-
1
-
-
0035900647
-
When the message goes awry: disease-producing mutations that influence mRNA content and performance
-
Mendell J.T., and Dietz H.C. When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107 (2001) 411-414
-
(2001)
Cell
, vol.107
, pp. 411-414
-
-
Mendell, J.T.1
Dietz, H.C.2
-
3
-
-
33845992179
-
Evidence for airway surface dehydration as the initiating event in CF airway disease
-
Boucher R.C. Evidence for airway surface dehydration as the initiating event in CF airway disease. J Intern Med 261 (2007) 5-16
-
(2007)
J Intern Med
, vol.261
, pp. 5-16
-
-
Boucher, R.C.1
-
4
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
The Cystic Fibrosis Genetic Analysis Consortium
-
The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 4 (1994) 167-177
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
-
5
-
-
0026918861
-
Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis
-
Johnson L.G., Olsen J.C., Sarkadi B., Moore K.L., Swanstrom R., and Boucher R.C. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nat Genet 2 (1992) 21-25
-
(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
-
6
-
-
0029994529
-
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
-
Howard M., Frizzell R.A., and Bedwell D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2 (1996) 467-469
-
(1996)
Nat Med
, vol.2
, pp. 467-469
-
-
Howard, M.1
Frizzell, R.A.2
Bedwell, D.M.3
-
7
-
-
0034961464
-
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
-
Clancy J.P., Bebok Z., Ruiz F., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163 (2001) 1683-1692
-
(2001)
Am J Respir Crit Care Med
, vol.163
, pp. 1683-1692
-
-
Clancy, J.P.1
Bebok, Z.2
Ruiz, F.3
-
8
-
-
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 349 (2003) 1433-1441
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
-
10
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 9 (2000) 1787-1793
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
11
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch E.M., Barton E.R., Zhuo J., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447 (2007) 87-91
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
-
12
-
-
33947529670
-
Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
-
Hirawat S., Welch E.M., Elfring G.L., et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47 (2007) 430-444
-
(2007)
J Clin Pharmacol
, vol.47
, pp. 430-444
-
-
Hirawat, S.1
Welch, E.M.2
Elfring, G.L.3
-
13
-
-
50149098401
-
Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
-
10.1016/S0140-6736(08)61168-X published online Aug 21.
-
Kerem E., Hirawat S., Armoni S., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet (2008) 10.1016/S0140-6736(08)61168-X published online Aug 21.
-
(2008)
Lancet
-
-
Kerem, E.1
Hirawat, S.2
Armoni, S.3
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