-
1
-
-
0021356281
-
Prevalence of retinitis pigmentosa in Maine
-
Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984: 97: 357-365.
-
(1984)
Am J Ophthalmol
, vol.97
, pp. 357-365
-
-
Bunker, C.H.1
Berson, E.L.2
Bromley, W.C.3
Hayes, R.P.4
Roderick, T.H.5
-
3
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
Black DL. Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 2003: 72: 291-336.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
5
-
-
0029382603
-
Finding splice sites within a wildnerness of RNA
-
Black DL. Finding splice sites within a wildnerness of RNA. RNA 1995: 1: 763-771.
-
(1995)
RNA
, vol.1
, pp. 763-771
-
-
Black, D.L.1
-
6
-
-
0034161419
-
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
-
Blencowe BJ. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 2000: 25: 106-110.
-
(2000)
Trends Biochem Sci
, vol.25
, pp. 106-110
-
-
Blencowe, B.J.1
-
7
-
-
0034256020
-
Alternative pre-mRNA splicing: the logic of combinatorial control
-
Smith CWJ, Valcárcel J. Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci 2000: 25: 381-388.
-
(2000)
Trends Biochem Sci
, vol.25
, pp. 381-388
-
-
Smith, C.W.J.1
Valcárcel, J.2
-
8
-
-
70350569286
-
Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches
-
Chen M, Manley JL. Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat Rev Mol Cell Biol 2009: 10: 741-754.
-
(2009)
Nat Rev Mol Cell Biol
, vol.10
, pp. 741-754
-
-
Chen, M.1
Manley, J.L.2
-
9
-
-
0347623371
-
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
-
Johnson JM, Castle J, Garrett-Engele P et al. Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 2003: 302: 2141-2144.
-
(2003)
Science
, vol.302
, pp. 2141-2144
-
-
Johnson, J.M.1
Castle, J.2
Garrett-Engele, P.3
-
10
-
-
0036712421
-
Genome-wide detection of tissue-specific alternative splicing in the human transcriptome
-
Xu Q, Modrek B, Lee C. Genome-wide detection of tissue-specific alternative splicing in the human transcriptome. Nucleic Acids Res 2002: 30: 3754-3766.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3754-3766
-
-
Xu, Q.1
Modrek, B.2
Lee, C.3
-
11
-
-
35548940665
-
Neuronal regulation of alternative pre-mRNA splicing
-
Li Q, Lee JA, Black DL. Neuronal regulation of alternative pre-mRNA splicing. Nat Rev Neurosci 2007: 8: 819-831.
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 819-831
-
-
Li, Q.1
Lee, J.A.2
Black, D.L.3
-
12
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
-
Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992: 90: 41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
13
-
-
33744757686
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
Chang B, Khanna H, Hawes N et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006: 15: 1847-1857.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
-
14
-
-
0034163837
-
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
-
D'Cruz PM, Yasumura D, Weir J et al. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum Mol Genet 2000: 9: 645-651.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 645-651
-
-
D'Cruz, P.M.1
Yasumura, D.2
Weir, J.3
-
15
-
-
0036667987
-
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
-
Kameya S, Hawes NL, Chang B et al. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet 2002: 11: 1879-1886.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1879-1886
-
-
Kameya, S.1
Hawes, N.L.2
Chang, B.3
-
16
-
-
0035421442
-
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice
-
Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet 2001: 10: 1619-1626.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1619-1626
-
-
Haider, N.B.1
Naggert, J.K.2
Nishina, P.M.3
-
17
-
-
0028132591
-
Identification of alternatively spliced variants of type II procollagen in vitreous
-
Bishop PN, Reardon AJ, McLeod D, Ayad S. Identification of alternatively spliced variants of type II procollagen in vitreous. Biochem Biophys Res Commun 1994: 203: 289-295.
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 289-295
-
-
Bishop, P.N.1
Reardon, A.J.2
McLeod, D.3
Ayad, S.4
-
18
-
-
0036846623
-
Key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations
-
Parma ES, Korkko J, Hagler WS, Ala-Kokko L. Key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol 2002: 134: 728-734.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 728-734
-
-
Parma, E.S.1
Korkko, J.2
Hagler, W.S.3
Ala-Kokko, L.4
-
19
-
-
0036141515
-
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration
-
Gupta SK, Leonard BC, Damji KF, Bulman DE. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol 2002: 133: 203-210.
-
(2002)
Am J Ophthalmol
, vol.133
, pp. 203-210
-
-
Gupta, S.K.1
Leonard, B.C.2
Damji, K.F.3
Bulman, D.E.4
-
20
-
-
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
-
21
-
-
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
-
22
-
-
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
-
23
-
-
4444375317
-
A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping
-
Demirci FYK, 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.K.1
Radak, A.L.2
Rigatti, B.W.3
Mah, T.S.4
Gorin, M.B.5
-
24
-
-
79955642348
-
Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells
-
Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J. Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther 2011: 19: 936-941.
-
(2011)
Mol Ther
, vol.19
, pp. 936-941
-
-
Glaus, E.1
Schmid, F.2
Da Costa, R.3
Berger, W.4
Neidhardt, J.5
-
25
-
-
77949878448
-
Mutation- and tissue-specific alterations of RPGR transcripts
-
Schmid F, Glaus E, Cremers FPM et al. Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci 2010: 51: 1628-1635.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 1628-1635
-
-
Schmid, F.1
Glaus, E.2
Cremers, F.P.M.3
-
26
-
-
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
-
27
-
-
80052613455
-
Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration
-
Wright RN, Hong DH, Perkins B. Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci 2011: 52: 5189-5201.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 5189-5201
-
-
Wright, R.N.1
Hong, D.H.2
Perkins, B.3
-
28
-
-
0346096991
-
Dominant, gain-of-function mutant produced by truncation of RPGR
-
Hong DH, Pawlyk BS, Adamian M, Li T. 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
Li, T.4
-
29
-
-
34548014309
-
Identification and characterization of a novel RPGR isoform in human retina
-
Neidhardt J, Glaus ÃE, Barthelmes D et al. 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, A.2
Barthelmes, D.3
-
31
-
-
0030927321
-
Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae
-
Weidenhammer EM, Ruiz-Noriega M, Woolford JL. Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae. Mol Cell Biol 1997: 17: 3580-3588.
-
(1997)
Mol Cell Biol
, vol.17
, pp. 3580-3588
-
-
Weidenhammer, E.M.1
Ruiz-Noriega, M.2
Woolford, J.L.3
-
32
-
-
0036500141
-
Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
-
Makarova OV, Makarov EM, Liu S, Vornlocher HP, Lührmann R. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J 2002: 21: 1148-1157.
-
(2002)
EMBO J
, vol.21
, pp. 1148-1157
-
-
Makarova, O.V.1
Makarov, E.M.2
Liu, S.3
Vornlocher, H.P.4
Lührmann, R.5
-
33
-
-
17944379537
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
Vithana EN, Abu-Safieh L, Allen MJ et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 2001: 8: 375-381.
-
(2001)
Mol Cell
, vol.8
, pp. 375-381
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Allen, M.J.3
-
34
-
-
0043196964
-
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family
-
Wang L, Ribaudo M, Zhao K et al. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A 2006: 121: 235-239.
-
(2006)
Am J Med Genet A
, vol.121
, pp. 235-239
-
-
Wang, L.1
Ribaudo, M.2
Zhao, K.3
-
35
-
-
3042823866
-
A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
-
Xia K, Zheng D, Pan Q et al. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis 2004: 10: 361-365.
-
(2004)
Mol Vis
, vol.10
, pp. 361-365
-
-
Xia, K.1
Zheng, D.2
Pan, Q.3
-
36
-
-
0242416957
-
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa
-
Martinez-Gimeno M, Gamundi MJ, Hernan I et al. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2003: 44: 2171-2177.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 2171-2177
-
-
Martinez-Gimeno, M.1
Gamundi, M.J.2
Hernan, I.3
-
37
-
-
77957732576
-
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
-
Audo I, Bujakowska K, Mohand-Said S et al. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet 2010: 11: 145-153.
-
(2010)
BMC Med Genet
, vol.11
, pp. 145-153
-
-
Audo, I.1
Bujakowska, K.2
Mohand-Said, S.3
-
38
-
-
34147096482
-
Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
-
Mordes D, Yuan L, Xu L et al. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiol Dis 2007: 26: 291-300.
-
(2007)
Neurobiol Dis
, vol.26
, pp. 291-300
-
-
Mordes, D.1
Yuan, L.2
Xu, L.3
-
39
-
-
12744278348
-
Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells
-
Yuan L, Kawada M, Havlioglu N, Tang H, Wu JY. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. J Neurosci 2007: 25: 748-757.
-
(2007)
J Neurosci
, vol.25
, pp. 748-757
-
-
Yuan, L.1
Kawada, M.2
Havlioglu, N.3
Tang, H.4
Wu, J.Y.5
-
40
-
-
0036899110
-
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
-
Deery EC, Vithana EN, Newbold RJ et al. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum Mol Genet 2002: 11: 3209-3219.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3209-3219
-
-
Deery, E.C.1
Vithana, E.N.2
Newbold, R.J.3
-
41
-
-
0035878541
-
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
-
McKie AB, McHale JC, Keen TJ et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 2001: 10: 1555-1562.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1555-1562
-
-
McKie, A.B.1
McHale, J.C.2
Keen, T.J.3
-
42
-
-
17844395704
-
Prp8 protein: at the heart of the spliceosome
-
Grainger RJ, Beggs JD. Prp8 protein: at the heart of the spliceosome. RNA 2005: 11: 533-557.
-
(2005)
RNA
, vol.11
, pp. 533-557
-
-
Grainger, R.J.1
Beggs, J.D.2
-
43
-
-
18244377189
-
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
-
Chakarova CF, Hims MM, Bolz H et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 2002: 11: 87-92.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 87-92
-
-
Chakarova, C.F.1
Hims, M.M.2
Bolz, H.3
-
44
-
-
34547776329
-
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells
-
Comitato A, Spampanato C, Chakarova C et al. Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. Hum Mol Genet 2007: 16: 1699-1707.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1699-1707
-
-
Comitato, A.1
Spampanato, C.2
Chakarova, C.3
-
45
-
-
44849093995
-
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa
-
Gamundi MJ, Hernan I, Muntanyola M et al. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. Hum Mutat 2008: 29: 869-878.
-
(2008)
Hum Mutat
, vol.29
, pp. 869-878
-
-
Gamundi, M.J.1
Hernan, I.2
Muntanyola, M.3
-
46
-
-
8344263797
-
Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex
-
Maita H, Kitaura H, Ariga H, Iguchi-Ariga SMM. Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. Exp Cell Res 2005: 302: 61-68.
-
(2005)
Exp Cell Res
, vol.302
, pp. 61-68
-
-
Maita, H.1
Kitaura, H.2
Ariga, H.3
Iguchi-Ariga, S.M.M.4
-
47
-
-
85047697400
-
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
-
Keen TJ, Hims MM, McKie AB et al. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet 2002: 10: 245-249.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 245-249
-
-
Keen, T.J.1
Hims, M.M.2
McKie, A.B.3
-
48
-
-
79955832411
-
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa
-
Tanackovic G, Ransijn A, Ayuso C et al. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2011: 88: 643-649.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 643-649
-
-
Tanackovic, G.1
Ransijn, A.2
Ayuso, C.3
-
49
-
-
71849087061
-
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs
-
Zhao C, Bellur DL, Lu S et al. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet 2009: 85: 617-627.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 617-627
-
-
Zhao, C.1
Bellur, D.L.2
Lu, S.3
-
50
-
-
77449121298
-
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family
-
Li N, Mei H, MacDonald IM, Jiao X, Hejtmancik JF. Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Invest Ophthalmol Vis Sci 2010: 51: 1036-1043.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 1036-1043
-
-
Li, N.1
Mei, H.2
MacDonald, I.M.3
Jiao, X.4
Hejtmancik, J.F.5
-
51
-
-
33750394118
-
Review pre-mRNA splicing and retinitis pigmentosa
-
Mordes D, Luo X, Kar A et al. Review pre-mRNA splicing and retinitis pigmentosa. Mol Vis 2006: 12: 1259-1271.
-
(2006)
Mol Vis
, vol.12
, pp. 1259-1271
-
-
Mordes, D.1
Luo, X.2
Kar, A.3
-
52
-
-
79952239508
-
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration
-
Graziotto JJ, Farkas MH, Bujakowska K et al. Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci 2011: 52: 190-198.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 190-198
-
-
Graziotto, J.J.1
Farkas, M.H.2
Bujakowska, K.3
-
53
-
-
79955864211
-
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
-
Tanackovic G, Ransijn A, Thibault P et al. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet 2011: 20: 2116-2130.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2116-2130
-
-
Tanackovic, G.1
Ransijn, A.2
Thibault, P.3
-
54
-
-
79251605486
-
Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP
-
Cao H, Wu J, Lam S et al. Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PLoS One 2011: 6: e15860.
-
(2011)
PLoS One
, vol.6
-
-
Cao, H.1
Wu, J.2
Lam, S.3
-
55
-
-
79959718365
-
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation
-
Schmid F, Glaus E, Barthelmes D et al. U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Hum Mutat 2011: 32: 815-824.
-
(2011)
Hum Mutat
, vol.32
, pp. 815-824
-
-
Schmid, F.1
Glaus, E.2
Barthelmes, D.3
-
56
-
-
80051740905
-
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa
-
Hernan I, Gamundi MJ, Planas E et al. Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2011: 52: 3723-3729.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 3723-3729
-
-
Hernan, I.1
Gamundi, M.J.2
Planas, E.3
-
57
-
-
84864390703
-
Pre-mRNA splicing in disease and therapeutics
-
Singh RK, Cooper TA. Pre-mRNA splicing in disease and therapeutics. Trends Mol Med 2012: 18: 472-482.
-
(2012)
Trends Mol Med
, vol.18
, pp. 472-482
-
-
Singh, R.K.1
Cooper, T.A.2
-
58
-
-
84856431819
-
RNA therapeutics: beyond RNA interference and antisense oligonucleotides
-
Kole R, Krainer AR, Altman S. RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov 2012: 11: 125-140.
-
(2012)
Nat Rev Drug Discov
, vol.11
, pp. 125-140
-
-
Kole, R.1
Krainer, A.R.2
Altman, S.3
-
59
-
-
45249106162
-
Spinal muscular atrophy
-
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008: 371: 2120-2133.
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
61
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001: 10: 2841-2849.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2841-2849
-
-
Andreassi, C.1
Jarecki, J.2
Zhou, J.3
-
62
-
-
77749301118
-
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
-
Hastings ML, Berniac J, Liu YH et al. Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 2010: 1: 5ra12.
-
(2010)
Sci Transl Med
, vol.1
-
-
Hastings, M.L.1
Berniac, J.2
Liu, Y.H.3
-
63
-
-
34548104659
-
Splicing factor SF3b as a target of the antitumor natural product pladienolide
-
Kotake Y, Sagane K, Owa T et al. Splicing factor SF3b as a target of the antitumor natural product pladienolide. Nat Chem Biol 2007: 3: 570-575.
-
(2007)
Nat Chem Biol
, vol.3
, pp. 570-575
-
-
Kotake, Y.1
Sagane, K.2
Owa, T.3
-
64
-
-
84871924824
-
The development and application of small molecule modulators of SF3b as therapeutic agents for cancer
-
Webb TR, Joyner AS, Potter PM. The development and application of small molecule modulators of SF3b as therapeutic agents for cancer. Drug Discov Today 2013: 18: 43-49.
-
(2013)
Drug Discov Today
, vol.18
, pp. 43-49
-
-
Webb, T.R.1
Joyner, A.S.2
Potter, P.M.3
-
65
-
-
79961049732
-
Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing
-
Fan L, Lagisetti C, Edwards CC, Webb TR, Potter PM. Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing. ACS Chem Biol 2012: 6: 582-589.
-
(2012)
ACS Chem Biol
, vol.6
, pp. 582-589
-
-
Fan, L.1
Lagisetti, C.2
Edwards, C.C.3
Webb, T.R.4
Potter, P.M.5
-
66
-
-
0034916318
-
Regulation of alternative splicing of human tau exon 10 by phosphorylation of splicing factors
-
Hartmann AM, Rujescu D, Giannakouros T et al. Regulation of alternative splicing of human tau exon 10 by phosphorylation of splicing factors. Mol Cell Neurosci 2001: 18: 80-90.
-
(2001)
Mol Cell Neurosci
, vol.18
, pp. 80-90
-
-
Hartmann, A.M.1
Rujescu, D.2
Giannakouros, T.3
-
67
-
-
80053932983
-
Stress-responsive maturation of Clk1/4 pre-mRNAs promotes phosphorylation of SR splicing factor
-
Ninomiya K, Kataoka N, Hagiwara M. Stress-responsive maturation of Clk1/4 pre-mRNAs promotes phosphorylation of SR splicing factor. J Cell Biol 2011: 195: 27-40.
-
(2011)
J Cell Biol
, vol.195
, pp. 27-40
-
-
Ninomiya, K.1
Kataoka, N.2
Hagiwara, M.3
-
68
-
-
2342655502
-
Manipulation of alternative splicing by a newly developed inhibitor of Clks
-
Muraki M, Ohkawara B, Hosoya T et al. Manipulation of alternative splicing by a newly developed inhibitor of Clks. J Biol Chem 2004: 279: 24246-24254.
-
(2004)
J Biol Chem
, vol.279
, pp. 24246-24254
-
-
Muraki, M.1
Ohkawara, B.2
Hosoya, T.3
-
69
-
-
76749090540
-
Genome-wide RNAi screen identifies human host factors crucial for influenza virus replication
-
Karlas A, Machuy N, Shin Y et al. Genome-wide RNAi screen identifies human host factors crucial for influenza virus replication. Nature 2010: 463: 818-822.
-
(2010)
Nature
, vol.463
, pp. 818-822
-
-
Karlas, A.1
Machuy, N.2
Shin, Y.3
-
70
-
-
79955823029
-
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
-
Nishida A, Kataoka N, Takeshima Y et al. Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun 2011: 2: 1-8.
-
(2011)
Nat Commun
, vol.2
, pp. 1-8
-
-
Nishida, A.1
Kataoka, N.2
Takeshima, Y.3
-
71
-
-
77949318969
-
Regulation of vascular endothelial growth factor (VEGF) splicing from pro-angiogenic to anti-angiogenic isoforms: a novel therapeutic strategy for angiogenesis
-
Nowak DG, Amin EM, Rennel ES et al. Regulation of vascular endothelial growth factor (VEGF) splicing from pro-angiogenic to anti-angiogenic isoforms: a novel therapeutic strategy for angiogenesis. J Biol Chem 2010: 285: 5532-5540.
-
(2010)
J Biol Chem
, vol.285
, pp. 5532-5540
-
-
Nowak, D.G.1
Amin, E.M.2
Rennel, E.S.3
-
72
-
-
79958294217
-
Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells
-
Chang JG, Yang DM, Chang WH et al. Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells. PLoS One 2011: 6: e18643.
-
(2011)
PLoS One
, vol.6
-
-
Chang, J.G.1
Yang, D.M.2
Chang, W.H.3
|