-
1
-
-
0032489513
-
Direct activation of cystic fibrosis transmembrane conductance regulator channels by 8-cyclopentyl-1,3-dipropylxanthine (CPX) and 1,3-diallyl-8-cyclohexykanthine (DAX)
-
Arispe, N., J. Ma, K. A. Jacobson, and H. B. Pollard. Direct activation of cystic fibrosis transmembrane conductance regulator channels by 8-cyclopentyl-1,3-dipropylxanthine (CPX) and 1,3-diallyl-8-cyclohexykanthine (DAX). J. Biol. Chem. 273: 5727-5734, 1998.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 5727-5734
-
-
Arispe, N.1
Ma, J.2
Jacobson, K.A.3
Pollard, H.B.4
-
2
-
-
0030154620
-
Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein
-
Brown, C. R., L. Q. Hong-Brown, J. Biwersi, A. S. Verkman, and W. J. Welch. Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1: 117-125, 1996.
-
(1996)
Cell Stress Chaperones
, vol.1
, pp. 117-125
-
-
Brown, C.R.1
Hong-Brown, L.Q.2
Biwersi, J.3
Verkman, A.S.4
Welch, W.J.5
-
3
-
-
0028783918
-
The Irish cystic fibrosis database
-
Cashman, S. M., A. Patino, M. G. Delgado, L. Byrne, B. Denham, and M. De Arce. The Irish cystic fibrosis database. J. Med. Genet. 32: 972-975, 1995.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 972-975
-
-
Cashman, S.M.1
Patino, A.2
Delgado, M.G.3
Byrne, L.4
Denham, B.5
De Arce, M.6
-
4
-
-
0031990988
-
Structural basis for specificity and potency of xanthine derivatives as activators of the CFTR chloride channel
-
Chappe, V., Y. Mettey, J. M. Vierfond, J. W. Hanrahan, M. Gola, B. Verrier, and F. Becq. Structural basis for specificity and potency of xanthine derivatives as activators of the CFTR chloride channel. Br. J. Pharmacol. 123: 683-693, 1998.
-
(1998)
Br. J. Pharmacol.
, vol.123
, pp. 683-693
-
-
Chappe, V.1
Mettey, Y.2
Vierfond, J.M.3
Hanrahan, J.W.4
Gola, M.5
Verrier, B.6
Becq, F.7
-
5
-
-
0029813969
-
A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction
-
Dorin, J. R., R. Farley, S. Webb, S. N. Smith, E. Farini, S. J. Delaney, B. J. Wainwright, E. W. Alton, and D. J. Porteous. A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction. Gene Ther. 3: 797-801, 1996.
-
(1996)
Gene Ther.
, vol.3
, pp. 797-801
-
-
Dorin, J.R.1
Farley, R.2
Webb, S.3
Smith, S.N.4
Farini, E.5
Delaney, S.J.6
Wainwright, B.J.7
Alton, E.W.8
Porteous, D.J.9
-
6
-
-
0025094612
-
Correction of the cystic fibrosis defectin vitro by retrovirus-mediated gene transfer
-
Drumm, M. L., H. A. Pope, W. H. Cliff, J. A. Rommens, S. A. Marvin, L.-C. Tsui, F. A. Collins, R. A. Frizzell, and J. A. Wilson. Correction of the cystic fibrosis defectin vitro by retrovirus-mediated gene transfer. Cell 62: 1227-1233, 1990.
-
(1990)
Cell
, vol.62
, pp. 1227-1233
-
-
Drumm, M.L.1
Pope, H.A.2
Cliff, W.H.3
Rommens, J.A.4
Marvin, S.A.5
Tsui, L.-C.6
Collins, F.A.7
Frizzell, R.A.8
Wilson, J.A.9
-
7
-
-
0028016412
-
CFTR displays voltage dependence and two gating modes during stimulation
-
Fischer, H., and T. E. Machen. CFTR displays voltage dependence and two gating modes during stimulation. J. Gen. Physiol. 104: 541-566, 1994.
-
(1994)
J. Gen. Physiol.
, vol.104
, pp. 541-566
-
-
Fischer, H.1
Machen, T.E.2
-
8
-
-
0029658263
-
The tyrosine kinase p60c-src regulates the fast gate of the cystic fibrosis transmembrane conductance regulator chloride channel
-
Fischer, H., and T. E. Machen. The tyrosine kinase p60c-src regulates the fast gate of the cystic fibrosis transmembrane conductance regulator chloride channel. Biophys. J. 71: 3073-3082, 1996.
-
(1996)
Biophys. J.
, vol.71
, pp. 3073-3082
-
-
Fischer, H.1
Machen, T.E.2
-
9
-
-
0028697406
-
Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations
-
Gimbovskaia, S. D., V. N. Kalinin, T. E. Ivashchenko, and V. S. Baranov. Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations. Genetika 30: 1616-1620, 1994.
-
(1994)
Genetika
, vol.30
, pp. 1616-1620
-
-
Gimbovskaia, S.D.1
Kalinin, V.N.2
Ivashchenko, T.E.3
Baranov, V.S.4
-
10
-
-
0026484050
-
Adenovirus-based expression vectors and recombinant vaccines
-
Graham, F. L., and L. Prevec. Adenovirus-based expression vectors and recombinant vaccines. Biotechnology 20: 363-390, 1992.
-
(1992)
Biotechnology
, vol.20
, pp. 363-390
-
-
Graham, F.L.1
Prevec, L.2
-
11
-
-
0029083274
-
Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene
-
Greil, I., K. Wagner, E. Eber, M. Zach, and W. Rosenkranz. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene. Wien Klin. Wochenschr. 107: 464-469, 1995.
-
(1995)
Wien Klin. Wochenschr.
, vol.107
, pp. 464-469
-
-
Greil, I.1
Wagner, K.2
Eber, E.3
Zach, M.4
Rosenkranz, W.5
-
12
-
-
0026725724
-
Cystic fibrosis patients bearing both the common missense mutation Gly - Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
-
Hamosh, A., T. M. King, B. J. Rosenstein, M. Corey, H. Levison, P. Durie, L. C. Tsui, I. McIntosh, M. Keston, D. J. Brock, et al. Cystic fibrosis patients bearing both the common missense mutation Gly - Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus. Am. J. Hum. Genet. 51: 245-250, 1992.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 245-250
-
-
Hamosh, A.1
King, T.M.2
Rosenstein, B.J.3
Corey, M.4
Levison, H.5
Durie, P.6
Tsui, L.C.7
McIntosh, I.8
Keston, M.9
Brock, D.J.10
-
13
-
-
16944365648
-
Identification of a splice site mutation (2789+5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis
-
Highsmith, W. E., Jr., L. H. Burch, Z. Zhou, J. C. Olsen, T. V. Strong, T. Smith, K. J. Friedman, L. M. Silverman, R. C. Boucher, F. S. Collins, and M. R. Knowles. Identification of a splice site mutation (2789+5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum. Mutat. 9: 332-338, 1997.
-
(1997)
Hum. Mutat.
, vol.9
, pp. 332-338
-
-
Highsmith Jr., W.E.1
Burch, L.H.2
Zhou, Z.3
Olsen, J.C.4
Strong, T.V.5
Smith, T.6
Friedman, K.J.7
Silverman, L.M.8
Boucher, R.C.9
Collins, F.S.10
Knowles, M.R.11
-
14
-
-
0029994529
-
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
-
Howard, M., R. A. Frizzell, and D. M. Bedwell. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat. Med. 2: 467-469, 1996.
-
(1996)
Nat. Med.
, vol.2
, pp. 467-469
-
-
Howard, M.1
Frizzell, R.A.2
Bedwell, D.M.3
-
15
-
-
0031763141
-
Flavonoids stimulate Cl conductance of human airway epithelium in vitro and in vivo
-
Lung Cell. Mol. Physiol. 19
-
Illek, B., and H. Fischer. Flavonoids stimulate Cl conductance of human airway epithelium in vitro and in vivo. Am. J. Physiol. 275 (Lung Cell. Mol. Physiol. 19): L902-L910, 1998.
-
(1998)
Am. J. Physiol.
, vol.275
-
-
Illek, B.1
Fischer, H.2
-
16
-
-
0025634599
-
Expression of normal and cystic fibrosis phenotypes by continuous airway epithelial cell lines
-
Lung Cell. Mol. Physiol. 3
-
Jefferson, D. M., J. D. Valentich, F. C. Marini, S. A. Grubman, M. C. Iannuzzi, H. L. Dorkin, M. Li, K. W. Klinger, and M. J. Welsh. Expression of normal and cystic fibrosis phenotypes by continuous airway epithelial cell lines. Am. J. Physiol. 259 (Lung Cell. Mol. Physiol. 3): L496-L505, 1990.
-
(1990)
Am. J. Physiol.
, vol.259
-
-
Jefferson, D.M.1
Valentich, J.D.2
Marini, F.C.3
Grubman, S.A.4
Iannuzzi, M.C.5
Dorkin, H.L.6
Li, M.7
Klinger, K.W.8
Welsh, M.J.9
-
17
-
-
0031853136
-
Partial restoration of cAMP-stimulated CFTR chloride channel activity in ΔF508 cells by deoxyspergualin
-
Cell Physiol. 44
-
Jiang, C., S. L. Fang, Y.-F. Xiao, S. P. O'Connor, S. G. Nadler, D. W. Lee, D. M. Jefferson, J. M. Kaplan, A. E. Smith, and S. H. Cheng. Partial restoration of cAMP-stimulated CFTR chloride channel activity in ΔF508 cells by deoxyspergualin. Am. J. Physiol. 275 (Cell Physiol. 44): C171-C178, 1998.
-
(1998)
Am. J. Physiol.
, vol.275
-
-
Jiang, C.1
Fang, S.L.2
Xiao, Y.-F.3
O'Connor, S.P.4
Nadler, S.G.5
Lee, D.W.6
Jefferson, D.M.7
Kaplan, J.M.8
Smith, A.E.9
Cheng, S.H.10
-
18
-
-
0026918861
-
Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis
-
Johnson, L. G., J. C. Olsen, B. Sarkadi, K. L. Moore, R. Swanstrom, and R. C. Boucher. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nat. Genet. 2: 21-25, 1992.
-
(1992)
Nat. Genet.
, vol.2
, pp. 21-25
-
-
Johnson, L.G.1
Olsen, J.C.2
Sarkadi, B.3
Moore, K.L.4
Swanstrom, R.5
Boucher, R.C.6
-
19
-
-
0030900255
-
In vivo activation of the cystic fibrosis transmembrane conductance regulator mutant ΔF508 in murine nasal epithelium
-
Kelley, T. J., K. Thomas, L. J. Milgram, and M. L. Drumm. In vivo activation of the cystic fibrosis transmembrane conductance regulator mutant ΔF508 in murine nasal epithelium. Proc. Natl. Acad. Sci. USA 94: 2604-2608, 1997.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 2604-2608
-
-
Kelley, T.J.1
Thomas, K.2
Milgram, L.J.3
Drumm, M.L.4
-
20
-
-
0028991826
-
In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
-
Knowles, M. R., A. M. Paradiso, and R. C. Boucher. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum. Gene Ther. 6: 445-455, 1995.
-
(1995)
Hum. Gene Ther.
, vol.6
, pp. 445-455
-
-
Knowles, M.R.1
Paradiso, A.M.2
Boucher, R.C.3
-
21
-
-
0028264035
-
Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding
-
Logan, J., D. Hiestand, P. Daram, Z. Huang, D. D. Muccio, J. Hartman, B. Haley, W. J. Cook, and E. J. Sorscher. Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding. J. Clin. Invest. 94: 228-236, 1994.
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 228-236
-
-
Logan, J.1
Hiestand, D.2
Daram, P.3
Huang, Z.4
Muccio, D.D.5
Hartman, J.6
Haley, B.7
Cook, W.J.8
Sorscher, E.J.9
-
22
-
-
0029766205
-
Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D
-
Parad, R. B. Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D. J. Med. Genet. 33: 711-713, 1996.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 711-713
-
-
Parad, R.B.1
-
23
-
-
0031006695
-
Localization and suppression of a kinetic defect in cystic fibrosis transmembrane conductance regulator folding
-
Qu, B. H., E. H. Strickland, and P. J. Thomas. Localization and suppression of a kinetic defect in cystic fibrosis transmembrane conductance regulator folding. J. Biol. Chem. 272: 15739-15744, 1997.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 15739-15744
-
-
Qu, B.H.1
Strickland, E.H.2
Thomas, P.J.3
-
24
-
-
0030809817
-
In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing ΔF508-CFTR
-
Rubenstein, R. C., M. E. Egan, and P. L. Zeitlin. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing ΔF508-CFTR. J. Clin. Invest. 100: 2457-2465, 1997.
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 2457-2465
-
-
Rubenstein, R.C.1
Egan, M.E.2
Zeitlin, P.L.3
-
25
-
-
33747066865
-
Cystic fibrosis mutation database. Cystic fibrosis mutation distribution by continent
-
Online [1998]
-
The Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation database. Cystic fibrosis mutation distribution by continent. [Online] The Cystic Fibrosis Genetic Analysis Consortium. http://www.genet.sickkids.on.ca/sftr/rptTable2.html [1998]
-
The Cystic Fibrosis Genetic Analysis Consortium
-
-
-
26
-
-
15844378935
-
Geographic distribution and origin of CFTR mutations in Germany
-
Tummler, B., T. Storrs, V. Dziadek, T. Dork, T. Meitinger, A. Golla, R. M. Bertele-Harms, H. K. Harms, E. Schroder, A. Claass, J. Rutjes, R. Schneppenheim, I. Bauer, K. Breuel, M. Stuhrmann, J. Schmidtke, M. Lindner, A. Eigel, J. Horst, R. Kaiser, M. J. Lentze, K. Schmidt, H. von der Hardt, and X. Estivill. Geographic distribution and origin of CFTR mutations in Germany. Hum. Genet. 97: 727-731, 1996.
-
(1996)
Hum. Genet.
, vol.97
, pp. 727-731
-
-
Tummler, B.1
Storrs, T.2
Dziadek, V.3
Dork, T.4
Meitinger, T.5
Golla, A.6
Bertele-Harms, R.M.7
Harms, H.K.8
Schroder, E.9
Claass, A.10
Rutjes, J.11
Schneppenheim, R.12
Bauer, I.13
Breuel, K.14
Stuhrmann, M.15
Schmidtke, J.16
Lindner, M.17
Eigel, A.18
Horst, J.19
Kaiser, R.20
Lentze, M.J.21
Schmidt, K.22
Von Der Hardt, H.23
Estivill, X.24
more..
-
27
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh, M. J., and A. E. Smith. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73: 1251-1254, 1993.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
28
-
-
0024557278
-
2+ ionophores in cystic fibrosis airway epithelia
-
Cell Physiol. 25
-
2+ ionophores in cystic fibrosis airway epithelia. Am. J. Physiol. 256 (Cell Physiol. 25): C226-C233, 1989.
-
(1989)
Am. J. Physiol.
, vol.256
-
-
Willumsen, N.J.1
Boucher, R.C.2
-
29
-
-
0024547744
-
Shunt resistance and ion permeabilities in normal and cystic fibrosis airway epithelia
-
Cell Physiol. 25
-
Willumsen, N. J., and R. C. Boucher. Shunt resistance and ion permeabilities in normal and cystic fibrosis airway epithelia. Am. J. Physiol. 256 (Cell Physiol. 25): C1054-C1063, 1989.
-
(1989)
Am. J. Physiol.
, vol.256
-
-
Willumsen, N.J.1
Boucher, R.C.2
|