84874700441
-
Keratinocyte growth factor and dexamethasone plus elevated cAMP levels synergistically support pluripotent stem cell differentiation into alveolar epithelial type II cells
-
Schmeckebier S, Mauritz C, Katsirntaki K, et al. Keratinocyte growth factor and dexamethasone plus elevated cAMP levels synergistically support pluripotent stem cell differentiation into alveolar epithelial type II cells. Tissue Eng Part A. 2013; 19 (7–8): 938–951.
-
(2013)
Tissue Eng Part A
, vol.19
, Issue.7-8
, pp. 938-951
-
-
Schmeckebier, S.1
Mauritz, C.2
Katsirntaki, K.3
-
67
-
-
84866067664
-
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 (9):876–882.
-
(2012)
Nat Biotechnol
, vol.30
, Issue.9
, pp. 876-882
-
-
Wong, A.P.1
Bear, C.E.2
Chin, S.3
-
68
-
-
84933677842
-
Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells
-
Crane AM, Kramer P, Bui JH, et al. Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells. Stem Cell Reports. 2015;4(4):569–577.
-
(2015)
Stem Cell Reports
, vol.4
, Issue.4
, pp. 569-577
-
-
Crane, A.M.1
Kramer, P.2
Bui, J.H.3
-
69
-
-
84875048537
-
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(11):4404–4409.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.11
, pp. 4404-4409
-
-
Jih, K.Y.1
Hwang, T.C.2
-
70
-
-
84943328860
-
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 (7):836–842.
-
(2015)
Am J Respir Crit Care Med
, vol.192
, Issue.7
, pp. 836-842
-
-
Sawicki, G.S.1
McKone, E.F.2
Pasta, D.J.3
-
71
-
-
84878970875
-
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. 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 (11):1219–1225.
-
(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
-
72
-
-
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 EF, Borowitz D, Drevinek P, 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. 2014;2(11):902–910.
-
(2014)
Lancet Respir Med
, vol.2
, Issue.11
, pp. 902-910
-
-
McKone, E.F.1
Borowitz, D.2
Drevinek, P.3
-
73
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
•• Seminal paper reporting the results from the first clinical trial of Ivacaftor in CF patients with at least one G551D allele
-
Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365(18):1663–1672. •• Seminal paper reporting the results from the first clinical trial of Ivacaftor in CF patients with at least one G551D allele.
-
(2011)
N Engl J Med
, vol.365
, Issue.18
, pp. 1663-1672
-
-
Ramsey, B.W.1
Davies, J.2
McElvaney, N.G.3
-
74
-
-
84911493956
-
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(6):674–680.
-
(2014)
J Cyst Fibros
, vol.13
, Issue.6
, pp. 674-680
-
-
de Boeck, K.1
Munck, A.2
Walker, S.3
-
75
-
-
84958107856
-
Safety, pharmaco-kinetics, 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. Safety, pharmaco-kinetics, 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;4(2):107–115.
-
(2016)
Lancet Respir Med
, vol.4
, Issue.2
, pp. 107-115
-
-
Davies, J.C.1
Cunningham, S.2
Harris, W.T.3
-
76
-
-
84865853894
-
Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
-
Flume PA, Liou TG, Borowitz DS, et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 2012;142(3):718–724.
-
(2012)
Chest
, vol.142
, Issue.3
, pp. 718-724
-
-
Flume, P.A.1
Liou, T.G.2
Borowitz, D.S.3
-
77
-
-
85033709262
-
Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation
-
pii: S1569-1993 (17)30912-8, [Epub ahead of proint]
-
Wagener JS, Millar SJ, Mayer-Hamblett N, et al. Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation. J Cyst Fibros. 2017; pii: S1569-1993 (17)30912-8. doi: 10.1016/j.jcf.2017.10.003. [Epub ahead of proint].
-
(2017)
J Cyst Fibros
-
-
Wagener, J.S.1
Millar, S.J.2
Mayer-Hamblett, N.3
-
78
-
-
85034732149
-
Tezacaftor-ivacaftor in residual-function heterozygotes with cystic fibrosis
-
• Example of a combination therapy approach using one of the newest CFTR correctors in patients with cystic fibrosis heterozygous for Phe508del and a CFTR residual-function mutation
-
Rowe SM, Daines C, Ringshausen FC, et al. Tezacaftor-ivacaftor in residual-function heterozygotes with cystic fibrosis. N Engl J Med. 2017;377(21):2024–2035. • Example of a combination therapy approach using one of the newest CFTR correctors in patients with cystic fibrosis heterozygous for Phe508del and a CFTR residual-function mutation.
-
(2017)
N Engl J Med
, vol.377
, Issue.21
, pp. 2024-2035
-
-
Rowe, S.M.1
Daines, C.2
Ringshausen, F.C.3
-
79
-
-
84994726301
-
Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: A pooled analysis
-
Elborn JS, Ramsey BW, Boyle MP, et al. Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: a pooled analysis. Lancet Respir Med. 2016;4(8):617–626.
-
(2016)
Lancet Respir Med
, vol.4
, Issue.8
, pp. 617-626
-
-
Elborn, J.S.1
Ramsey, B.W.2
Boyle, M.P.3
-
80
-
-
85017338127
-
Lumacaftor/ivacaftor in patients aged 6–11 years with cystic fibrosis and homozygous for F508del-CFTR
-
An evaluation of the safety, tolerability, pharmacodynamics, and efficacy of lumacaftor/ivacaftor combination in children aged 6–11 years with cystic fibrosis with two Phe508del alleles
-
Milla CE, Ratjen F, Marigowda G, et al. Lumacaftor/ivacaftor in patients aged 6–11 years with cystic fibrosis and homozygous for F508del-CFTR. Am J Respir Crit Care Med. 2017;195(7):912– 920. • An evaluation of the safety, tolerability, pharmacodynamics, and efficacy of lumacaftor/ivacaftor combination in children aged 6–11 years with cystic fibrosis with two Phe508del alleles.
-
(2017)
Am J Respir Crit Care Med
, vol.195
, Issue.7
, pp. 912-920
-
-
Milla, C.E.1
Ratjen, F.2
Marigowda, G.3
-
81
-
-
85020383955
-
Efficacy and safety of lumacaftor and ivacaftor in patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR: A randomised, placebo-controlled phase 3 trial
-
Ratjen F, Hug C, Marigowda G, et al. Efficacy and safety of lumacaftor and ivacaftor in patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial. Lancet Respir Med. 2017;5(7):557–567.
-
(2017)
Lancet Respir Med
, vol.5
, Issue.7
, pp. 557-567
-
-
Ratjen, F.1
Hug, C.2
Marigowda, G.3
-
82
-
-
85034765653
-
Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del
-
Taylor-Cousar JL, Munck A, McKone EF, et al. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N Engl J Med. 2017;377(21):2013–2023.
-
(2017)
N Engl J Med
, vol.377
, Issue.21
, pp. 2013-2023
-
-
Taylor-Cousar, J.L.1
Munck, A.2
McKone, E.F.3
-
83
-
-
5444264363
-
Gene therapy for cystic fibrosis: An example for lung gene therapy
-
Griesenbach U, Geddes DM, Alton EW. Gene therapy for cystic fibrosis: an example for lung gene therapy. Gene Ther. 2004;11 Suppl 1:S43–50.
-
(2004)
Gene Ther
, vol.11
, pp. S43-S50
-
-
Griesenbach, U.1
Geddes, D.M.2
Alton, E.W.3
-
84
-
-
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, Armstrong DK, Ashby D, 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. 2015;3(9):684–691.
-
(2015)
Lancet Respir Med
, vol.3
, Issue.9
, pp. 684-691
-
-
Alton, E.1
Armstrong, D.K.2
Ashby, D.3
-
85
-
-
84873734105
-
RNA-guided human genome engineering via Cas9
-
Mali P, Yang L, Esvelt KM, et al. RNA-guided human genome engineering via Cas9. Science. 2013;339(6121):823–826.
-
(2013)
Science
, vol.339
, Issue.6121
, pp. 823-826
-
-
Mali, P.1
Yang, L.2
Esvelt, K.M.3
-
86
-
-
84873729095
-
Multiplex genome engineering using CRISPR/Cas systems
-
Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems. Science. 2013;339(6121):819–823.
-
(2013)
Science
, vol.339
, Issue.6121
, pp. 819-823
-
-
Cong, L.1
Ran, F.A.2
Cox, D.3
-
87
-
-
84940793000
-
Functional gene correction for cystic fibrosis in lung epithelial cells generated from patient iPSCs
-
Firth AL, Menon T, Parker GS, et al. Functional gene correction for cystic fibrosis in lung epithelial cells generated from patient iPSCs. Cell Rep. 2015;12(9):1385–1390.
-
(2015)
Cell Rep
, vol.12
, Issue.9
, pp. 1385-1390
-
-
Firth, A.L.1
Menon, T.2
Parker, G.S.3
-
88
-
-
77949890696
-
MiR-126 is downregulated in cystic fibrosis airway epithelial cells and regulates TOM1 expression
-
Oglesby IK, Bray IM, Chotirmall SH, et al. miR-126 is downregulated in cystic fibrosis airway epithelial cells and regulates TOM1 expression. J Immunol. 2010;184(4):1702–1709.
-
(2010)
J Immunol
, vol.184
, Issue.4
, pp. 1702-1709
-
-
Oglesby, I.K.1
Bray, I.M.2
Chotirmall, S.H.3
-
89
-
-
84875440693
-
Regulation of cystic fibrosis transmembrane conductance regulator by microRNA-145, −223, and −494 is altered in DeltaF508 cystic fibrosis airway epithelium
-
Oglesby IK, Chotirmall SH, McElvaney NG, et al. Regulation of cystic fibrosis transmembrane conductance regulator by microRNA-145, −223, and −494 is altered in DeltaF508 cystic fibrosis airway epithelium. J Immunol. 2013;190(7):3354–3362.
-
(2013)
J Immunol
, vol.190
, Issue.7
, pp. 3354-3362
-
-
Oglesby, I.K.1
Chotirmall, S.H.2
McElvaney, N.G.3
-
90
-
-
79960807167
-
MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene
-
Gillen AE, Gosalia N, Leir SH, et al. MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene. Biochem J. 2011;438(1):25–32.
-
(2011)
Biochem J
, vol.438
, Issue.1
, pp. 25-32
-
-
Gillen, A.E.1
Gosalia, N.2
Leir, S.H.3
-
91
-
-
80054777791
-
Synergistic post-transcriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by miR-101 and miR-494 specific binding
-
Megiorni F, Cialfi S, Dominici C, et al. Synergistic post-transcriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by miR-101 and miR-494 specific binding. PLoS One. 2011;6(10):e26601.
-
(2011)
Plos One
, vol.6
, Issue.10
-
-
Megiorni, F.1
Cialfi, S.2
Dominici, C.3
-
92
-
-
84870685948
-
MiR-101 and miR-144 regulate the expression of the CFTR chloride channel in the lung
-
Hassan F, Nuovo GJ, Crawford M, et al. MiR-101 and miR-144 regulate the expression of the CFTR chloride channel in the lung. PLoS One. 2012;7(11):e50837.
-
(2012)
Plos One
, vol.7
, Issue.11
-
-
Hassan, F.1
Nuovo, G.J.2
Crawford, M.3
-
93
-
-
84920610349
-
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis
-
Viart V, Bergougnoux A, Bonini J, et al. Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis. Eur Respir J. 2015;45(1):116–128.
-
(2015)
Eur Respir J
, vol.45
, Issue.1
, pp. 116-128
-
-
Viart, V.1
Bergougnoux, A.2
Bonini, J.3
-
94
-
-
84885575144
-
Cigarette smoke and CFTR: Implications in the pathogenesis of COPD
-
Rab A, Rowe SM, Raju SV, et al. Cigarette smoke and CFTR: implications in the pathogenesis of COPD. Am J Physiol Lung Cell Mol Physiol. 2013;305(8):L530–41.
-
(2013)
Am J Physiol Lung Cell Mol Physiol
, vol.305
, Issue.8
, pp. L530-L541
-
-
Rab, A.1
Rowe, S.M.2
Raju, S.V.3
-
95
-
-
84989233349
-
Cystic fibrosis transmembrane conductance regulator. Implications in cystic fibrosis and chronic obstructive pulmonary disease
-
Cantin AM. Cystic fibrosis transmembrane conductance regulator. Implications in cystic fibrosis and chronic obstructive pulmonary disease. Ann Am Thorac Soc. 2016;13 Suppl 2:S150–5.
-
(2016)
Ann am Thorac Soc
, vol.13
, pp. S150-S155
-
-
Cantin, A.M.1
-
96
-
-
84866627429
-
CFTR regulates early pathogenesis of chronic obstructive lung disease in betaENaC-overexpressing mice
-
Johannesson B, Hirtz S, Schatterny J, et al. CFTR regulates early pathogenesis of chronic obstructive lung disease in betaENaC-overexpressing mice. PLoS One. 2012;7(8):e44059.
-
(2012)
Plos One
, vol.7
, Issue.8
-
-
Johannesson, B.1
Hirtz, S.2
Schatterny, J.3
|