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In vitro analysis of aminoglycoside therapy for the Arg 120stop nonsense mutation in RP2 patients
被引:29
作者
:
Grayson, C
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Grayson, C
Chapple, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Chapple, JP
Willison, KR
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Willison, KR
Webster, AR
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Webster, AR
Hardcastle, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Hardcastle, AJ
Cheetham, ME
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Cheetham, ME
机构
:
[1]
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
[2]
Inst Canc Res, Chester Beatty Labs, London SW3 6JB, England
[3]
UCL, Inst Ophthalmol, Dept Mol Genet, London, England
来源
:
JOURNAL OF MEDICAL GENETICS
|
2002年
/ 39卷
/ 01期
关键词
:
D O I
:
10.1136/jmg.39.1.62
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:62 / 67
页数:6
相关论文
共 31 条
[1]
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
[J].
Barton-Davis, ER
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Barton-Davis, ER
;
Cordier, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Cordier, L
;
Shoturma, DI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Shoturma, DI
;
Leland, SE
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Leland, SE
;
Sweeney, HL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Sweeney, HL
.
JOURNAL OF CLINICAL INVESTIGATION,
1999,
104
(04)
:375
-381
[2]
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
[J].
Bedwell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bedwell, DM
;
Kaenjak, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Kaenjak, A
;
Benos, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Benos, DJ
;
Bebok, Z
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bebok, Z
;
Bubien, JK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bubien, JK
;
Hong, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Hong, J
;
Tousson, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Tousson, A
;
Clancy, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Clancy, JP
;
Sorscher, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Sorscher, EJ
.
NATURE MEDICINE,
1997,
3
(11)
:1280
-1284
[3]
X-LINKED RETINITIS PIGMENTOSA
[J].
BIRD, AC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND
UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND
BIRD, AC
.
BRITISH JOURNAL OF OPHTHALMOLOGY,
1975,
59
(04)
:177
-199
[4]
AMINOGLYCOSIDE TOXICITY - A SURVEY OF RETINAL SPECIALISTS - IMPLICATIONS FOR OCULAR USE
[J].
CAMPOCHIARO, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Ophthalmology, University of Virginia Health Sciences Center, Charlottesville
CAMPOCHIARO, PA
;
CONWAY, BP
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Ophthalmology, University of Virginia Health Sciences Center, Charlottesville
CONWAY, BP
.
ARCHIVES OF OPHTHALMOLOGY,
1991,
109
(07)
:946
-950
[5]
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
[J].
Chapple, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Chapple, JP
;
Hardcastle, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Hardcastle, AJ
;
Grayson, C
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Grayson, C
;
Spackman, LA
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Spackman, LA
;
Willison, KR
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Willison, KR
;
Cheetham, ME
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Cheetham, ME
.
HUMAN MOLECULAR GENETICS,
2000,
9
(13)
:1919
-1926
[6]
GENTAMICIN TOXICITY IN THE PRIMATE RETINA
[J].
CONWAY, BP
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
CONWAY, BP
;
TABATABAY, CA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
TABATABAY, CA
;
CAMPOCHIARO, PA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
CAMPOCHIARO, PA
;
DAMICO, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
DAMICO, DJ
;
HANNINEN, LA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
HANNINEN, LA
;
KENYON, KR
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
KENYON, KR
.
ARCHIVES OF OPHTHALMOLOGY,
1989,
107
(01)
:107
-112
[7]
Grentzmann G, 1998, RNA, V4, P479
[8]
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
[J].
Hardcastle, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Hardcastle, AJ
;
Thiselton, DL
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Thiselton, DL
;
Van Maldergem, L
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Van Maldergem, L
;
Saha, BK
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Saha, BK
;
Jay, M
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Jay, M
;
Plant, C
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Plant, C
;
Taylor, R
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Taylor, R
;
Bird, AC
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Bird, AC
;
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Bhattacharya, S
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
64
(04)
:1210
-1215
[9]
A perfect message: RNA surveillance and nonsense-mediated decay
[J].
Hentze, MW
论文数:
0
引用数:
0
h-index:
0
机构:
European Mol Biol Lab, Gene Express Programme, D-69117 Heidelberg, Germany
Hentze, MW
;
Kulozik, AE
论文数:
0
引用数:
0
h-index:
0
机构:
European Mol Biol Lab, Gene Express Programme, D-69117 Heidelberg, Germany
Kulozik, AE
.
CELL,
1999,
96
(03)
:307
-310
[10]
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
[J].
Howard, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Howard, M
;
Frizzell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Frizzell, DM
;
Bedwell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Bedwell, DM
.
NATURE MEDICINE,
1996,
2
(04)
:467
-469
←
1
2
3
4
→
共 31 条
[1]
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
[J].
Barton-Davis, ER
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Barton-Davis, ER
;
Cordier, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Cordier, L
;
Shoturma, DI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Shoturma, DI
;
Leland, SE
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Leland, SE
;
Sweeney, HL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Sweeney, HL
.
JOURNAL OF CLINICAL INVESTIGATION,
1999,
104
(04)
:375
-381
[2]
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
[J].
Bedwell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bedwell, DM
;
Kaenjak, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Kaenjak, A
;
Benos, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Benos, DJ
;
Bebok, Z
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bebok, Z
;
Bubien, JK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Bubien, JK
;
Hong, J
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Hong, J
;
Tousson, A
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Tousson, A
;
Clancy, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Clancy, JP
;
Sorscher, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT PHYSIOL & BIOPHYS,BIRMINGHAM,AL 35294
Sorscher, EJ
.
NATURE MEDICINE,
1997,
3
(11)
:1280
-1284
[3]
X-LINKED RETINITIS PIGMENTOSA
[J].
BIRD, AC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND
UNIV LONDON,INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON,ENGLAND
BIRD, AC
.
BRITISH JOURNAL OF OPHTHALMOLOGY,
1975,
59
(04)
:177
-199
[4]
AMINOGLYCOSIDE TOXICITY - A SURVEY OF RETINAL SPECIALISTS - IMPLICATIONS FOR OCULAR USE
[J].
CAMPOCHIARO, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Ophthalmology, University of Virginia Health Sciences Center, Charlottesville
CAMPOCHIARO, PA
;
CONWAY, BP
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Ophthalmology, University of Virginia Health Sciences Center, Charlottesville
CONWAY, BP
.
ARCHIVES OF OPHTHALMOLOGY,
1991,
109
(07)
:946
-950
[5]
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
[J].
Chapple, JP
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Chapple, JP
;
Hardcastle, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Hardcastle, AJ
;
Grayson, C
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Grayson, C
;
Spackman, LA
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Spackman, LA
;
Willison, KR
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Willison, KR
;
Cheetham, ME
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Pathol, London EC1V 9EL, England
Cheetham, ME
.
HUMAN MOLECULAR GENETICS,
2000,
9
(13)
:1919
-1926
[6]
GENTAMICIN TOXICITY IN THE PRIMATE RETINA
[J].
CONWAY, BP
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
CONWAY, BP
;
TABATABAY, CA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
TABATABAY, CA
;
CAMPOCHIARO, PA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
CAMPOCHIARO, PA
;
DAMICO, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
DAMICO, DJ
;
HANNINEN, LA
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
HANNINEN, LA
;
KENYON, KR
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS EYE & EAR INFIRM,HOWE LAB OPHTHALMOL,BOSTON,MA 02114
KENYON, KR
.
ARCHIVES OF OPHTHALMOLOGY,
1989,
107
(01)
:107
-112
[7]
Grentzmann G, 1998, RNA, V4, P479
[8]
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study
[J].
Hardcastle, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Hardcastle, AJ
;
Thiselton, DL
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Thiselton, DL
;
Van Maldergem, L
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Van Maldergem, L
;
Saha, BK
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Saha, BK
;
Jay, M
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Jay, M
;
Plant, C
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Plant, C
;
Taylor, R
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Taylor, R
;
Bird, AC
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Bird, AC
;
Bhattacharya, S
论文数:
0
引用数:
0
h-index:
0
机构:
UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
Bhattacharya, S
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
64
(04)
:1210
-1215
[9]
A perfect message: RNA surveillance and nonsense-mediated decay
[J].
Hentze, MW
论文数:
0
引用数:
0
h-index:
0
机构:
European Mol Biol Lab, Gene Express Programme, D-69117 Heidelberg, Germany
Hentze, MW
;
Kulozik, AE
论文数:
0
引用数:
0
h-index:
0
机构:
European Mol Biol Lab, Gene Express Programme, D-69117 Heidelberg, Germany
Kulozik, AE
.
CELL,
1999,
96
(03)
:307
-310
[10]
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
[J].
Howard, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Howard, M
;
Frizzell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Frizzell, DM
;
Bedwell, DM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ALABAMA,DEPT MICROBIOL,BIRMINGHAM,AL 35294
Bedwell, DM
.
NATURE MEDICINE,
1996,
2
(04)
:467
-469
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