-
2
-
-
0036992832
-
X-linked recessive atrophic macular degeneration from RPGR mutation
-
R. Ayyagari, F.Y. Demirci, J. Liu, E.L. Bingham, H. Stringham, L.E. Kakuk, M. Boehnke, M.B. Gorin, J.E. Richards, and P.A. Sieving X-linked recessive atrophic macular degeneration from RPGR mutation Genomics 80 2002 166 171
-
(2002)
Genomics
, vol.80
, pp. 166-171
-
-
Ayyagari, R.1
Demirci, F.Y.2
Liu, J.3
Bingham, E.L.4
Stringham, H.5
Kakuk, L.E.6
Boehnke, M.7
Gorin, M.B.8
Richards, J.E.9
Sieving, P.A.10
-
3
-
-
0028303798
-
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
-
R.G. Roberts, R.J. Gardner, and M. Bobrow Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations Hum. Mutat. 4 1994 1 11
-
(1994)
Hum. Mutat.
, vol.4
, pp. 1-11
-
-
Roberts, R.G.1
Gardner, R.J.2
Bobrow, M.3
-
4
-
-
0035196165
-
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
-
Y. Takeshima, H. Wada, M. Yagi, Y. Ishikawa, R. Minami, H. Nakamura, and M. Matsuo Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient Brain Dev. 23 2001 788 790
-
(2001)
Brain Dev.
, vol.23
, pp. 788-790
-
-
Takeshima, Y.1
Wada, H.2
Yagi, M.3
Ishikawa, Y.4
Minami, R.5
Nakamura, H.6
Matsuo, M.7
-
5
-
-
0035878539
-
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
-
J.C. van Deutekom, M. Bremmer-Bout, A.A. Janson, I.B. Ginjaar, F. Baas, J.T. den Dunnen, and G.J. van Ommen Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells Hum. Mol. Genet. 10 2001 1547 1554
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1547-1554
-
-
Van Deutekom, J.C.1
Bremmer-Bout, M.2
Janson, A.A.3
Ginjaar, I.B.4
Baas, F.5
Den Dunnen, J.T.6
Van Ommen, G.J.7
-
6
-
-
0035831649
-
In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement
-
R. Kapsa, A. Quigley, G.S. Lynch, K. Steeper, A.J. Kornberg, P. Gregorevic, L. Austin, and E. Byrne In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement Hum. Gene Ther. 12 2001 629 642
-
(2001)
Hum. Gene Ther.
, vol.12
, pp. 629-642
-
-
Kapsa, R.1
Quigley, A.2
Lynch, G.S.3
Steeper, K.4
Kornberg, A.J.5
Gregorevic, P.6
Austin, L.7
Byrne, E.8
-
8
-
-
0021318782
-
Fidelity of the eukaryotic codon-anticodon interaction: Interference by aminoglycoside antibiotics
-
D.C. Eustice, and J.M. Wilhelm Fidelity of the eukaryotic codon-anticodon interaction: interference by aminoglycoside antibiotics Biochemistry 23 1984 1462 1467
-
(1984)
Biochemistry
, vol.23
, pp. 1462-1467
-
-
Eustice, D.C.1
Wilhelm, J.M.2
-
9
-
-
0034602848
-
Modulation of RNA function by aminoglycoside antibiotics
-
R. Schroeder, C. Waldsich, and H. Wank Modulation of RNA function by aminoglycoside antibiotics EMBO J. 19 2000 1 9
-
(2000)
EMBO J.
, vol.19
, pp. 1-9
-
-
Schroeder, R.1
Waldsich, C.2
Wank, H.3
-
10
-
-
0036140409
-
Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3-secretion in cystic fibrosis bile ductular cells
-
A. Zsembery, W. Jessner, G. Sitter, C. Spirli, M. Strazzabosco, and J. Graf Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3-secretion in cystic fibrosis bile ductular cells Hepatology 35 2002 95 104
-
(2002)
Hepatology
, vol.35
, pp. 95-104
-
-
Zsembery, A.1
Jessner, W.2
Sitter, G.3
Spirli, C.4
Strazzabosco, M.5
Graf, J.6
-
11
-
-
0035253591
-
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-l-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
-
K.M. Keeling, D.A. Brooks, J.J. Hopwood, P. Li, J.N. Thompson, and D.M. Bedwell Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-l-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation Hum. Mol. Genet. 10 2001 291 299
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 291-299
-
-
Keeling, K.M.1
Brooks, D.A.2
Hopwood, J.J.3
Li, P.4
Thompson, J.N.5
Bedwell, D.M.6
-
12
-
-
0030702773
-
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
-
D.M. Bedwell, A. Kaenjak, D.J. Benos, Z. Bebok, J.K. Bubien, J. Hong, A. Tousson, J.P. Clancy, and E.J. Sorscher Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line Nat. Med. 3 1997 1280 1284
-
(1997)
Nat. Med.
, vol.3
, pp. 1280-1284
-
-
Bedwell, D.M.1
Kaenjak, A.2
Benos, D.J.3
Bebok, Z.4
Bubien, J.K.5
Hong, J.6
Tousson, A.7
Clancy, J.P.8
Sorscher, E.J.9
-
13
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
M. Wilschanski, Y. Yahav, Y. Yaacov, H. Blau, L. Bentur, J. Rivlin, M. Aviram, T. Bdolah-Abram, Z. Bebok, L. Shushi, B. Kerem, and E. Kerem 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
Blau, H.4
Bentur, L.5
Rivlin, J.6
Aviram, M.7
Bdolah-Abram, T.8
Bebok, Z.9
Shushi, L.10
Kerem, B.11
Kerem, E.12
-
14
-
-
0034961464
-
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
-
J.P. Clancy, Z. Bebok, F. Ruiz, C. King, J. Jones, L. Walker, H. Greer, J. Hong, L. Wing, M. Macaluso, R. Lyrene, E.J. Sorscher, and D.M. Bedwell 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
King, C.4
Jones, J.5
Walker, L.6
Greer, H.7
Hong, J.8
Wing, L.9
MacAluso, M.10
Lyrene, R.11
Sorscher, E.J.12
Bedwell, D.M.13
-
15
-
-
0043092426
-
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
-
L. Politano, G. Nigro, V. Nigro, G. Piluso, S. Papparella, O. Paciello, and L.I. Comi Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results Acta Myol. 22 2003 15 21
-
(2003)
Acta Myol.
, vol.22
, pp. 15-21
-
-
Politano, L.1
Nigro, G.2
Nigro, V.3
Piluso, G.4
Papparella, S.5
Paciello, O.6
Comi, L.I.7
-
16
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
K.R. Wagner, S. Hamed, D.W. Hadley, A.L. Gropman, A.H. Burstein, D.M. Escolar, E.P. Hoffman, and K.H. Fischbeck Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations Ann. Neurol. 49 2001 706 711
-
(2001)
Ann. Neurol.
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
Hamed, S.2
Hadley, D.W.3
Gropman, A.L.4
Burstein, A.H.5
Escolar, D.M.6
Hoffman, E.P.7
Fischbeck, K.H.8
-
17
-
-
0032721006
-
Correction of genetic disease by making sense from nonsense
-
R.J. Kaufman Correction of genetic disease by making sense from nonsense J. Clin. Invest. 104 1999 367 368
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 367-368
-
-
Kaufman, R.J.1
-
18
-
-
0023748145
-
Use of tRNA suppressors to probe regulation of Escherichia coli release factor 2
-
J.F. Curran, and M. Yarus Use of tRNA suppressors to probe regulation of Escherichia coli release factor 2 J. Mol. Biol. 203 1988 75 83
-
(1988)
J. Mol. Biol.
, vol.203
, pp. 75-83
-
-
Curran, J.F.1
Yarus, M.2
-
19
-
-
0037439231
-
Termination of translation: Interplay of mRNA, rRNAs and release factors?
-
L. Kisselev, M. Ehrenberg, and L. Frolova Termination of translation: interplay of mRNA, rRNAs and release factors? EMBO J 22 2003 175 182
-
(2003)
EMBO J
, vol.22
, pp. 175-182
-
-
Kisselev, L.1
Ehrenberg, M.2
Frolova, L.3
-
20
-
-
0037310005
-
Making sense of mimic in translation termination
-
Y. Nakamura, and K. Ito Making sense of mimic in translation termination Trends Biochem. Sci. 28 2003 99 105
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 99-105
-
-
Nakamura, Y.1
Ito, K.2
-
21
-
-
4644308292
-
Efficient stimulation of site-specific ribosome frameshifting by antisense oligonucleotides
-
M.T. Howard, R.F. Gestel, and J.F. Atkins Efficient stimulation of site-specific ribosome frameshifting by antisense oligonucleotides RNA 10 2004 1653 1661
-
(2004)
RNA
, vol.10
, pp. 1653-1661
-
-
Howard, M.T.1
Gestel, R.F.2
Atkins, J.F.3
-
22
-
-
0034894405
-
A novel stop codon readthrough mechanism produces functional Headcase protein in Drosophila trachea
-
P. Steneberg, and C. Samakovlis A novel stop codon readthrough mechanism produces functional Headcase protein in Drosophila trachea EMBO Rep. 2 2001 593 597
-
(2001)
EMBO Rep.
, vol.2
, pp. 593-597
-
-
Steneberg, P.1
Samakovlis, C.2
-
23
-
-
0025056534
-
A simple and sensitive in vivo luciferase assay for tRNA-mediated nonsense suppression
-
D.W. Schultz, and M. Yarus A simple and sensitive in vivo luciferase assay for tRNA-mediated nonsense suppression J. Bacteriol. 172 1990 595 602
-
(1990)
J. Bacteriol.
, vol.172
, pp. 595-602
-
-
Schultz, D.W.1
Yarus, M.2
-
25
-
-
0014186539
-
Mutants of Escherichia coli permeable to actinomycin
-
M. Sekiguchi, and S. Iida Mutants of Escherichia coli permeable to actinomycin Proc. Natl. Acad. Sci. U. S. A. 58 1967 2315 2320
-
(1967)
Proc. Natl. Acad. Sci. U. S. A.
, vol.58
, pp. 2315-2320
-
-
Sekiguchi, M.1
Iida, S.2
-
26
-
-
0035075441
-
Bactericidal antisense effects of peptide-PNA conjugates
-
L. Good, S.K. Awasthi, R. Dryselius, O. Larsson, and P.E. Nielsen Bactericidal antisense effects of peptide-PNA conjugates Nat. Biotechnol. 19 2001 360 364
-
(2001)
Nat. Biotechnol.
, vol.19
, pp. 360-364
-
-
Good, L.1
Awasthi, S.K.2
Dryselius, R.3
Larsson, O.4
Nielsen, P.E.5
-
28
-
-
0024379177
-
Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells
-
R. Martin, A.E. Mogg, L.A. Heywood, L. Nitschke, and J.F. Burke Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells Mol. Gen. Genet. 217 1989 411 418
-
(1989)
Mol. Gen. Genet.
, vol.217
, pp. 411-418
-
-
Martin, R.1
Mogg, A.E.2
Heywood, L.A.3
Nitschke, L.4
Burke, J.F.5
-
29
-
-
0033854425
-
Sequence specificity of aminoglycoside-induced stop condon readthrough: Potential implications for treatment of Duchenne muscular dystrophy
-
M.T. Howard, B.H. Shirts, L.M. Petros, K.M. Flanigan, R.F. Gestel, and J.F. Atkins Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy Ann. Neurol. 48 2000 164 169
-
(2000)
Ann. Neurol.
, vol.48
, pp. 164-169
-
-
Howard, M.T.1
Shirts, B.H.2
Petros, L.M.3
Flanigan, K.M.4
Gestel, R.F.5
Atkins, J.F.6
-
30
-
-
0033929810
-
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
-
M. Manuvakhova, K. Keeling, and D.M. Bedwell Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system RNA 6 2000 1044 1055
-
(2000)
RNA
, vol.6
, pp. 1044-1055
-
-
Manuvakhova, M.1
Keeling, K.2
Bedwell, D.M.3
-
31
-
-
0036384314
-
The protein synthesis inhibitors, oxazolidinones and chloramphenicol, cause extensive translational inaccuracy in vivo
-
J. Thompson, M. O'Connor, J.A. Mills, and A.E. Dahlberg The protein synthesis inhibitors, oxazolidinones and chloramphenicol, cause extensive translational inaccuracy in vivo J. Mol. Biol. 322 2002 273 279
-
(2002)
J. Mol. Biol.
, vol.322
, pp. 273-279
-
-
Thompson, J.1
O'Connor, M.2
Mills, J.A.3
Dahlberg, A.E.4
-
32
-
-
0038403669
-
Insights into the decoding mechanism from recent ribosome structures
-
J.M. Ogle, A.P. Carter, and V. Ramakrishnan Insights into the decoding mechanism from recent ribosome structures Trends Biochem. Sci. 28 2003 259 266
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 259-266
-
-
Ogle, J.M.1
Carter, A.P.2
Ramakrishnan, V.3
-
33
-
-
1842586020
-
Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment
-
L. Bidou, I. Hatin, N. Perez, V. Allamand, J.J. Panthier, and J.P. Rousset Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment Gene Ther. 119 2004 619 627
-
(2004)
Gene Ther.
, vol.119
, pp. 619-627
-
-
Bidou, L.1
Hatin, I.2
Perez, N.3
Allamand, V.4
Panthier, J.J.5
Rousset, J.P.6
-
34
-
-
0032246224
-
The analysis of translational activity using a reporter gene constructed from repeats of an antibody-binding domain from protein a
-
A. Bjornsson, S. Mottagui-Tabar, and L.A. Isaksson The analysis of translational activity using a reporter gene constructed from repeats of an antibody-binding domain from protein A Methods Mol. Biol. 77 1998 75 91
-
(1998)
Methods Mol. Biol.
, vol.77
, pp. 75-91
-
-
Bjornsson, A.1
Mottagui-Tabar, S.2
Isaksson, L.A.3
-
35
-
-
0035137890
-
Endless possibilities: Translation termination and stop codon recognition
-
G. Bertram, S. Innes, O. Minella, J. Richardson, and I. Stansfield Endless possibilities: translation termination and stop codon recognition Microbiology 147 2001 255 269
-
(2001)
Microbiology
, vol.147
, pp. 255-269
-
-
Bertram, G.1
Innes, S.2
Minella, O.3
Richardson, J.4
Stansfield, I.5
-
36
-
-
1342286071
-
The major 5′ determinant in stop codon read-through involves two adjacent adenines
-
S. Tork, I. Hatin, J.P. Rousset, and C. Fabret The major 5′ determinant in stop codon read-through involves two adjacent adenines Nucleic Acids Res. 32 2004 415 421
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 415-421
-
-
Tork, S.1
Hatin, I.2
Rousset, J.P.3
Fabret, C.4
-
37
-
-
15244343863
-
MRNA decay in prokaryotes and eukaryotes: Different approaches to a similar problem
-
S.R. Kushner mRNA decay in prokaryotes and eukaryotes: different approaches to a similar problem IUBMB Life 56 2004 585 594
-
(2004)
IUBMB Life
, vol.56
, pp. 585-594
-
-
Kushner, S.R.1
|