-
1
-
-
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 1989, 245:1066-1073.
-
(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
-
2
-
-
25844451159
-
Modifier genetics: cystic fibrosis
-
Cutting G.R. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet 2005, 6:237-260.
-
(2005)
Annu Rev Genomics Hum Genet
, vol.6
, pp. 237-260
-
-
Cutting, G.R.1
-
3
-
-
65749102092
-
- channel by ATP-driven nucleotide-binding domain dimerisation
-
- channel by ATP-driven nucleotide-binding domain dimerisation. J Physiol 2009, 587:2151-2161.
-
(2009)
J Physiol
, vol.587
, pp. 2151-2161
-
-
Hwang, T.-C.1
Sheppard, D.N.2
-
4
-
-
33947725805
-
G551D and G1349D, two CF-associated mutations in the signature sequence of CFTR, exhibit distinct gating defects
-
Bompadre S.G., Sohma Y., Li M., Hwang T.-C. G551D and G1349D, two CF-associated mutations in the signature sequence of CFTR, exhibit distinct gating defects. J Gen Physiol 2007, 129(4):285-298.
-
(2007)
J Gen Physiol
, vol.129
, Issue.4
, pp. 285-298
-
-
Bompadre, S.G.1
Sohma, Y.2
Li, M.3
Hwang, T.-C.4
-
5
-
-
0029616734
-
Cystic fibrosis: genotypic and phenotypic variations
-
Zielenski J., Tsui L.C. 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
-
6
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng S.H., Gregory R.J., Marshall J., Paul S., Souza D.W., White G.A., et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990, 65:827-834.
-
(1990)
Cell
, vol.65
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
White, G.A.6
-
7
-
-
0026781952
-
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
-
Denning G.M., Anderson M.P., Amara J.F., Marshall J., Smith A.E., Welsh M.J. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992, 358:761-764.
-
(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
-
8
-
-
0026325533
-
Altered chloride ion channel kinetics associated with the deltaF508 cystic fibrosis mutation
-
Dalemans W., Barbry P., Champigny G., Jallat S., Dott K., Dreyer D., et al. Altered chloride ion channel kinetics associated with the deltaF508 cystic fibrosis mutation. Nature 1991, 354:526-528.
-
(1991)
Nature
, vol.354
, pp. 526-528
-
-
Dalemans, W.1
Barbry, P.2
Champigny, G.3
Jallat, S.4
Dott, K.5
Dreyer, D.6
-
9
-
-
0029899053
-
DeltaF508-CFTR channels: kinetics, activation by forskolin, and potentiation by xanthines
-
Haws C.M., Neponucemo I.B., Krouse M.E., Wakelee H., Law T., Xia Y., et al. DeltaF508-CFTR channels: kinetics, activation by forskolin, and potentiation by xanthines. Am J Physiol 1996, 270:C1544-C1555.
-
(1996)
Am J Physiol
, vol.270
, pp. C1544-C1555
-
-
Haws, C.M.1
Neponucemo, I.B.2
Krouse, M.E.3
Wakelee, H.4
Law, T.5
Xia, Y.6
-
10
-
-
77953796491
-
Potentiation of disease-associated CFTR mutants by hydrolyzable ATP analogs
-
Miki H., Zhou Z., Li M., Hwang T.-C., Bompadre S.G. Potentiation of disease-associated CFTR mutants by hydrolyzable ATP analogs. J Biol Chem 2010, 285(26):19967-19975.
-
(2010)
J Biol Chem
, vol.285
, Issue.26
, pp. 19967-19975
-
-
Miki, H.1
Zhou, Z.2
Li, M.3
Hwang, T.-C.4
Bompadre, S.G.5
-
11
-
-
0027380236
-
The deltaF508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane
-
Lukacs G.L., Chang X.-B., Bear C.E., Kartner N., Mohamed A., Riordan J.R., et al. The deltaF508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. J Biol Chem 1993, 268(29):21592-21598.
-
(1993)
J Biol Chem
, vol.268
, Issue.29
, pp. 21592-21598
-
-
Lukacs, G.L.1
Chang, X.-B.2
Bear, C.E.3
Kartner, N.4
Mohamed, A.5
Riordan, J.R.6
-
12
-
-
27744482654
-
The short apical membrane half-life of rescued δF508-CFTR in polarized human airway epithelial cells
-
Swiatecka-Urban A., Brown A., Moreau-Marquis S., Renuka J., Coutermarsh B., Barnaby R., et al. The short apical membrane half-life of rescued δF508-CFTR in polarized human airway epithelial cells. J Biol Chem 2005, 280:36762-36772.
-
(2005)
J Biol Chem
, vol.280
, pp. 36762-36772
-
-
Swiatecka-Urban, A.1
Brown, A.2
Moreau-Marquis, S.3
Renuka, J.4
Coutermarsh, B.5
Barnaby, R.6
-
13
-
-
79957820118
-
The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR
-
Jih K.-Y., Li M., Hwang T.-C., Bompadre S.G. The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR. J Physiol 2011, 589:2719-2731.
-
(2011)
J Physiol
, vol.589
, pp. 2719-2731
-
-
Jih, K.-Y.1
Li, M.2
Hwang, T.-C.3
Bompadre, S.G.4
-
14
-
-
73249114731
-
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
-
Van Goor F., Hadida S., Grootenhuis P., Burton B., Cao D., Neuberger T., et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. PNAS 2009, 106(44):18825-18830.
-
(2009)
PNAS
, vol.106
, Issue.44
, pp. 18825-18830
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.3
Burton, B.4
Cao, D.5
Neuberger, T.6
-
15
-
-
80455162465
-
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
-
Ramsey B.W., Davies J., McElvaney N.G., Tullis E.B.S., Dřevínek P., Griese M., et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011, 365:1663-1672.
-
(2011)
N Engl J Med
, vol.365
, pp. 1663-1672
-
-
Ramsey, B.W.1
Davies, J.2
McElvaney, N.G.3
Tullis, E.B.S.4
Dřevínek, P.5
Griese, M.6
-
16
-
-
84868243529
-
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator VX-770 (Ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner
-
Eckford P.D.W., Li C., Ramjeesingh M., Bear C.E. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator VX-770 (Ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner. J Biol Chem 2012, 287:36639-36649.
-
(2012)
J Biol Chem
, vol.287
, pp. 36639-36649
-
-
Eckford, P.D.W.1
Li, C.2
Ramjeesingh, M.3
Bear, C.E.4
-
17
-
-
84875048537
-
VX-770 potentiates CFTR function by promoting decoupling between the gating cycle and the ATP hydrolysis cycle
-
Jih K.-Y., Hwang T.-C. VX-770 potentiates CFTR function by promoting decoupling between the gating cycle and the ATP hydrolysis cycle. PNAS 2013, 110:4404-4409.
-
(2013)
PNAS
, vol.110
, pp. 4404-4409
-
-
Jih, K.-Y.1
Hwang, T.-C.2
-
18
-
-
84862776940
-
Ivacaftor potentiation of multiple CFTR channels with gating mutations
-
Yu H., Burton B., Huang C.C., Worley J., Cao D., Johnson J.P., et al. Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros 2012, 11:237-245.
-
(2012)
J Cyst Fibros
, vol.11
, pp. 237-245
-
-
Yu, H.1
Burton, B.2
Huang, C.C.3
Worley, J.4
Cao, D.5
Johnson, J.P.6
-
19
-
-
84890435909
-
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function
-
Van Goor F., Yu H., Burton B., Hoffman B.J. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros 2014, 1:29-36.
-
(2014)
J Cyst Fibros
, vol.1
, pp. 29-36
-
-
Van Goor, F.1
Yu, H.2
Burton, B.3
Hoffman, B.J.4
-
20
-
-
81755163563
-
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
-
Van Goor F., Hadida S., Grootenhuis P., Burton B., Stack J.H., Straley S., et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. PNAS 2011, 108:18843-18848.
-
(2011)
PNAS
, vol.108
, pp. 18843-18848
-
-
Van Goor, F.1
Hadida, S.2
Grootenhuis, P.3
Burton, B.4
Stack, J.H.5
Straley, S.6
-
21
-
-
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., Accurso F., Aitken M., Amin R., Ashlock M., 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, 67:12-18.
-
(2012)
Thorax
, vol.67
, pp. 12-18
-
-
Clancy, J.P.1
Rowe, S.2
Accurso, F.3
Aitken, M.4
Amin, R.5
Ashlock, M.6
-
23
-
-
84873436500
-
Correctors of DF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein
-
He L., Kota P., Aleksandrov A.A., Cui L., Jensen T., Dokholyan N.V., et al. Correctors of DF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein. FASEB J 2013, 27:536-545.
-
(2013)
FASEB J
, vol.27
, pp. 536-545
-
-
He, L.1
Kota, P.2
Aleksandrov, A.A.3
Cui, L.4
Jensen, T.5
Dokholyan, N.V.6
-
24
-
-
0033759953
-
The non-hydrolytic pathway of cystic fibrosis transmembrane conductance regulator ion channel gating
-
Aleksandrov A.A., Chang X.-B., Aleksandrov L., Riordan J.R. The non-hydrolytic pathway of cystic fibrosis transmembrane conductance regulator ion channel gating. J Physiol 2000, 528(2):259-265.
-
(2000)
J Physiol
, vol.528
, Issue.2
, pp. 259-265
-
-
Aleksandrov, A.A.1
Chang, X.-B.2
Aleksandrov, L.3
Riordan, J.R.4
-
25
-
-
33749039521
-
The two ATP binding sites of the cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics
-
Zhou Z., Wang X., Liu H.-Y., Zou X., Li M., Hwang T.-C. The two ATP binding sites of the cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics. J Gen Physiol 2006, 128(4):413-422.
-
(2006)
J Gen Physiol
, vol.128
, Issue.4
, pp. 413-422
-
-
Zhou, Z.1
Wang, X.2
Liu, H.-Y.3
Zou, X.4
Li, M.5
Hwang, T.-C.6
-
26
-
-
77951706563
-
Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel
-
Tsai M.-F., Li M., Hwang T.-C. Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel. J Gen Physiol 2010, 135(5):399-414.
-
(2010)
J Gen Physiol
, vol.135
, Issue.5
, pp. 399-414
-
-
Tsai, M.-F.1
Li, M.2
Hwang, T.-C.3
-
27
-
-
84870795585
-
Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation
-
Jih K.-Y., Sohma Y., Hwang T.-C. Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation. J Gen Physiol 2012, 140:347-359.
-
(2012)
J Gen Physiol
, vol.140
, pp. 347-359
-
-
Jih, K.-Y.1
Sohma, Y.2
Hwang, T.-C.3
-
28
-
-
78549242002
-
Optimization of the degenerated interfacial ATP binding site improves the function of diseases related mutant cystic fibrosis conductance transmembrane regulator (CFTR) channels
-
Tsai M.-F., Jih K.-Y., Shimizu H., Li M., Hwang T.-C. Optimization of the degenerated interfacial ATP binding site improves the function of diseases related mutant cystic fibrosis conductance transmembrane regulator (CFTR) channels. J Biol Chem 2010, 285:37663-37671.
-
(2010)
J Biol Chem
, vol.285
, pp. 37663-37671
-
-
Tsai, M.-F.1
Jih, K.-Y.2
Shimizu, H.3
Li, M.4
Hwang, T.-C.5
-
29
-
-
0025337617
-
A cystic fibrosis pancreatic adenocarcinoma cell line
-
Schoumacher R.A., Ram J., Iannuzzi M.C., Bradbury N.A., Wallace R.W., Tom Hon C., et al. A cystic fibrosis pancreatic adenocarcinoma cell line. Proc Natl Acad Sci U S A 1990, 87:4012-4016.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 4012-4016
-
-
Schoumacher, R.A.1
Ram, J.2
Iannuzzi, M.C.3
Bradbury, N.A.4
Wallace, R.W.5
Tom Hon, C.6
-
30
-
-
0026647515
-
CAMP-activated Cl channels in CFTR-transfected cystic fibrosis pancreatic epithelial cells
-
Cliff W.H., Schoumacher R.A., Frizzell R.A. cAMP-activated Cl channels in CFTR-transfected cystic fibrosis pancreatic epithelial cells. Am J Physiol 1992, 262:C1154-C1160.
-
(1992)
Am J Physiol
, vol.262
, pp. C1154-C1160
-
-
Cliff, W.H.1
Schoumacher, R.A.2
Frizzell, R.A.3
|