-
1
-
-
33846957381
-
Perspective on genes and mutations causing retinitis pigmentosa
-
Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007;125:151-158.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 151-158
-
-
Daiger, S.P.1
Bowne, S.J.2
Sullivan, L.S.3
-
2
-
-
0033399668
-
Molecular genetics of human retinal disease
-
Rattner A, Sun H, Nathans J. Molecular genetics of human retinal disease. Annu Rev Genet 1999;33:89-131.
-
(1999)
Annu Rev Genet
, vol.33
, pp. 89-131
-
-
Rattner, A.1
Sun, H.2
Nathans, J.3
-
3
-
-
0016491752
-
X-linked retinitis pigmentosa
-
Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975;59:177-199.
-
(1975)
Br J Ophthalmol
, vol.59
, pp. 177-199
-
-
Bird, A.C.1
-
4
-
-
18344391605
-
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
-
Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002;70:1545-1554.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1545-1554
-
-
Breuer, D.K.1
Yashar, B.M.2
Filippova, E.3
-
5
-
-
0034425755
-
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
-
Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000;25:462-466.
-
(2000)
Nat Genet
, vol.25
, pp. 462-466
-
-
Vervoort, R.1
Lennon, A.2
Bird, A.C.3
-
6
-
-
15644362762
-
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene
-
Jacobson SG, Buraczynska M, Milam AH, et al. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci 1997;38: 1983-1997.
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 1983-1997
-
-
Jacobson, S.G.1
Buraczynska, M.2
Milam, A.H.3
-
7
-
-
34047251141
-
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
-
Sandberg MA, Rosner B, Weigel-DiFranco C, et al. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci 2007;48:1298-1304.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 1298-1304
-
-
Sandberg, M.A.1
Rosner, B.2
Weigel-DiFranco, C.3
-
8
-
-
35748950724
-
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations
-
Aleman TS, Cideciyan AV, Sumaroka A, et al. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 2007;48:4759-4765.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 4759-4765
-
-
Aleman, T.S.1
Cideciyan, A.V.2
Sumaroka, A.3
-
9
-
-
0030756190
-
Phenotypes in three Swedish families with Xlinked retinitis pigmentosa caused by different mutations in the RPGR gene
-
Andreasson S, Ponjavic V, Abrahamson M, et al. Phenotypes in three Swedish families with Xlinked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol 1997;124:95-102.
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 95-102
-
-
Andreasson, S.1
Ponjavic, V.2
Abrahamson, M.3
-
10
-
-
0031468640
-
Xlinked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR
-
Weleber RG, Butler NS, Murphey WH, et al. Xlinked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol 1997;115:1429-1435.
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 1429-1435
-
-
Weleber, R.G.1
Butler, N.S.2
Murphey, W.H.3
-
11
-
-
0036846601
-
Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers
-
Hong DH, Li T. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthalmol Vis Sci 2002;43: 3373-3382.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 3373-3382
-
-
Hong, D.H.1
Li, T.2
-
12
-
-
0034724168
-
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
-
Hong DH, Pawlyk BS, Shang J, et al. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 2000;97:3649-3654.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3649-3654
-
-
Hong, D.H.1
Pawlyk, B.S.2
Shang, J.3
-
13
-
-
0032816282
-
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
-
Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 1999;8:1571-1578.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1571-1578
-
-
Kirschner, R.1
Rosenberg, T.2
Schultz-Heienbrok, R.3
-
14
-
-
0032584734
-
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
-
Yan D, Swain PK, Breuer D, et al. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem 1998;273:19656-19663.
-
(1998)
J Biol Chem
, vol.273
, pp. 19656-19663
-
-
Yan, D.1
Swain, P.K.2
Breuer, D.3
-
15
-
-
25844471118
-
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
-
Khanna H, Hurd TW, Lillo C, et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem 2005;280:33580-33587.
-
(2005)
J Biol Chem
, vol.280
, pp. 33580-33587
-
-
Khanna, H.1
Hurd, T.W.2
Lillo, C.3
-
16
-
-
20944451188
-
RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
-
Shu X, Fry AM, Tulloch B, et al. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet 2005;14:1183-1197.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1183-1197
-
-
Shu, X.1
Fry, A.M.2
Tulloch, B.3
-
17
-
-
84860487206
-
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
-
Thompson DA, Khan NW, Othman MI, et al. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS One 2012;7:e35865.
-
(2012)
PLoS One
, vol.7
, pp. e35865
-
-
Thompson, D.A.1
Khan, N.W.2
Othman, M.I.3
-
18
-
-
77449151188
-
Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds
-
Brunner S, Skosyrski S, Kirschner-Schwabe R, et al. Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Invest Ophthalmol Vis Sci 2010;51:1106-1115.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 1106-1115
-
-
Brunner, S.1
Skosyrski, S.2
Kirschner-Schwabe, R.3
-
19
-
-
0346096991
-
Dominant, gain-of-function mutant produced by truncation of RPGR
-
Hong DH, Pawlyk BS, Adamian M, et al. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci 2004;45:36-41.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 36-41
-
-
Hong, D.H.1
Pawlyk, B.S.2
Adamian, M.3
-
20
-
-
84867907906
-
RPGRassociated retinal degeneration in human X-linked RP and a murine model
-
Huang WC, Wright AF, Roman AJ, et al. RPGRassociated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci 2012;53:5594-5608.
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 5594-5608
-
-
Huang, W.C.1
Wright, A.F.2
Roman, A.J.3
-
21
-
-
0036565892
-
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
-
Zhang Q, Acland GM, Wu WX, et al. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 2002;11:993-1003.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 993-1003
-
-
Zhang, Q.1
Acland, G.M.2
Wu, W.X.3
-
22
-
-
84857129967
-
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
-
Beltran WA, Cideciyan AV, Lewin AS, et al. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci USA 2012;109:2132-2137.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 2132-2137
-
-
Beltran, W.A.1
Cideciyan, A.V.2
Lewin, A.S.3
-
23
-
-
34047218921
-
RPGR mutation analysis and disease: An update
-
Shu X, Black GC, Rice JM, et al. RPGR mutation analysis and disease: an update. Hum Mutat 2007;28:322-328.
-
(2007)
Hum Mutat
, vol.28
, pp. 322-328
-
-
Shu, X.1
Black, G.C.2
Rice, J.M.3
-
24
-
-
84936745091
-
A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration
-
[Epub ahead of print]
-
Wu Z, Hiriyanna S, Qian H, et al. A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Hum Mol Genet 2015 [Epub ahead of print].
-
(2015)
Hum Mol Genet
-
-
Wu, Z.1
Hiriyanna, S.2
Qian, H.3
-
25
-
-
0033022953
-
Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield
-
Zolotukhin S, Byrne BJ, Mason E, et al. Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Ther 1999;6:973-985.
-
(1999)
Gene Ther
, vol.6
, pp. 973-985
-
-
Zolotukhin, S.1
Byrne, B.J.2
Mason, E.3
-
26
-
-
32944473999
-
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
-
Pang JJ, Chang B, Kumar A, et al. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther 2006;13:565-572.
-
(2006)
Mol Ther
, vol.13
, pp. 565-572
-
-
Pang, J.J.1
Chang, B.2
Kumar, A.3
-
27
-
-
0030959261
-
Role for highly regulated rep gene expression in adeno-associated virus vector production
-
Li J, Samulski RJ, Xiao X. Role for highly regulated rep gene expression in adeno-associated virus vector production. J Virol 1997;71:5236-5243.
-
(1997)
J Virol
, vol.71
, pp. 5236-5243
-
-
Li, J.1
Samulski, R.J.2
Xiao, X.3
-
28
-
-
0015288898
-
Separation of two types of adeno-associated virus particles containing complementary polynucleotide chains
-
Berns KI, Adler S. Separation of two types of adeno-associated virus particles containing complementary polynucleotide chains. J Virol 1972; 9:394-396.
-
(1972)
J Virol
, vol.9
, pp. 394-396
-
-
Berns, K.I.1
Adler, S.2
-
29
-
-
0029923638
-
Secondstrand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors
-
Ferrari FK, Samulski T, Shenk T, et al. Secondstrand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J Virol 1996;70:3227-3234.
-
(1996)
J Virol
, vol.70
, pp. 3227-3234
-
-
Ferrari, F.K.1
Samulski, T.2
Shenk, T.3
-
30
-
-
0033814178
-
Recruitment of single-stranded recombinant adeno-associated virus vector genomes and intermolecular recombination are responsible for stable transduction of liver in vivo
-
Nakai H, Storm TA, Kay MA. Recruitment of single-stranded recombinant adeno-associated virus vector genomes and intermolecular recombination are responsible for stable transduction of liver in vivo. J Virol 2000;74:9451-9463.
-
(2000)
J Virol
, vol.74
, pp. 9451-9463
-
-
Nakai, H.1
Storm, T.A.2
Kay, M.A.3
-
31
-
-
38749123981
-
Retinitis pigmentosa GTPase regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked retinitis pigmentosa and associated ciliopathies
-
He S, Parapuram SK, Hurd TW, et al. Retinitis pigmentosa GTPase regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked retinitis pigmentosa and associated ciliopathies. Vis Res 2008;48:366-376.
-
(2008)
Vis Res
, vol.48
, pp. 366-376
-
-
He, S.1
Parapuram, S.K.2
Hurd, T.W.3
-
32
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
Pang JJ, Deng WT, Dai X, et al. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS One 2012;7:e35250.
-
(2012)
PLoS One
, vol.7
, pp. e35250
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
-
33
-
-
0035789070
-
Subretinal injections in rodent eyes: Effects on electrophysiology and histology of rat retina
-
Timmers AM, Zhang H, Squitieri A, et al. Subretinal injections in rodent eyes: effects on electrophysiology and histology of rat retina. Mol Vis 2001;7:131-137.
-
(2001)
Mol Vis
, vol.7
, pp. 131-137
-
-
Timmers, A.M.1
Zhang, H.2
Squitieri, A.3
-
34
-
-
0037378886
-
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
-
Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci 2003;44:1458-1463.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1458-1463
-
-
Bader, I.1
Brandau, O.2
Achatz, H.3
-
35
-
-
45849110349
-
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
-
Neidhardt J, Glaus E, Lorenz B, et al. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008;14:1081-1093.
-
(2008)
Mol Vis
, vol.14
, pp. 1081-1093
-
-
Neidhardt, J.1
Glaus, E.2
Lorenz, B.3
-
36
-
-
17344382165
-
Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa
-
Pusch CM, Broghammer M, Jurklies B, et al. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. Hum Mutat 2002; 20:405.
-
(2002)
Hum Mutat
, vol.20
, pp. 405
-
-
Pusch, C.M.1
Broghammer, M.2
Jurklies, B.3
-
37
-
-
0036247905
-
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
-
Rozet JM, Perrault I, Gigarel N, et al. Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. J Med Genet 2002;39:284-285.
-
(2002)
J Med Genet
, vol.39
, pp. 284-285
-
-
Rozet, J.M.1
Perrault, I.2
Gigarel, N.3
-
38
-
-
13944271325
-
A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo
-
Hong DH, Pawlyk BS, Adamian M, et al. A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci 2005;46:435-441.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 435-441
-
-
Hong, D.H.1
Pawlyk, B.S.2
Adamian, M.3
|