-
2
-
-
0022413731
-
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7
-
Knowlton RG, Cohen-Haguenauer O, Van Cong N, et al. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 1985, 318:380-382.
-
(1985)
Nature
, vol.318
, pp. 380-382
-
-
Knowlton, R.G.1
Cohen-Haguenauer, O.2
Van Cong, N.3
-
3
-
-
0022350960
-
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
-
Tsui LC, Buchwald M, Barker D, et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 1985, 239:1054-1057.
-
(1985)
Science
, vol.239
, pp. 1054-1057
-
-
Tsui, L.C.1
Buchwald, M.2
Barker, D.3
-
4
-
-
0024453308
-
Identification of the cystic fibrosis gene. Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene. Chromosome walking and jumping. Science 1989, 245:1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.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, 245:1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
-
6
-
-
12944268995
-
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes
-
Ellsworth RE, Jamison DC, Touchman JW, et al. Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. proc Natl Acad Sci USA 2000, 97:1172-1177.
-
(2000)
proc Natl Acad Sci USA
, vol.97
, pp. 1172-1177
-
-
Ellsworth, R.E.1
Jamison, D.C.2
Touchman, J.W.3
-
7
-
-
0041465867
-
Comparative analyses of multi-species sequences from targeted genomic regions
-
Thomas JW, Touchman JW, Blakesley RW, et al. Comparative analyses of multi-species sequences from targeted genomic regions. Nature 2003, 424:788-793.
-
(2003)
Nature
, vol.424
, pp. 788-793
-
-
Thomas, J.W.1
Touchman, J.W.2
Blakesley, R.W.3
-
8
-
-
0026327058
-
Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene
-
Chou J-L, Rozmahel R, Tsui LC Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem 1991, 266:24471-24476.
-
(1991)
J Biol Chem
, vol.266
, pp. 24471-24476
-
-
Chou, J.-L.1
Rozmahel, R.2
Tsui, L.C.3
-
9
-
-
0027185802
-
Characterization of the cystic fibrosis transmembrane conductance regulator promoter region
-
Koh J, Sferra TJ, Collins FS Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. J Biol Chem 1993, 268:15912-15921.
-
(1993)
J Biol Chem
, vol.268
, pp. 15912-15921
-
-
Koh, J.1
Sferra, T.J.2
Collins, F.S.3
-
10
-
-
0025776409
-
The cystic fibrosis gene has a "housekeeping"-type promoter and is expressed at low levels in cells of epithelial origin
-
Yoshimura K, Nakamura H, Trapnell BC, et al. The cystic fibrosis gene has a "housekeeping"-type promoter and is expressed at low levels in cells of epithelial origin. J Biol Chem 1991, 266:9140-9144.
-
(1991)
J Biol Chem
, vol.266
, pp. 9140-9144
-
-
Yoshimura, K.1
Nakamura, H.2
Trapnell, B.C.3
-
11
-
-
0026951303
-
Submucosal glands are the predominant site of CFTR expression in the human bronchus
-
Engelhardt JF, Yankaskas JR, Ernst SA, et al. Submucosal glands are the predominant site of CFTR expression in the human bronchus. Nat Genet 1992, 2:240-247.
-
(1992)
Nat Genet
, vol.2
, pp. 240-247
-
-
Engelhardt, J.F.1
Yankaskas, J.R.2
Ernst, S.A.3
-
12
-
-
0027195534
-
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues
-
Tizzano EF, Chitayat D, Buchwald M Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues. Hum Mol Genet 1993, 2:219-224.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 219-224
-
-
Tizzano, E.F.1
Chitayat, D.2
Buchwald, M.3
-
13
-
-
0027207509
-
Expression of the cystic fibrosis gene in human foetal tissues
-
Trezise AEO, Chambers JA, Wardle CJ, et al. Expression of the cystic fibrosis gene in human foetal tissues. Hum Mol Genet 1993, 2(3):213-218.
-
(1993)
Hum Mol Genet
, vol.2
, Issue.3
, pp. 213-218
-
-
Trezise, A.E.O.1
Chambers, J.A.2
Wardle, C.J.3
-
14
-
-
10544220417
-
Characterization of the cAMP response element of the cystic fibrosis transmembrane conductance regulator gene promoter
-
Matthews RP, McKnight GS Characterization of the cAMP response element of the cystic fibrosis transmembrane conductance regulator gene promoter. J Biol Chem 1996, 271:31869-31877.
-
(1996)
J Biol Chem
, vol.271
, pp. 31869-31877
-
-
Matthews, R.P.1
McKnight, G.S.2
-
15
-
-
0033037137
-
In vivo analysis of DNase I hypersensitive sites in the human CFTR gene
-
Moulin DS, Manson AL, Nuthall HN, et al. In vivo analysis of DNase I hypersensitive sites in the human CFTR gene. Mol Med 1999, 5:211-223.
-
(1999)
Mol Med
, vol.5
, pp. 211-223
-
-
Moulin, D.S.1
Manson, A.L.2
Nuthall, H.N.3
-
16
-
-
0033485416
-
Analysis of a DNase I hypersensitive site located -20.9 kb upstream of the CFTR gene
-
Nuthall HN, Vassaux G, Huxley C, Harris A Analysis of a DNase I hypersensitive site located -20.9 kb upstream of the CFTR gene. Eur J Biochem 1999, 266:431-443.
-
(1999)
Eur J Biochem
, vol.266
, pp. 431-443
-
-
Nuthall, H.N.1
Vassaux, G.2
Huxley, C.3
Harris, A.4
-
17
-
-
0034652630
-
Multiple potential intragenic regulatory elements in the CFTR gene
-
Smith DJ, Nuthall HN, Majetti ME, Harris A Multiple potential intragenic regulatory elements in the CFTR gene. Genomics 2000, 64:90-96.
-
(2000)
Genomics
, vol.64
, pp. 90-96
-
-
Smith, D.J.1
Nuthall, H.N.2
Majetti, M.E.3
Harris, A.4
-
18
-
-
4544323362
-
Strain-specific variants of the mouse Cftr promoter region reveal transcriptional regulatory elements
-
Ulatowski LM, Whitmore KL, Romigh T, et al. Strain-specific variants of the mouse Cftr promoter region reveal transcriptional regulatory elements. Hum Mol Genet 2004, 13:1933-1941.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1933-1941
-
-
Ulatowski, L.M.1
Whitmore, K.L.2
Romigh, T.3
-
19
-
-
0242318710
-
Splicing of the CFTR gene
-
Wiley & Sons, Chichester, J.A. Dodge, D.J.H. Brock, J.H. Widdicombe (Eds.)
-
Cutting GR Splicing of the CFTR gene. Current Topics in Cystic Fibrosis 1994, II:55-74. Wiley & Sons, Chichester. J.A. Dodge, D.J.H. Brock, J.H. Widdicombe (Eds.).
-
(1994)
Current Topics in Cystic Fibrosis
, vol.II
, pp. 55-74
-
-
Cutting, G.R.1
-
20
-
-
0028272099
-
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells
-
Hull J, Shackleton S, Harris A Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells. Hum Mol Genet 1994, 3:1141-1146.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1141-1146
-
-
Hull, J.1
Shackleton, S.2
Harris, A.3
-
21
-
-
0027199476
-
Alternative splicing of CFTR Cl- channels in the heart
-
pt. 2
-
Horowitz B, Tsung SS, Hart P, et al. Alternative splicing of CFTR Cl- channels in the heart. Am J Physiol 1993, 264(6):H2214-H2220. pt. 2.
-
(1993)
Am J Physiol
, vol.264
, Issue.6
-
-
Horowitz, B.1
Tsung, S.S.2
Hart, P.3
-
22
-
-
0029900698
-
Cystic fibrosis gene encodes a cAMP-dependent chloride channel in heart
-
Hart P, Warth JD, Levesque PC, et al. Cystic fibrosis gene encodes a cAMP-dependent chloride channel in heart. proc Natl Acad Sci USA 1996, 93:6343-6348.
-
(1996)
proc Natl Acad Sci USA
, vol.93
, pp. 6343-6348
-
-
Hart, P.1
Warth, J.D.2
Levesque, P.C.3
-
23
-
-
0029770050
-
Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes
-
Xie J, Drumm ML, Zhao J, et al. Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes. Biophys J 1996, 71:3148-3156.
-
(1996)
Biophys J
, vol.71
, pp. 3148-3156
-
-
Xie, J.1
Drumm, M.L.2
Zhao, J.3
-
24
-
-
0029846003
-
Both the wild type and a functional isoform of CFTR are expressed in kidney
-
Morelos MM, Carroll TP, Morita T, et al. Both the wild type and a functional isoform of CFTR are expressed in kidney. Am J Physiol 1996, 270:F1038-F1048.
-
(1996)
Am J Physiol
, vol.270
-
-
Morelos, M.M.1
Carroll, T.P.2
Morita, T.3
-
25
-
-
0025906695
-
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
-
Chu C-S, Trapnell BC, Murtagh JJ, et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 1991, 10:1355-1363.
-
(1991)
EMBO J
, vol.10
, pp. 1355-1363
-
-
Chu, C.-S.1
Trapnell, B.C.2
Murtagh, J.J.3
-
26
-
-
0027310434
-
Expression of an abundantly alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance
-
Strong TV, Wilkinson DJ, Mansoura MK, et al. Expression of an abundantly alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum Mol Genet 1993, 2:225-230.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 225-230
-
-
Strong, T.V.1
Wilkinson, D.J.2
Mansoura, M.K.3
-
27
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu C-S, Trapnell BC, Curristin S, et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993, 3:151-156.
-
(1993)
Nat Genet
, vol.3
, pp. 151-156
-
-
Chu, C.-S.1
Trapnell, B.C.2
Curristin, S.3
-
28
-
-
0026656343
-
Extensive post-translational deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis
-
Chu C-S, Trapnell BC, Curristin SM, et al. Extensive post-translational deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest 1992, 90:785-790.
-
(1992)
J Clin Invest
, vol.90
, pp. 785-790
-
-
Chu, C.-S.1
Trapnell, B.C.2
Curristin, S.M.3
-
29
-
-
0032756818
-
Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
-
Niksic M, Romano M, Buratti E, et al. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999, 8:2339-2349.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2339-2349
-
-
Niksic, M.1
Romano, M.2
Buratti, E.3
-
30
-
-
0034647916
-
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionarily conserved intronic element
-
Pagani F, Buratti E, Stuani C, et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionarily conserved intronic element. J Biol Chem 2000, 275:21041-21047.
-
(2000)
J Biol Chem
, vol.275
, pp. 21041-21047
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
-
31
-
-
0035983216
-
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping
-
Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. Am J Hum Genet 2002, 71:294-303.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 294-303
-
-
Hefferon, T.W.1
Broackes-Carter, F.C.2
Harris, A.3
Cutting, G.R.4
-
32
-
-
0030687683
-
Higher proportion of intact exon 9 CFTR MRNA in nasal epithelium compared with vas deferens
-
Mak V, Jarvi K, Zielenski J, et al. Higher proportion of intact exon 9 CFTR MRNA in nasal epithelium compared with vas deferens. Hum Mol Genet 1997, 6:2099-2107.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2099-2107
-
-
Mak, V.1
Jarvi, K.2
Zielenski, J.3
-
33
-
-
0031023970
-
Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
-
Teng H, Jorissen M, Poppel H, et al. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 1997, 6:85-90.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 85-90
-
-
Teng, H.1
Jorissen, M.2
Poppel, H.3
-
34
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the 5T polymorphism as a disease mutation
-
Cuppens H, Lin W, Jaspers M, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the 5T polymorphism as a disease mutation. J Clin Invest 1998, 101:487-496.
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
-
35
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti E, Dork T, Zuccato E, et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001, 20:1774-1784.
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
Dork, T.2
Zuccato, E.3
-
36
-
-
1542723471
-
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing
-
Hefferon TW, Groman JD, Yurk CE, Cutting GR A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. proc Natl Acad Sci USA 2004, 101:3504-3509.
-
(2004)
proc Natl Acad Sci USA
, vol.101
, pp. 3504-3509
-
-
Hefferon, T.W.1
Groman, J.D.2
Yurk, C.E.3
Cutting, G.R.4
-
37
-
-
9144235448
-
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
-
Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004, 74:176-179.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
-
38
-
-
0027298830
-
Alternative splicing in the first nucleotide binding fold of CFTR
-
Will K, Stuhrmann M, Dean M, Schmidtke J Alternative splicing in the first nucleotide binding fold of CFTR. Hum Mol Genet 1993, 2:231-235.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 231-235
-
-
Will, K.1
Stuhrmann, M.2
Dean, M.3
Schmidtke, J.4
-
39
-
-
0027184810
-
Alternative splicing of a previously unidentified CFTR exon introduces an in-frame stop codon 5' of the R region
-
Melo CA, Serra C, Stoyanova V, et al. Alternative splicing of a previously unidentified CFTR exon introduces an in-frame stop codon 5' of the R region. FEBS Lett 1993, 329(1,2):159-162.
-
(1993)
FEBS Lett
, vol.329
, Issue.1-2
, pp. 159-162
-
-
Melo, C.A.1
Serra, C.2
Stoyanova, V.3
-
40
-
-
0027249601
-
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels
-
Delaney SJ, Rich DP, Thomson SA, et al. Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet 1993, 4:426-430.
-
(1993)
Nat Genet
, vol.4
, pp. 426-430
-
-
Delaney, S.J.1
Rich, D.P.2
Thomson, S.A.3
-
41
-
-
0026800854
-
Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
-
Slomski R, Schloesser M, Berg LP, et al. Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet 1992, 89:615-619.
-
(1992)
Hum Genet
, vol.89
, pp. 615-619
-
-
Slomski, R.1
Schloesser, M.2
Berg, L.P.3
-
42
-
-
0027392872
-
Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus
-
Yoshimura K, Chu CS, Crystal RG Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus. J Biol Chem 1993, 268:686-690.
-
(1993)
J Biol Chem
, vol.268
, pp. 686-690
-
-
Yoshimura, K.1
Chu, C.S.2
Crystal, R.G.3
-
43
-
-
0032764573
-
Complex allele [-102T> A + S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone
-
Romey MC, Guittard C, Chazalette JP, et al. Complex allele [-102T> A + S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone. Hum Genet 1999, 105:145-150.
-
(1999)
Hum Genet
, vol.105
, pp. 145-150
-
-
Romey, M.C.1
Guittard, C.2
Chazalette, J.P.3
-
44
-
-
0034638436
-
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population
-
Wang X, Moylan B, Leopold DA, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000, 284:1814-1819.
-
(2000)
JAMA
, vol.284
, pp. 1814-1819
-
-
Wang, X.1
Moylan, B.2
Leopold, D.A.3
-
45
-
-
0042420388
-
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
-
Aznarez I, Chan EM, Zielenski J, et al. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 2003, 12:2031-2040.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2031-2040
-
-
Aznarez, I.1
Chan, E.M.2
Zielenski, J.3
-
46
-
-
3442898752
-
The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles
-
Steiner B, Truninger K, Sanz J, et al. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. Hum Mutat 2004, 24:120-129.
-
(2004)
Hum Mutat
, vol.24
, pp. 120-129
-
-
Steiner, B.1
Truninger, K.2
Sanz, J.3
-
47
-
-
0036258208
-
Cystic fibrosis. A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
-
Bobadilla JL, Macek M, Fine JP, Farrell PM Cystic fibrosis. A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002, 19:575-606.
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek, M.2
Fine, J.P.3
Farrell, P.M.4
-
48
-
-
84882548191
-
-
WHO/ECFTN/ICF(M)A/EC. F. S.: The molecular genetic epidemiology of cystic fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS, Genoa, Italy, 19 June 2002. 6-19-2002. WHO
-
WHO/ECFTN/ICF(M)A/EC. F. S.: The molecular genetic epidemiology of cystic fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS, Genoa, Italy, 19 June 2002. 6-19-2002. WHO.
-
-
-
-
49
-
-
0026629124
-
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians
-
Cutting GR, Curristin SM, Nash E, et al. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 1992, 50:1185-1194.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1185-1194
-
-
Cutting, G.R.1
Curristin, S.M.2
Nash, E.3
-
50
-
-
16944366526
-
Identification of common CF mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
-
Macek M, Macoková A, Hamosh A, et al. Identification of common CF mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997, 60:1122-1127.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1122-1127
-
-
Macek, M.1
Macoková, A.2
Hamosh, A.3
-
51
-
-
19244364425
-
First report of CFTR mutations in black cystic fibrosis patients of southern African origin
-
Carles S, Desgeorges M, Goldman A, et al. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996, 33:802-804.
-
(1996)
J Med Genet
, vol.33
, pp. 802-804
-
-
Carles, S.1
Desgeorges, M.2
Goldman, A.3
-
52
-
-
0027029554
-
Identification of a novel nonsense mutation (L88X) in exon 3 of the CFTR gene on a native Korean cystic fibrosis chromosome
-
Macek M, Hamosh A, Kiesewetter S, et al. Identification of a novel nonsense mutation (L88X) in exon 3 of the CFTR gene on a native Korean cystic fibrosis chromosome. Hum Mutat 1992, 1:501-502.
-
(1992)
Hum Mutat
, vol.1
, pp. 501-502
-
-
Macek, M.1
Hamosh, A.2
Kiesewetter, S.3
-
53
-
-
16944363988
-
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
-
Macek M, Mercier B, Macková A, et al. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997, 9:136-147.
-
(1997)
Hum Mutat
, vol.9
, pp. 136-147
-
-
Macek, M.1
Mercier, B.2
Macková, A.3
-
54
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium
-
Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997, 10:135-154.
-
(1997)
Hum Mutat
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
55
-
-
0027432649
-
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population
-
Zielenski J, Fujiwara TM, Markiewicz D, et al. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Med Genet 1993, 52:609-615.
-
(1993)
Am J Med Genet
, vol.52
, pp. 609-615
-
-
Zielenski, J.1
Fujiwara, T.M.2
Markiewicz, D.3
-
56
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
-
57
-
-
0027379755
-
Direct sequencing of the complete CFTR gene. The molecular characterisation of 99.5% of CF chromosomes in Wales
-
Cheadle JP, Goodchild MC, Meredith AL Direct sequencing of the complete CFTR gene. The molecular characterisation of 99.5% of CF chromosomes in Wales. Hum Mol Genet 1993, 2:1551-1556.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1551-1556
-
-
Cheadle, J.P.1
Goodchild, M.C.2
Meredith, A.L.3
-
58
-
-
0033960887
-
Screening practices for mutations in the CFTR gene ABCC7
-
Girodon-Boulandet E, Cazeneuve C, Goossens M Screening practices for mutations in the CFTR gene ABCC7. Hum Mutat 2000, 15:135-149.
-
(2000)
Hum Mutat
, vol.15
, pp. 135-149
-
-
Girodon-Boulandet, E.1
Cazeneuve, C.2
Goossens, M.3
-
59
-
-
15544371839
-
Assembly of functional CFTR chloride channels
-
Riordan JR Assembly of functional CFTR chloride channels. Annu Rev Physiol 2005, 67:701-718.
-
(2005)
Annu Rev Physiol
, vol.67
, pp. 701-718
-
-
Riordan, J.R.1
-
60
-
-
0037318653
-
Amazing chloride channels. An overview
-
Nilius B, Droogmans G Amazing chloride channels. An overview. Acta Physiol Scand 2003, 177:119-147.
-
(2003)
Acta Physiol Scand
, vol.177
, pp. 119-147
-
-
Nilius, B.1
Droogmans, G.2
-
61
-
-
0026337305
-
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes
-
Drumm ML, Wilkinson DJ, Smit LS, et al. Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science 1991, 254:1797-1799.
-
(1991)
Science
, vol.254
, pp. 1797-1799
-
-
Drumm, M.L.1
Wilkinson, D.J.2
Smit, L.S.3
-
62
-
-
0024353683
-
Cl- channels in CF. Lack of activation by protein kinase C and cAMP-dependent protein kinase
-
Hwang TC, Lu L, Zeitlin PL, et al. Cl- channels in CF. Lack of activation by protein kinase C and cAMP-dependent protein kinase. Science 1989, 244:1351-1353.
-
(1989)
Science
, vol.244
, pp. 1351-1353
-
-
Hwang, T.C.1
Lu, L.2
Zeitlin, P.L.3
-
63
-
-
19944432524
-
Impact of the ΔF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure
-
Lewis HA, Zhao X, Wang C, et al. Impact of the ΔF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. J Biol Chem 2005, 280:1346-1353.
-
(2005)
J Biol Chem
, vol.280
, pp. 1346-1353
-
-
Lewis, H.A.1
Zhao, X.2
Wang, C.3
-
64
-
-
0034530875
-
Embryonic epithelial membrane transporters
-
Horster M Embryonic epithelial membrane transporters. Am J Physiol Renal Physiol 2000, 279:F982-F996.
-
(2000)
Am J Physiol Renal Physiol
, vol.279
-
-
Horster, M.1
-
65
-
-
0028952775
-
Bioelectric properties of cultured monolayers from epithelium of distal human fetal lung
-
Barker PM, Boucher RC, Yankaskas JR Bioelectric properties of cultured monolayers from epithelium of distal human fetal lung. Am J Physiol 1995, 268:L270-L277.
-
(1995)
Am J Physiol
, vol.268
-
-
Barker, P.M.1
Boucher, R.C.2
Yankaskas, J.R.3
-
66
-
-
0022973473
-
+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation
-
+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation. J Clin Invest 1986, 78:1245-1252.
-
(1986)
J Clin Invest
, vol.78
, pp. 1245-1252
-
-
Boucher, R.C.1
Stutts, M.J.2
Knowles, M.R.3
-
67
-
-
0027191065
-
CFTR and outward rectifying chloride channels are distinct proteins with a regulatory relationship
-
Gabriel SE, Clarke LL, Boucher RC, Stutts MJ CFTR and outward rectifying chloride channels are distinct proteins with a regulatory relationship. Nature 1993, 363:263-268.
-
(1993)
Nature
, vol.363
, pp. 263-268
-
-
Gabriel, S.E.1
Clarke, L.L.2
Boucher, R.C.3
Stutts, M.J.4
-
68
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh MJ, Smith AE Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993, 73:1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
69
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer PA, Dietz HC Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999, 8:1893-1900.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
70
-
-
0026322140
-
Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
-
Hamosh A, Trapnell BC, Zeitlin PL, et al. Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991, 88:1880-1885.
-
(1991)
J Clin Invest
, vol.88
, pp. 1880-1885
-
-
Hamosh, A.1
Trapnell, B.C.2
Zeitlin, P.L.3
-
71
-
-
0027138215
-
Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue
-
Rolfini R, Cabrini G Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue. J Clin Invest 1993, 92:2683-2687.
-
(1993)
J Clin Invest
, vol.92
, pp. 2683-2687
-
-
Rolfini, R.1
Cabrini, G.2
-
72
-
-
0028932916
-
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
-
Will K, Dörk T, Stuhrmann M, et al. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat 1995, 5:210-220.
-
(1995)
Hum Mutat
, vol.5
, pp. 210-220
-
-
Will, K.1
Dörk, T.2
Stuhrmann, M.3
-
73
-
-
0027407911
-
The skipping of constitutive exons in vivo induced by nonsense mutations
-
Dietz HC, Valle D, Francomano CA, et al. The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993, 259:680-683.
-
(1993)
Science
, vol.259
, pp. 680-683
-
-
Dietz, H.C.1
Valle, D.2
Francomano, C.A.3
-
74
-
-
0027958172
-
The stop mutation R553X in the CFTR gene results in exon skipping
-
Hull J, Shackleton S, Harris A The stop mutation R553X in the CFTR gene results in exon skipping. Genomics 1994, 19:362-364.
-
(1994)
Genomics
, vol.19
, pp. 362-364
-
-
Hull, J.1
Shackleton, S.2
Harris, A.3
-
75
-
-
0027298522
-
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
-
Zielenski J, Bozon D, Markiewicz D, et al. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations. Hum Mol Genet 1993, 2:683-687.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 683-687
-
-
Zielenski, J.1
Bozon, D.2
Markiewicz, D.3
-
76
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng SH, Gregory RJ, Marshall J, et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990, 63:827-834.
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
-
77
-
-
0026907529
-
Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland
-
Kartner N, Augustinas O, Jensen TJ, et al. Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland. Nat Genet 1992, 1:321-327.
-
(1992)
Nat Genet
, vol.1
, pp. 321-327
-
-
Kartner, N.1
Augustinas, O.2
Jensen, T.J.3
-
78
-
-
0028858161
-
Multiple proteolytic systems, including the proteasome, contribute to CFTR processing
-
Jensen TJ, Loo MA, Pind S, et al. Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell 1995, 83:129-135.
-
(1995)
Cell
, vol.83
, pp. 129-135
-
-
Jensen, T.J.1
Loo, M.A.2
Pind, S.3
-
79
-
-
0026781952
-
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
-
Denning GM, Anderson MP, Amara JF, et al. 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
-
80
-
-
0027380236
-
The ΔF508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane
-
Lukacs GL, Chang X-B, Bear C, et al. The ΔF508 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.3
-
81
-
-
0029060107
-
- channel activity compensates for defective processing in a mild form of the disease
-
- channel activity compensates for defective processing in a mild form of the disease. EMBO J 1995, 14:2417-2423.
-
(1995)
EMBO J
, vol.14
, pp. 2417-2423
-
-
Champigny, G.1
Imler, J.-L.2
Puchelle, E.3
-
82
-
-
0028929909
-
Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency
-
Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. EMBO J 1995, 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
-
83
-
-
0026667894
-
Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains
-
Anderson MP, Welsh MJ Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains. Science 1992, 257:1701-1704.
-
(1992)
Science
, vol.257
, pp. 1701-1704
-
-
Anderson, M.P.1
Welsh, M.J.2
-
84
-
-
0028264035
-
Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding
-
Logan J, Hiestand D, Daram P, et al. Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding. J Clin Invest 1994, 94:228-236.
-
(1994)
J Clin Invest
, vol.94
, pp. 228-236
-
-
Logan, J.1
Hiestand, D.2
Daram, P.3
-
85
-
-
0025938893
-
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
-
Strong TV, Smit LS, Turpin SV, et al. Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N Engl J Med 1991, 325:1630-1634.
-
(1991)
N Engl J Med
, vol.325
, pp. 1630-1634
-
-
Strong, T.V.1
Smit, L.S.2
Turpin, S.V.3
-
87
-
-
0027423190
-
Multi-ion pore behavior in the CFTR chloride channel
-
Tabcharani JA, Rommens JM, Hou Y-X, et al. Multi-ion pore behavior in the CFTR chloride channel. Nature 1993, 366(4):79-82.
-
(1993)
Nature
, vol.366
, Issue.4
, pp. 79-82
-
-
Tabcharani, J.A.1
Rommens, J.M.2
Hou, Y.-X.3
-
88
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994, 331:974-980.
-
(1994)
N Engl J Med
, vol.331
, pp. 974-980
-
-
Highsmith, W.E.1
Burch, L.H.2
Zhou, Z.3
-
89
-
-
0032956071
-
CFTR is a conductance regulator as well as a chloride channel
-
Schwiebert EM, Benos DJ, Egan ME, et al. CFTR is a conductance regulator as well as a chloride channel. Physiol Rev 1999, 79:S145-S166.
-
(1999)
Physiol Rev
, vol.79
-
-
Schwiebert, E.M.1
Benos, D.J.2
Egan, M.E.3
-
90
-
-
0029118117
-
Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents
-
Fulmer SB, Schwiebert EM, Morales MM, et al. Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. proc Natl Acad Sci USA 1995, 92:6832-6836.
-
(1995)
proc Natl Acad Sci USA
, vol.92
, pp. 6832-6836
-
-
Fulmer, S.B.1
Schwiebert, E.M.2
Morales, M.M.3
-
91
-
-
0029912194
-
Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator
-
Ismailov II, Awayda MS, Jovov B, et al. Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1996, 271:4725-4732.
-
(1996)
J Biol Chem
, vol.271
, pp. 4725-4732
-
-
Ismailov, I.I.1
Awayda, M.S.2
Jovov, B.3
-
92
-
-
0344390884
-
A PDZ-interacting domain in CFTR is an apical membrane polarization signal
-
Moyer BD, Denton J, Karlson KH, et al. A PDZ-interacting domain in CFTR is an apical membrane polarization signal. J Clin Invest 1999, 104:1353-1361.
-
(1999)
J Clin Invest
, vol.104
, pp. 1353-1361
-
-
Moyer, B.D.1
Denton, J.2
Karlson, K.H.3
-
93
-
-
0035886655
-
A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating
-
Fu J, Ji HL, Naren AP, Kirk KL A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating. J Physiol 2001, 536:459-470.
-
(2001)
J Physiol
, vol.536
, pp. 459-470
-
-
Fu, J.1
Ji, H.L.2
Naren, A.P.3
Kirk, K.L.4
-
94
-
-
0027517995
-
Correlation between genotype and phenotype in cystic fibrosis
-
Cystic Fibrosis Genotype/Phenotype Consortium
-
Cystic Fibrosis Genotype/Phenotype Consortium Correlation between genotype and phenotype in cystic fibrosis. N Engl J Med 1993, 329:1308-1313.
-
(1993)
N Engl J Med
, vol.329
, pp. 1308-1313
-
-
-
96
-
-
0026734588
-
Genetic determination of exocrine pancreatic function in cystic fibrosis
-
Kristidis P, Bozon D, Corey M, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992, 50:1178-1184.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1178-1184
-
-
Kristidis, P.1
Bozon, D.2
Corey, M.3
-
97
-
-
0028860909
-
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
-
Wilschanski M, Zielenski J, Markiewicz D, et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 1995, 127:705-710.
-
(1995)
J Pediatr
, vol.127
, pp. 705-710
-
-
Wilschanski, M.1
Zielenski, J.2
Markiewicz, D.3
-
98
-
-
0029003982
-
A cystic fibrosis mutation associated with mild lung disease
-
Gan K-H, Veeze HJ, Van den Ouweland, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995, 333:95-99.
-
(1995)
N Engl J Med
, vol.333
, pp. 95-99
-
-
Gan, K.-H.1
Veeze, H.J.2
Van den Ouweland3
-
99
-
-
0031456275
-
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
-
De Braekeleer M, Allard C, Leblanc J-P, et al. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Hum Genet 1997, 101:208-211.
-
(1997)
Hum Genet
, vol.101
, pp. 208-211
-
-
De Braekeleer, M.1
Allard, C.2
Leblanc, J.-P.3
-
100
-
-
0035122157
-
European Epidemiologic Registry of Cystic Fibrosis (ERCF). Comparison of major disease manifestations between patients with different classes of mutations
-
Koch C, Cuppens H, Rainisio M, et al. European Epidemiologic Registry of Cystic Fibrosis (ERCF). Comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol 2001, 31:1-12.
-
(2001)
Pediatr Pulmonol
, vol.31
, pp. 1-12
-
-
Koch, C.1
Cuppens, H.2
Rainisio, M.3
-
101
-
-
0027431921
-
Genotype analysis of adult cystic fibrosis patients
-
Ferec C, Verlingue C, Guillermit H, et al. Genotype analysis of adult cystic fibrosis patients. Hum Mol Genet 1993, 2:1557-1560.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1557-1560
-
-
Ferec, C.1
Verlingue, C.2
Guillermit, H.3
-
102
-
-
0029126565
-
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients. Detection of 90% of molecular defects and identification of three novel mutations
-
Brancolini V, Cremonesi L, Belloni E, et al. Search for mutations in pancreatic sufficient cystic fibrosis Italian patients. Detection of 90% of molecular defects and identification of three novel mutations. Hum Genet 1995, 96:312-318.
-
(1995)
Hum Genet
, vol.96
, pp. 312-318
-
-
Brancolini, V.1
Cremonesi, L.2
Belloni, E.3
-
103
-
-
0037086383
-
Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children
-
Lebecque P, Leal T, De Boeck C, et al. Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med 2002, 165:757-761.
-
(2002)
Am J Respir Crit Care Med
, vol.165
, pp. 757-761
-
-
Lebecque, P.1
Leal, T.2
De Boeck, C.3
-
104
-
-
1842603903
-
CFTR genotypes in patients with normal or borderline sweat chloride levels
-
Feldmann D, Coudere R, Audrezet MP, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003, 22:340.
-
(2003)
Hum Mutat
, vol.22
, pp. 340
-
-
Feldmann, D.1
Coudere, R.2
Audrezet, M.P.3
-
105
-
-
0038663174
-
Effect of genotype on phenotype and mortality in cystic fibrosis. A retrospective cohort study
-
McKone EF, Emerson SS, Edwards KL, Aitken ML Effect of genotype on phenotype and mortality in cystic fibrosis. A retrospective cohort study. Lancet 2003, 361:1671-1676.
-
(2003)
Lancet
, vol.361
, pp. 1671-1676
-
-
McKone, E.F.1
Emerson, S.S.2
Edwards, K.L.3
Aitken, M.L.4
-
106
-
-
0026725724
-
Cystic fibrosis patients bearing the common missense mutation Gly→Asp at codon 551 and the ΔF508 are indistinguishable from ΔF508 homozygotes except for decreased risk of meconium ileus
-
Hamosh A, King TM, Rosenstein BJ, et al. Cystic fibrosis patients bearing the common missense mutation Gly→Asp at codon 551 and the ΔF508 are indistinguishable from ΔF508 homozygotes except for decreased risk of meconium ileus. Am J Hum Genet 1992, 51:245-250.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 245-250
-
-
Hamosh, A.1
King, T.M.2
Rosenstein, B.J.3
-
107
-
-
0037541060
-
An automated approach to quantitative air trapping measurements in mild cystic fibrosis
-
Goris ML, Zhu HJ, Blankenberg F, et al. An automated approach to quantitative air trapping measurements in mild cystic fibrosis. Chest 2003, 123:1655-1663.
-
(2003)
Chest
, vol.123
, pp. 1655-1663
-
-
Goris, M.L.1
Zhu, H.J.2
Blankenberg, F.3
-
108
-
-
0037302159
-
Contemporary management of rhinosinusitis and cystic fibrosis
-
Tandon R, Derkay C Contemporary management of rhinosinusitis and cystic fibrosis. Curr Opin Otolaryngol Head Neck Surg 2003, 11:41-44.
-
(2003)
Curr Opin Otolaryngol Head Neck Surg
, vol.11
, pp. 41-44
-
-
Tandon, R.1
Derkay, C.2
-
109
-
-
0028015883
-
Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation
-
Konstan MW, Hilliard KA, Norvell TM, Berger M Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation. Am J Respir Crit Care Med 1994, 150:448-454.
-
(1994)
Am J Respir Crit Care Med
, vol.150
, pp. 448-454
-
-
Konstan, M.W.1
Hilliard, K.A.2
Norvell, T.M.3
Berger, M.4
-
110
-
-
0028914085
-
Early pulmonary inflammation in infants with cystic fibrosis
-
Khan TZ, Wagner JS, Bost T, et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med 1995, 151:1075-1082.
-
(1995)
Am J Respir Crit Care Med
, vol.151
, pp. 1075-1082
-
-
Khan, T.Z.1
Wagner, J.S.2
Bost, T.3
-
111
-
-
0030768159
-
Lower airway inflammation in infants and young children with cystic fibrosis
-
Armstrong DS, Grimwood K, Carlin JB, et al. Lower airway inflammation in infants and young children with cystic fibrosis. Am J Respir Crit Care Med 1997, 156:1197-1204.
-
(1997)
Am J Respir Crit Care Med
, vol.156
, pp. 1197-1204
-
-
Armstrong, D.S.1
Grimwood, K.2
Carlin, J.B.3
-
112
-
-
3343023861
-
Early intervention and prevention of lung disease in cystic fibrosis. A European consensus
-
Doring G, Hoiby N Early intervention and prevention of lung disease in cystic fibrosis. A European consensus. J Cyst Fibros 2004, 3:67-91.
-
(2004)
J Cyst Fibros
, vol.3
, pp. 67-91
-
-
Doring, G.1
Hoiby, N.2
-
113
-
-
1642556721
-
Infection control in cystic fibrosis
-
Saiman L, Siegel J Infection control in cystic fibrosis. Clin Microbiol Rev 2004, 17:57-71.
-
(2004)
Clin Microbiol Rev
, vol.17
, pp. 57-71
-
-
Saiman, L.1
Siegel, J.2
-
114
-
-
0014411090
-
Reproductive failure in males with cystic fibrosis
-
Kaplan E, Schwachman H, Perlmutter AD, et al. Reproductive failure in males with cystic fibrosis. N Engl J Med 1968, 279:65-69.
-
(1968)
N Engl J Med
, vol.279
, pp. 65-69
-
-
Kaplan, E.1
Schwachman, H.2
Perlmutter, A.D.3
-
115
-
-
16044362187
-
Diversity of reproductive tract abnormalities in men with cystic fibrosis
-
Wilschanski M, Corey M, Durie P, et al. Diversity of reproductive tract abnormalities in men with cystic fibrosis. JAMA 1996, 276:607-608.
-
(1996)
JAMA
, vol.276
, pp. 607-608
-
-
Wilschanski, M.1
Corey, M.2
Durie, P.3
-
116
-
-
84882533042
-
-
McKusick VA: Online Mendelian Inheritance in Man [abstract]. Johns Hopkins Institute for Genetic Medicine, Johns Hopkins University. Available at
-
McKusick VA: Online Mendelian Inheritance in Man [abstract]. Johns Hopkins Institute for Genetic Medicine, Johns Hopkins University. Available at. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM.
-
-
-
-
117
-
-
0026562867
-
Congenital bilateral absence of the vas deferens-a primarily genital form of cystic fibrosis
-
Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens-a primarily genital form of cystic fibrosis. JAMA 1992, 267:1794-1797.
-
(1992)
JAMA
, vol.267
, pp. 1794-1797
-
-
Anguiano, A.1
Oates, R.D.2
Amos, J.A.3
-
118
-
-
0033860259
-
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
-
Claustres M, Guittard C, Bozon D, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156.
-
(2000)
Hum Mutat
, vol.16
, pp. 143-156
-
-
Claustres, M.1
Guittard, C.2
Bozon, D.3
-
119
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillón M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillón, M.1
Casals, T.2
Mercier, B.3
-
120
-
-
0027521663
-
A mutation in the cystic fibrosis transmembrane conductance regulator gene produces different pheno-types depending on chromosomal background
-
Kiesewetter S, Macek M, Davis C, et al. A mutation in the cystic fibrosis transmembrane conductance regulator gene produces different pheno-types depending on chromosomal background. Nat Genet 1993, 5:274-278.
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
Macek, M.2
Davis, C.3
-
121
-
-
0032480346
-
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
-
Cohn JA, Friedman KJ, Noone PG, et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998, 339:653-658.
-
(1998)
N Engl J Med
, vol.339
, pp. 653-658
-
-
Cohn, J.A.1
Friedman, K.J.2
Noone, P.G.3
-
122
-
-
19144366332
-
Cystic fibrosis heterozygote screening in 5,161 pregnant women
-
Witt DR, Hallam P, Wi S, et al. Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 1996, 58:823-835.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 823-835
-
-
Witt, D.R.1
Hallam, P.2
Wi, S.3
-
123
-
-
0001752544
-
Cystic fibrosis
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly (Eds.)
-
Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR Cystic fibrosis. The Metabolic and Molecular Bases of Inherited Disease 2001, 5121-5188. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, D. Valle, W.S. Sly (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5121-5188
-
-
Welsh, M.J.1
Ramsey, B.W.2
Accurso, F.J.3
Cutting, G.R.4
-
124
-
-
0017833557
-
Sweat electrolytes in chronic pancreatitis
-
Bank S, Marks IN, Novis B Sweat electrolytes in chronic pancreatitis. Am J Dig Dis 1978, 23:178-181.
-
(1978)
Am J Dig Dis
, vol.23
, pp. 178-181
-
-
Bank, S.1
Marks, I.N.2
Novis, B.3
-
125
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer NS, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998, 339:645-652.
-
(1998)
N Engl J Med
, vol.339
, pp. 645-652
-
-
Sharer, N.S.1
Schwarz, M.2
Malone, G.3
-
126
-
-
0035213536
-
Cystic fibrosis gene mutations and pancreatitis risk. Relation to epithelial ion transport and trypsin inhibitor gene mutations
-
Noone PG, Zhou Z, Silverman LM, et al. Cystic fibrosis gene mutations and pancreatitis risk. Relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001, 121:1310-1319.
-
(2001)
Gastroenterology
, vol.121
, pp. 1310-1319
-
-
Noone, P.G.1
Zhou, Z.2
Silverman, L.M.3
-
127
-
-
85047700382
-
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis
-
Audrezet MP, Chen JM, Le Marechal C, et al. Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet 2002, 10:100-106.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 100-106
-
-
Audrezet, M.P.1
Chen, J.M.2
Le Marechal, C.3
-
128
-
-
3843141733
-
Risk of pancreatitis with mutation of the cystic fibrosis gene
-
Choudari CP, Imperiale TF, Sherman S, et al. Risk of pancreatitis with mutation of the cystic fibrosis gene. Am J Gastroenterol 2004, 99:1358-1363.
-
(2004)
Am J Gastroenterol
, vol.99
, pp. 1358-1363
-
-
Choudari, C.P.1
Imperiale, T.F.2
Sherman, S.3
-
129
-
-
0036844738
-
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients
-
Gaia E, Salacone P, Gallo M, et al. Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. Dig Dis Sci 2002, 47:2416-2421.
-
(2002)
Dig Dis Sci
, vol.47
, pp. 2416-2421
-
-
Gaia, E.1
Salacone, P.2
Gallo, M.3
-
130
-
-
81355156452
-
Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer
-
Malats N, Casals T, Porta M, et al. Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. Gut 2001, 48:70-74.
-
(2001)
Gut
, vol.48
, pp. 70-74
-
-
Malats, N.1
Casals, T.2
Porta, M.3
-
131
-
-
0141590214
-
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis
-
Perri F, Piepoli A, Stanziale P, et al. Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis. Eur J Hum Genet 2003, 11:687-692.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 687-692
-
-
Perri, F.1
Piepoli, A.2
Stanziale, P.3
-
132
-
-
0031721049
-
Nasal potential difference in congenital bilateral absence of the vas deferens
-
Pradal U, Castellani C, Delmarco A, Mastella G Nasal potential difference in congenital bilateral absence of the vas deferens. Am J Respir Crit Care Med 1998, 158:896-901.
-
(1998)
Am J Respir Crit Care Med
, vol.158
, pp. 896-901
-
-
Pradal, U.1
Castellani, C.2
Delmarco, A.3
Mastella, G.4
-
133
-
-
0033404141
-
Evidence of mild respiratory disease in men with congenital absence of the vas deferens
-
Castellani C, Bonizzato A, Pradal U, et al. Evidence of mild respiratory disease in men with congenital absence of the vas deferens. Respir Med 1999, 93:869-875.
-
(1999)
Respir Med
, vol.93
, pp. 869-875
-
-
Castellani, C.1
Bonizzato, A.2
Pradal, U.3
-
134
-
-
0036357890
-
Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis
-
Raman V, Clary R, Siegrist KL, et al. Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. Pediatrics 2002, 109:E13.
-
(2002)
Pediatrics
, vol.109
-
-
Raman, V.1
Clary, R.2
Siegrist, K.L.3
-
135
-
-
2442419155
-
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia
-
Coste A, Girodon E, Louis S, et al. Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia. Laryngoscope 2004, 114:839-843.
-
(2004)
Laryngoscope
, vol.114
, pp. 839-843
-
-
Coste, A.1
Girodon, E.2
Louis, S.3
-
136
-
-
0035694006
-
Cystic fibrosis gene mutations ΔF508 and 394delTT in patients with chronic sinusitis in Finland
-
Hytonen M, Patjas M, Vento SI, et al. Cystic fibrosis gene mutations ΔF508 and 394delTT in patients with chronic sinusitis in Finland. Acta Otolaryngol 2001, 121:945-947.
-
(2001)
Acta Otolaryngol
, vol.121
, pp. 945-947
-
-
Hytonen, M.1
Patjas, M.2
Vento, S.I.3
-
137
-
-
14844282314
-
Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation
-
Wang XJ, Kim J, McWilliams R, Cutting GR Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Arch Otolaryngol Head Neck Surg 2005, 131:237-240.
-
(2005)
Arch Otolaryngol Head Neck Surg
, vol.131
, pp. 237-240
-
-
Wang, X.J.1
Kim, J.2
McWilliams, R.3
Cutting, G.R.4
-
138
-
-
0028944377
-
Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression
-
Cheng SH, Fang SL, Zabner J, et al. Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression. Am J Physiol 1995, 268:L615-L624.
-
(1995)
Am J Physiol
, vol.268
-
-
Cheng, S.H.1
Fang, S.L.2
Zabner, J.3
-
139
-
-
0032401771
-
Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome
-
Loo MA, Jensen TJ, Cui L, et al. Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome. EMBO J 1998, 17:6879-6887.
-
(1998)
EMBO J
, vol.17
, pp. 6879-6887
-
-
Loo, M.A.1
Jensen, T.J.2
Cui, L.3
-
140
-
-
0028840915
-
Degradation of CFTR by the ubiquitin-proteasome pathway
-
Ward CL, Omura S, Kopito RR Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 1995, 83:121-127.
-
(1995)
Cell
, vol.83
, pp. 121-127
-
-
Ward, C.L.1
Omura, S.2
Kopito, R.R.3
-
141
-
-
0032867811
-
Processing of CFTR bearing the P574H mutation differs from wild-type and ΔF508-CFTR
-
Ostedgaard LS, Zeiher B, Welsh MJ processing of CFTR bearing the P574H mutation differs from wild-type and ΔF508-CFTR. J Cell Sci 1999, 112:2091-2098.
-
(1999)
J Cell Sci
, vol.112
, pp. 2091-2098
-
-
Ostedgaard, L.S.1
Zeiher, B.2
Welsh, M.J.3
-
142
-
-
0033779665
-
Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy
-
Choo-Kang LR, Zeitlin PL Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy. Curr Opin Pulm Med 2000, 6:521-529.
-
(2000)
Curr Opin Pulm Med
, vol.6
, pp. 521-529
-
-
Choo-Kang, L.R.1
Zeitlin, P.L.2
-
143
-
-
0027483610
-
The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR
-
Li C, Ramjeesingh M, Reyes E, et al. The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR. Nat Genet 1993, 3:311-316.
-
(1993)
Nat Genet
, vol.3
, pp. 311-316
-
-
Li, C.1
Ramjeesingh, M.2
Reyes, E.3
-
144
-
-
0028977988
-
- channel is functional when retained in endoplasmic reticulum of mammalian cells
-
- channel is functional when retained in endoplasmic reticulum of mammalian cells. J Biol Chem 1995, 270:12347-12350.
-
(1995)
J Biol Chem
, vol.270
, pp. 12347-12350
-
-
Pasyk, E.A.1
Foskett, J.K.2
-
145
-
-
0031889082
-
A pilot clinical trial of sodium 4-phenylbutyrate (Buphenyl) in ΔF508-homozygous cystic fibrosis patients. Evidence of restoration of nasal epithelial CFTR function
-
Rubenstein RC, Zeitlin PL A pilot clinical trial of sodium 4-phenylbutyrate (Buphenyl) in ΔF508-homozygous cystic fibrosis patients. Evidence of restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 1998, 157:484-490.
-
(1998)
Am J Respir Crit Care Med
, vol.157
, pp. 484-490
-
-
Rubenstein, R.C.1
Zeitlin, P.L.2
-
146
-
-
0036665609
-
Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate
-
Zeitlin PL, Diener-West M, Rubenstein RC, et al. Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. Mol Ther 2002, 6:119-126.
-
(2002)
Mol Ther
, vol.6
, pp. 119-126
-
-
Zeitlin, P.L.1
Diener-West, M.2
Rubenstein, R.C.3
-
147
-
-
11144355340
-
Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects
-
Egan ME, Pearson M, Weiner SA, et al. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 2004, 304:600-602.
-
(2004)
Science
, vol.304
, pp. 600-602
-
-
Egan, M.E.1
Pearson, M.2
Weiner, S.A.3
-
148
-
-
0000503027
-
A controlled trial of gentamicin to suppress premature stop codons in CF patients [abstract]
-
Clancy JP, Bebok Z, Jones J, et al. A controlled trial of gentamicin to suppress premature stop codons in CF patients [abstract]. Pediatr Pulmonol 1999, 239-240.
-
(1999)
Pediatr Pulmonol
, pp. 239-240
-
-
Clancy, J.P.1
Bebok, Z.2
Jones, J.3
-
149
-
-
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, 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 2000, 161:860-865.
-
(2000)
Am J Respir Crit Care Med
, vol.161
, pp. 860-865
-
-
Wilschanski, M.1
Famini, C.2
Blau, H.3
-
150
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003, 349:1433-1441.
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
-
151
-
-
0344973258
-
Effects of genistein on disease-causing mutant CFTRs [abstract]
-
Fischer H, Illek B Effects of genistein on disease-causing mutant CFTRs [abstract]. Pediatr Pulmonol 1998, S17:239.
-
(1998)
Pediatr Pulmonol
, vol.S17
, pp. 239
-
-
Fischer, H.1
Illek, B.2
-
152
-
-
0010994818
-
Genistein stimulates chloride secretion in normal volunteers and CF patients with a G551D mutation [abstract]
-
Gondor M, Nixon PA, Devor DC, et al. Genistein stimulates chloride secretion in normal volunteers and CF patients with a G551D mutation [abstract]. Pediatr Pulmonol 1998, S17:253.
-
(1998)
Pediatr Pulmonol
, vol.S17
, pp. 253
-
-
Gondor, M.1
Nixon, P.A.2
Devor, D.C.3
-
154
-
-
0028928015
-
CAMP-independent activation of CFTR Cl channels by the tyrosine kinase inhibitor genistein
-
Illek B, Fischer H, Santos GF, et al. cAMP-independent activation of CFTR Cl channels by the tyrosine kinase inhibitor genistein. Am J Physiol 1995, 268:C886-C893.
-
(1995)
Am J Physiol
, vol.268
-
-
Illek, B.1
Fischer, H.2
Santos, G.F.3
-
155
-
-
0031718588
-
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations
-
v
-
Mickle JE, Cutting GR Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin Chest Med 1998, 19:443-458. v.
-
(1998)
Clin Chest Med
, vol.19
, pp. 443-458
-
-
Mickle, J.E.1
Cutting, G.R.2
-
156
-
-
0033618404
-
C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation
-
Haardt M, Benharouga M, Lechardeur D, et al. C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation. J Biol Chem 1999, 274:21873-21877.
-
(1999)
J Biol Chem
, vol.274
, pp. 21873-21877
-
-
Haardt, M.1
Benharouga, M.2
Lechardeur, D.3
-
157
-
-
0034779927
-
A phase I study of aerosolized administration of tgAAVCF to cystic fibrosis subjects with mild lung disease
-
Aitken ML, Moss RB, Waltz DA, et al. A phase I study of aerosolized administration of tgAAVCF to cystic fibrosis subjects with mild lung disease. Hum Gene Ther 2001, 12:1907-1916.
-
(2001)
Hum Gene Ther
, vol.12
, pp. 1907-1916
-
-
Aitken, M.L.1
Moss, R.B.2
Waltz, D.A.3
-
158
-
-
0038488551
-
Phase I trial of intranasal and endobronchial administration of a recombinant adeno-associated virus serotype 2 (rAAV2)-CFTR vector in adult cystic fibrosis patients. A two-part clinical study
-
Flotte TR, Zeitlin PL, Reynolds TC, et al. Phase I trial of intranasal and endobronchial administration of a recombinant adeno-associated virus serotype 2 (rAAV2)-CFTR vector in adult cystic fibrosis patients. A two-part clinical study. Hum Gene Ther 2003, 14:1079-1088.
-
(2003)
Hum Gene Ther
, vol.14
, pp. 1079-1088
-
-
Flotte, T.R.1
Zeitlin, P.L.2
Reynolds, T.C.3
-
159
-
-
10744227749
-
Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis. A multicenter, double-blind, placebo-controlled trial
-
Moss RB, Rodman D, Spencer LT, et al. Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis. A multicenter, double-blind, placebo-controlled trial. Chest 2004, 125:509-521.
-
(2004)
Chest
, vol.125
, pp. 509-521
-
-
Moss, R.B.1
Rodman, D.2
Spencer, L.T.3
-
160
-
-
19944398726
-
Compacted DNA nanoparticles administered to the nasal mucosa of cystic fibrosis subjects are safe and demonstrate partial to complete cystic fibrosis transmembrane regulator reconstitution
-
Konstan MW, Davis PB, Wagener JS, et al. Compacted DNA nanoparticles administered to the nasal mucosa of cystic fibrosis subjects are safe and demonstrate partial to complete cystic fibrosis transmembrane regulator reconstitution. Hum Gene Ther 2004, 15:1255-1269.
-
(2004)
Hum Gene Ther
, vol.15
, pp. 1255-1269
-
-
Konstan, M.W.1
Davis, P.B.2
Wagener, J.S.3
|