-
1
-
-
0003720078
-
-
Scriver, C.L., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), McGraw-Hill, New York, NY.
-
Welsh, M.J., Tsui, L.-C., Boat, T.F. and Beaudet, A.L. (1995) In Scriver, C.L., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, Cystic Fibrosis. McGraw-Hill, New York, NY. pp. 3799-3876.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, Cystic Fibrosis
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudet, A.L.4
-
2
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens, J.M., Iannuzzi, M.C., Kerem, B.S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.-C. and Collins, F.S. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245, 1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.S.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
Rozmahel, R.7
Cole, J.8
Kennedy, D.9
Hidaka, N.10
Zsiga, M.11
Buchwald, M.12
Riordan, J.R.13
Tsui, L.-C.14
Collins, F.S.15
-
3
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan, J.R., Rommens, J.M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielinsfci, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, ML., Iannuzzi, M.C., Collins, F.S. and Tsui, L.-C. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science, 245, 1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.-S.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
Zielinsfci, J.7
Lok, S.8
Plavsic, N.9
Chou, J.-L.10
Drumm, M.L.11
Iannuzzi, M.C.12
Collins, F.S.13
Tsui, L.-C.14
-
4
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem, B.-S., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M. and Tsui, L.-C. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.-C.8
-
5
-
-
0026532895
-
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
-
Bear, C.E., Li, C., Kartner, N., Bridges, R.J., Jensen, T.J., Ramjeesingh, M. and Riordan, J.R. (1992) Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell, 68, 809-818.
-
(1992)
Cell
, vol.68
, pp. 809-818
-
-
Bear, C.E.1
Li, C.2
Kartner, N.3
Bridges, R.J.4
Jensen, T.J.5
Ramjeesingh, M.6
Riordan, J.R.7
-
7
-
-
0028906612
-
The two nucleotide-binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) have distinct functions in controlling channel activity
-
Carson, M.R., Travis, S.M. and Welsh, M.I. (1995) The two nucleotide-binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) have distinct functions in controlling channel activity. J. Biol. Chem., 270, 1711-1717.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 1711-1717
-
-
Carson, M.R.1
Travis, S.M.2
Welsh, M.I.3
-
9
-
-
0025987020
-
Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel
-
Cheng, S.H., Rich, D.P., Marshall, J., Gregory, R.J., Welsh, M.J. and Smith, A.B. (1991) Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel. Cell, 66, 1027-1036.
-
(1991)
Cell
, vol.66
, pp. 1027-1036
-
-
Cheng, S.H.1
Rich, D.P.2
Marshall, J.3
Gregory, R.J.4
Welsh, M.J.5
Smith, A.B.6
-
10
-
-
0027171978
-
- channel by negative charge in the R domain
-
- channel by negative charge in the R domain. J. Biol. Chem., 268, 20259-20267.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 20259-20267
-
-
Rich, D.P.1
Berger, H.A.2
Cheng, S.H.3
Travis, S.M.4
Saxena, M.5
Smith, A.E.6
Welsh, M.J.7
-
11
-
-
0025744023
-
Effect of deleting the R domain on CFTR-generated chloride channels
-
Rich, D.P., Gregory, R.J., Anderson, M.P., Manavalan, P., Smith, A.E. and Welsh, M.J. (1991) Effect of deleting the R domain on CFTR-generated chloride channels. Science, 253, 205-207.
-
(1991)
Science
, vol.253
, pp. 205-207
-
-
Rich, D.P.1
Gregory, R.J.2
Anderson, M.P.3
Manavalan, P.4
Smith, A.E.5
Welsh, M.J.6
-
12
-
-
0030836234
-
Function of the R domain in the cystic fibrosis transmembrane conductance regulator chloride channel
-
Ma, J., Zhao, J., Drumm, M.L., Xie, J. and Davis, PB. (1997) Function of the R domain in the cystic fibrosis transmembrane conductance regulator chloride channel. J. Biol. Chem., 272, 28133-28141.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 28133-28141
-
-
Ma, J.1
Zhao, J.2
Drumm, M.L.3
Xie, J.4
Davis, P.B.5
-
13
-
-
0030931648
-
Stimulation of CFTR activity by its phosphorylated R domain
-
Winter, M.C. and Welsh, M.J. (1997) Stimulation of CFTR activity by its phosphorylated R domain. Nature, 389, 294-296.
-
(1997)
Nature
, vol.389
, pp. 294-296
-
-
Winter, M.C.1
Welsh, M.J.2
-
14
-
-
0027264528
-
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients
-
Audrézet, M.P., Novelli, G., Mercier, B., Sangiuolo, F., Maceratesi, P., Férec, C. and Dallapiccola, B. (1993) Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Hum. Hered., 43, 295-300.
-
(1993)
Hum. Hered.
, vol.43
, pp. 295-300
-
-
Audrézet, M.P.1
Novelli, G.2
Mercier, B.3
Sangiuolo, F.4
Maceratesi, P.5
Férec, C.6
Dallapiccola, B.7
-
15
-
-
7344242717
-
-
CF Genetic Analysis Consortium
-
CF Genetic Analysis Consortium at http://www.genet.sickkids.on.ca
-
-
-
-
16
-
-
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., O'Riordan, C.R. and Smith, A.E. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell, 63, 827-834.
-
(1990)
Cell
, vol.63
, 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
O'Riordan, C.R.7
Smith, A.E.8
-
17
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh, M.J. and Smith, A.E. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell, 73, 1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
18
-
-
7344224475
-
Structure and function of the regulatory or R domain of CFTR
-
Ma, J., Drumm, M.L., Zhao, J., Zerhusen, B., Tasch, J. and Davis, P.B. (1997) Structure and function of the regulatory or R domain of CFTR. Pediat. Pulmonol., 14 (suppl.), 171-172.
-
(1997)
Pediat. Pulmonol.
, vol.14
, Issue.SUPPL.
, pp. 171-172
-
-
Ma, J.1
Drumm, M.L.2
Zhao, J.3
Zerhusen, B.4
Tasch, J.5
Davis, P.B.6
-
19
-
-
0028328921
-
A two-domain model for the R domain of the cystic fibrosis transmembrane conductance regulator based on sequence similarities
-
Dulhanty, A.M. and Riordan, J.R. (1994) A two-domain model for the R domain of the cystic fibrosis transmembrane conductance regulator based on sequence similarities. FEBS Lett., 343, 109-114.
-
(1994)
FEBS Lett.
, vol.343
, pp. 109-114
-
-
Dulhanty, A.M.1
Riordan, J.R.2
-
20
-
-
0030915747
-
A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator
-
Annereau, J.-P. Wulbrand, U., Vankeerberghen, A., Cuppens, H., Bontems, F., Tümmler, B., Cassiman, J.-J. and Stoven, V. (1997) A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator. FEBS Lett., 407, 303-308.
-
(1997)
FEBS Lett.
, vol.407
, pp. 303-308
-
-
Annereau, J.-P.1
Wulbrand, U.2
Vankeerberghen, A.3
Cuppens, H.4
Bontems, F.5
Tümmler, B.6
Cassiman, J.-J.7
Stoven, V.8
-
21
-
-
0025912486
-
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
-
Gregory, R.J., Rich, D.P., Cheng, S.H., Souza, D.W., Paul, S., Manavalan, P., Anderson, M.P., Welsh, M. and Smith, A.E. (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol. Cell. Biol., 11, 3886-3893.
-
(1991)
Mol. Cell. Biol.
, vol.11
, pp. 3886-3893
-
-
Gregory, R.J.1
Rich, D.P.2
Cheng, S.H.3
Souza, D.W.4
Paul, S.5
Manavalan, P.6
Anderson, M.P.7
Welsh, M.8
Smith, A.E.9
-
22
-
-
0030816586
-
CFTR activation: Additive effects of stimulatory and inhibitory phosphorylation sites in the R domain
-
Wilkinson, D.J., Strong, T.V., Mansoura, M.K., Wood, D.C., Smith, S.S., Collins, F.S. and Dawson, D.C. (1997) CFTR activation: additive effects of stimulatory and inhibitory phosphorylation sites in the R domain. Am. J. Physiol., 17, L127-L133.
-
(1997)
Am. J. Physiol.
, vol.17
-
-
Wilkinson, D.J.1
Strong, T.V.2
Mansoura, M.K.3
Wood, D.C.4
Smith, S.S.5
Collins, F.S.6
Dawson, D.C.7
-
23
-
-
0028929909
-
Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency
-
Sheppard D.N., Ostedgaard, L.S., Winter, M.C. and Welsh, M.J. (1995) Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. EMBO J., 14, 876-883.
-
(1995)
EMBO J.
, vol.14
, pp. 876-883
-
-
Sheppard, D.N.1
Ostedgaard, L.S.2
Winter, M.C.3
Welsh, M.J.4
-
24
-
-
0029060107
-
- channel activity compensates for detective processing in a cystic fibrosis mutant corresponding to a mild form of the disease
-
- channel activity compensates for detective processing in a cystic fibrosis mutant corresponding to a mild form of the disease. EMBO J., 14, 2417-2423.
-
(1995)
EMBO J.
, vol.14
, pp. 2417-2423
-
-
Champigny, G.1
Imler, J.-L.2
Puchellc, E.3
Dalemans, W.4
Gribkoff, V.5
Hinnrasky, J.6
Dott, K.7
Barbry, P.8
Pavirani, A.9
Lazdunski, M.10
-
25
-
-
0028982894
-
CFTR as a cAMP-dependent regulator of sodium channels
-
Stutts, M.J., Canessa, C.M., Olsen, J.C., Hamrick, M., Cohn, J.A., Rossier, B.C. and Boucher, R.C. (1995) CFTR as a cAMP-dependent regulator of sodium channels. Science, 269, 847-850.
-
(1995)
Science
, vol.269
, pp. 847-850
-
-
Stutts, M.J.1
Canessa, C.M.2
Olsen, J.C.3
Hamrick, M.4
Cohn, J.A.5
Rossier, B.C.6
Boucher, R.C.7
-
27
-
-
0029912194
-
Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator
-
Ismailov, I.I., Awayda, M.S., Jovov, B., Berdiev, B.K., Fuller, C.M., Dedman, J.R., Kaetzel, M.A. and Benos, D.J. (1996) Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem., 271, 4725-4732.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 4725-4732
-
-
Ismailov, I.I.1
Awayda, M.S.2
Jovov, B.3
Berdiev, B.K.4
Fuller, C.M.5
Dedman, J.R.6
Kaetzel, M.A.7
Benos, D.J.8
-
28
-
-
0030970422
-
Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics
-
Stutts, M.J., Rossier, B.C. and Boucher, R.C. (1997) Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics. J. Biol. Chem., 272, 14037-14040.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 14037-14040
-
-
Stutts, M.J.1
Rossier, B.C.2
Boucher, R.C.3
-
29
-
-
0027191065
-
CFTR and outwardly rectifying channels are distinct proteins with a regulatory relationship
-
Gabriel, S.E., Clarke, L.L., Boucher, R.C. and Stutts, M.J. (1993) CFTR and outwardly rectifying channels are distinct proteins with a regulatory relationship. Nature, 363, 263-266.
-
(1993)
Nature
, vol.363
, pp. 263-266
-
-
Gabriel, S.E.1
Clarke, L.L.2
Boucher, R.C.3
Stutts, M.J.4
-
30
-
-
0028980536
-
CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP
-
Schwiebert, E.M., Egan, M.E., Hwang, T.-H., Fulmer, S.B., Allen, S.S., Cutting, G.R. and Guggino, W.B. (1995) CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell, 81, 1063-1073.
-
(1995)
Cell
, vol.81
, pp. 1063-1073
-
-
Schwiebert, E.M.1
Egan, M.E.2
Hwang, T.-H.3
Fulmer, S.B.4
Allen, S.S.5
Cutting, G.R.6
Guggino, W.B.7
-
32
-
-
0032481418
-
- channel and CFTR-associated ATP channel: Distinct pores regulated by common gates
-
- channel and CFTR-associated ATP channel: distinct pores regulated by common gates. EMBO J., 17, 898-908.
-
(1998)
EMBO J.
, vol.17
, pp. 898-908
-
-
Sugita, M.1
Yue, Y.2
Foskett, J.K.3
-
33
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes
-
Cuppens, H., Lin, W., Jaspers, M., Costes, B., Teng, H., Vankeerberghen, A., Jorissen, M., Droogmans, G., Reynaert, I., Goossens, M., Nilius, B. and Cassiman, J.-J. (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J. Clin. Invest., 101, 487-496.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
Costes, B.4
Teng, H.5
Vankeerberghen, A.6
Jorissen, M.7
Droogmans, G.8
Reynaert, I.9
Goossens, M.10
Nilius, B.11
Cassiman, J.-J.12
-
34
-
-
0028794627
-
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients
-
Mercier, B., Verlingue, C., Lissens, W., Silber, S.J., Novelli, G. Bonduelle, M., Audrézet, M.P. and Férec, C. (1995) Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients. Am. J Hum. Genet., 56, 272-277.
-
(1995)
Am. J Hum. Genet.
, vol.56
, pp. 272-277
-
-
Mercier, B.1
Verlingue, C.2
Lissens, W.3
Silber, S.J.4
Novelli, G.5
Bonduelle, M.6
Audrézet, M.P.7
Férec, C.8
-
35
-
-
0027518961
-
Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations
-
Mereier, B., Lissens, W., Audrézet, M.P., Bonduelle, M., Liehaers, I. and Férec, C. (1993) Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. Hum. Mut., 2, 16-20.
-
(1993)
Hum. Mut.
, vol.2
, pp. 16-20
-
-
Mereier, B.1
Lissens, W.2
Audrézet, M.P.3
Bonduelle, M.4
Liehaers, I.5
Férec, C.6
-
36
-
-
0025114509
-
Expression and characterization of the cystic fibrosis transmembrane conductance regulator
-
Gregory, R.J., Cheng, S.H., Rich, D.P., Marshall, J., Paul, S., Hehir, K., Ostedgaard, L., Klinger, K.W., Welsh, M.J. and Smith, A.E. (1990) Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature, 347, 382-386.
-
(1990)
Nature
, vol.347
, pp. 382-386
-
-
Gregory, R.J.1
Cheng, S.H.2
Rich, D.P.3
Marshall, J.4
Paul, S.5
Hehir, K.6
Ostedgaard, L.7
Klinger, K.W.8
Welsh, M.J.9
Smith, A.E.10
-
37
-
-
0030861215
-
Use of a bicistronic GFP-expression vector to characterise ion channels after transfection in mammalian cells
-
Trouet, D., Nilius, B., Voets, T., Droogmans, G. and Eggermont, J. (1997) Use of a bicistronic GFP-expression vector to characterise ion channels after transfection in mammalian cells. Pflügen Arch., 434, 632-638.
-
(1997)
Pflügen Arch.
, vol.434
, pp. 632-638
-
-
Trouet, D.1
Nilius, B.2
Voets, T.3
Droogmans, G.4
Eggermont, J.5
-
38
-
-
0024830831
-
Kinetic properties of the cardiac T-type calcium channel in the guinea-pig
-
Droogmans, G. and Nilius, B. (1989) Kinetic properties of the cardiac T-type calcium channel in the guinea-pig. J. Physiol., 419, 627-650.
-
(1989)
J. Physiol.
, vol.419
, pp. 627-650
-
-
Droogmans, G.1
Nilius, B.2
|