-
3
-
-
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
-
4
-
-
1542753557
-
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
-
Iannaccone A, Breuer DK, Wang XF, et al. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003;40:e118.
-
(2003)
J Med Genet
, vol.40
-
-
Iannaccone, A.1
Breuer, D.K.2
Wang, X.F.3
-
5
-
-
0036241436
-
Mutations of RPGR in X-linked retinitis pigmentosa (RP3)
-
Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat. 2002;19:486-500.
-
(2002)
Hum Mutat
, vol.19
, pp. 486-500
-
-
Vervoort, R.1
Wright, A.F.2
-
6
-
-
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
-
7
-
-
33845937443
-
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling
-
Pelletier V, Jambou M, Delphin N, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007;28:81-91.
-
(2007)
Hum Mutat
, vol.28
, pp. 81-91
-
-
Pelletier, V.1
Jambou, M.2
Delphin, N.3
-
8
-
-
0242522448
-
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
-
Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73: 1131-1146.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1131-1146
-
-
Sharon, D.1
Sandberg, M.A.2
Rabe, V.W.3
Stillberger, M.4
Dryja, T.P.5
Berson, E.L.6
-
9
-
-
42949171813
-
The human retinitis pigmentosa GTPase regulator gene variant database
-
Shu X, McDowall E, Brown AF, Wright AF. The human retinitis pigmentosa GTPase regulator gene variant database. Hum Mutat. 2008;29:605-608.
-
(2008)
Hum Mutat
, vol.29
, pp. 605-608
-
-
Shu, X.1
McDowall, E.2
Brown, A.F.3
Wright, A.F.4
-
10
-
-
33645765214
-
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
-
Moore A, Escudier E, Roger G, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet. 2006;43:326-333.
-
(2006)
J Med Genet
, vol.43
, pp. 326-333
-
-
Moore, A.1
Escudier, E.2
Roger, G.3
-
11
-
-
0042327823
-
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
-
Zito I, Downes SM, Patel RJ, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003;40:609-615.
-
(2003)
J Med Genet
, vol.40
, pp. 609-615
-
-
Zito, I.1
Downes, S.M.2
Patel, R.J.3
-
12
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35-42.
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
-
13
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1035-1041.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
van Duijnhoven, G.2
Rosenberg, T.3
-
14
-
-
0032816282
-
RPGR transcription studies in mouse and human tissues reveal a retinaspecific 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 retinaspecific 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
-
15
-
-
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
-
16
-
-
34548014309
-
Identification and characterization of a novel RPGR isoform in human retina
-
Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W. Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat. 2007;28:797-807.
-
(2007)
Hum Mutat
, vol.28
, pp. 797-807
-
-
Neidhardt, J.1
Glaus, E.2
Barthelmes, D.3
Zeitz, C.4
Fleischhauer, J.5
Berger, W.6
-
17
-
-
15844362841
-
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XlRP)
-
Roepman R, Bauer D, Rosenberg T, et al. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XlRP). Hum Mol Genet. 1996;5:827-833.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 827-833
-
-
Roepman, R.1
Bauer, D.2
Rosenberg, T.3
-
18
-
-
34548758543
-
Splicing in disease: Disruption of the splicing code and the decoding machinery
-
Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007;8:749-761.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
19
-
-
16944362660
-
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
-
Fujita R, Buraczynska M, Gieser L, et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet. 1997;61:571-580.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 571-580
-
-
Fujita, R.1
Buraczynska, M.2
Gieser, L.3
-
20
-
-
0031789543
-
Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene
-
Bauer S, Fujita R, Buraczynska M, et al. Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene. Invest Ophthalmol Vis Sci. 1998;39:2470-2474.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 2470-2474
-
-
Bauer, S.1
Fujita, R.2
Buraczynska, M.3
-
21
-
-
0032935356
-
Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)
-
Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF. Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Hum Mutat. 1999;13:141-145.
-
(1999)
Hum Mutat
, vol.13
, pp. 141-145
-
-
Dry, K.L.1
Manson, F.D.2
Lennon, A.3
Bergen, A.A.4
Van Dorp, D.B.5
Wright, A.F.6
-
22
-
-
4444375317
-
A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping
-
Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol. 2004;138:504-505.
-
(2004)
Am J Ophthalmol
, vol.138
, pp. 504-505
-
-
Demirci, F.Y.1
Radak, A.L.2
Rigatti, B.W.3
Mah, T.S.4
Gorin, M.B.5
-
23
-
-
10844220712
-
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia
-
Chatr-Aryamontri A, Angelini M, Garelli E, et al. Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. Hum Mutat. 2004;24:526-533.
-
(2004)
Hum Mutat
, vol.24
, pp. 526-533
-
-
Chatr-Aryamontri, A.1
Angelini, M.2
Garelli, E.3
-
24
-
-
33645999109
-
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes
-
Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci. 2006;47:1630-1635.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 1630-1635
-
-
Neidhardt, J.1
Barthelmes, D.2
Farahmand, F.3
Fleischhauer, J.C.4
Berger, W.5
-
25
-
-
0029330286
-
When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat LE. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA. 1995;1:453-465.
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
26
-
-
0034721644
-
Protein diversity from alternative splicing: A challenge for bioinformatics and post-genome biology
-
Black DL. Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology. Cell. 2000;103:367-370.
-
(2000)
Cell
, vol.103
, pp. 367-370
-
-
Black, D.L.1
-
27
-
-
0037062982
-
Alternative pre-mRNA splicing and proteome expansion in metazoans
-
Maniatis T, Tasic B. Alternative pre-mRNA splicing and proteome expansion in metazoans. Nature. 2002;418:236-243.
-
(2002)
Nature
, vol.418
, pp. 236-243
-
-
Maniatis, T.1
Tasic, B.2
-
28
-
-
0035230130
-
The splice of life: Alternative splicing and neurological disease
-
Dredge BK, Polydorides AD, Darnell RB. The splice of life: alternative splicing and neurological disease. Nat Rev Neurosci. 2001; 2:43-50.
-
(2001)
Nat Rev Neurosci
, vol.2
, pp. 43-50
-
-
Dredge, B.K.1
Polydorides, A.D.2
Darnell, R.B.3
-
29
-
-
25844435702
-
Nonsensemediated mRNA decay factors act in concert to regulate common mRNA targets
-
Rehwinkel J, Letunic I, Raes J, Bork P, Izaurralde E. Nonsensemediated mRNA decay factors act in concert to regulate common mRNA targets. RNA. 2005;11:1530-1544.
-
(2005)
RNA
, vol.11
, pp. 1530-1544
-
-
Rehwinkel, J.1
Letunic, I.2
Raes, J.3
Bork, P.4
Izaurralde, E.5
-
30
-
-
32044454232
-
HUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay
-
Wittmann J, Hol EM, Jack HM. hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay. Mol Cell Biol. 2006;26:1272-1287.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1272-1287
-
-
Wittmann, J.1
Hol, E.M.2
Jack, H.M.3
-
31
-
-
6944256813
-
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
-
Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet. 2004;36:1073-1078.
-
(2004)
Nat Genet
, vol.36
, pp. 1073-1078
-
-
Mendell, J.T.1
Sharifi, N.A.2
Meyers, J.L.3
Martinez-Murillo, F.4
Dietz, H.C.5
-
32
-
-
35548950947
-
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells
-
Linde L, Boelz S, Neu-Yilik G, Kulozik AE, Kerem B. The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur J Hum Genet. 2007;15:1156-1162.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 1156-1162
-
-
Linde, L.1
Boelz, S.2
Neu-Yilik, G.3
Kulozik, A.E.4
Kerem, B.5
-
33
-
-
44149104364
-
NMD is essential for hematopoietic stem and progenitor cells and for eliminating byproducts of programmed DNA rearrangements
-
Weischenfeldt J, Damgaard I, Bryder D, et al. NMD is essential for hematopoietic stem and progenitor cells and for eliminating byproducts of programmed DNA rearrangements. Genes Dev. 2008; 22:1381-1396.
-
(2008)
Genes Dev
, vol.22
, pp. 1381-1396
-
-
Weischenfeldt, J.1
Damgaard, I.2
Bryder, D.3
-
34
-
-
0037320770
-
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
-
Bateman JF, Freddi S, Nattrass G, Savarirayan R. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet. 2003;12:217-225.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 217-225
-
-
Bateman, J.F.1
Freddi, S.2
Nattrass, G.3
Savarirayan, R.4
-
35
-
-
0033573979
-
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase
-
Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A. 1999;96:1315-1320.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 1315-1320
-
-
Linari, M.1
Ueffing, M.2
Manson, F.3
Wright, A.4
Meitinger, T.5
Becker, J.6
-
36
-
-
0034284501
-
Identification of a novel protein interacting with RPGR
-
Boylan JP, Wright AF. Identification of a novel protein interacting with RPGR. Hum Mol Genet. 2000;9:2085-2093.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2085-2093
-
-
Boylan, J.P.1
Wright, A.F.2
-
37
-
-
0034284508
-
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
-
Roepman R, Bernoud-Hubac N, Schick DE, et al. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet. 2000;9:2095-2105.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2095-2105
-
-
Roepman, R.1
Bernoud-Hubac, N.2
Schick, D.E.3
-
38
-
-
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
-
39
-
-
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. Vision Res. 2008;48:366-376.
-
(2008)
Vision Res
, vol.48
, pp. 366-376
-
-
He, S.1
Parapuram, S.K.2
Hurd, T.W.3
-
40
-
-
0036498543
-
Splicing regulation as a potential genetic modifier
-
Nissim-Rafinia M, Kerem B. Splicing regulation as a potential genetic modifier. Trends Genet. 2002;18:123-127.
-
(2002)
Trends Genet
, vol.18
, pp. 123-127
-
-
Nissim-Rafinia, M.1
Kerem, B.2
-
42
-
-
0030922189
-
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
-
Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet. 1997;51:314-321.
-
(1997)
Clin Genet
, vol.51
, pp. 314-321
-
-
Rosenberg, T.1
Haim, M.2
Hauch, A.M.3
Parving, A.4
-
43
-
-
0026599345
-
The 35-kDa mammalian splicing factor SC35 mediates specific interactions between U1 and U2 small nuclear ribonucleoprotein particles at the 3′ splice site
-
Fu XD, Maniatis T. The 35-kDa mammalian splicing factor SC35 mediates specific interactions between U1 and U2 small nuclear ribonucleoprotein particles at the 3′ splice site. Proc Natl Acad Sci U S A. 1992;89:1725-1729.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 1725-1729
-
-
Fu, X.D.1
Maniatis, T.2
-
44
-
-
0034625379
-
Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
-
D'Souza I, Schellenberg GD. Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion. J Biol Chem. 2000;275:17700-17709.
-
(2000)
J Biol Chem
, vol.275
, pp. 17700-17709
-
-
D'Souza, I.1
Schellenberg, G.D.2
-
45
-
-
0036201584
-
Alternative splicing in the alpha-galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype
-
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002;70:994-1002.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 994-1002
-
-
Ishii, S.1
Nakao, S.2
Minamikawa-Tachino, R.3
Desnick, R.J.4
Fan, J.Q.5
-
46
-
-
53349143685
-
Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly
-
Brunner S, Colman D, Travis AJ, et al. Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod. 2008;79:608-617.
-
(2008)
Biol Reprod
, vol.79
, pp. 608-617
-
-
Brunner, S.1
Colman, D.2
Travis, A.J.3
-
47
-
-
34249866185
-
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
-
Banin E, Mizrahi-Meissonnier L, Neis R, et al. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A. 2007;143A: 1150-1158.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1150-1158
-
-
Banin, E.1
Mizrahi-Meissonnier, L.2
Neis, R.3
-
48
-
-
40849094277
-
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
-
Walia S, Fishman GA, Swaroop A, et al. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. Arch Ophthalmol. 2008;126:379-384.
-
(2008)
Arch Ophthalmol
, vol.126
, pp. 379-384
-
-
Walia, S.1
Fishman, G.A.2
Swaroop, A.3
|