-
1
-
-
0343907206
-
Protein functions in pre-mRNA splicing
-
Will Cl, Lührmann R. Protein functions in pre-mRNA splicing. Cur Opin Cell Biol. 1997;9:320-328.
-
(1997)
Cur Opin Cell Biol.
, vol.9
, pp. 320-328
-
-
Will, C.1
Lührmann, R.2
-
2
-
-
0001468848
-
Splicing of precursors to mRNAs by the spliceosomes
-
Cold Spring Harbor, NY: Cold Spring Harbor Press;
-
Burge CB, Tsuchl T, and Sharp PA. Splicing of precursors to mRNAs by the spliceosomes. The RNA World. Cold Spring Harbor, NY: Cold Spring Harbor Press; 1999:525-560.
-
(1999)
The RNA World
, pp. 525-560
-
-
Burge, C.B.1
Tsuchl, T.2
Sharp, P.A.3
-
3
-
-
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
-
4
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
-
(2002)
Nat Rev Genet.
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
5
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419-437.
-
(2003)
Genes Dev.
, vol.17
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
7
-
-
42149108469
-
Hereditary retinal disease
-
Goodwin P. Hereditary retinal disease. Curr Opin Ophthalmol. 2008;19:255-262.
-
(2008)
Curr Opin Ophthalmol.
, vol.19
, pp. 255-262
-
-
Goodwin, P.1
-
8
-
-
0037095736
-
Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
-
Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002;11:1219-1227.
-
(2002)
Hum Mol Genet.
, vol.11
, pp. 1219-1227
-
-
Rivolta, C.1
Sharon, D.2
DeAngelis, M.M.3
Dryja, T.P.4
-
9
-
-
33746681394
-
Prevalence of diseasecausing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families
-
Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of diseasecausing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47:3052-3064.
-
(2006)
Invest Ophthalmol Vis Sci.
, vol.47
, pp. 3052-3064
-
-
Sullivan, L.S.1
Bowne, S.J.2
Birch, D.G.3
et al4
-
10
-
-
0036726480
-
Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (adRP) (in Spanish)
-
Millá E, Maseras M, Martínez-Gimeno M, et al. Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (adRP) (in Spanish). Arch Soc Esp Oftalmol. 2002;77:480-484.
-
(2002)
Arch Soc Esp Oftalmol.
, vol.77
, pp. 480-484
-
-
Millá, E.1
Maseras, M.2
Martínez-Gimeno, M.3
et al4
-
11
-
-
0030014637
-
New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family
-
Reig C, Alvarez AI, Tejada I, et al. New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family. Hum Mutat. 1996;8:93-94.
-
(1996)
Hum Mutat.
, vol.8
, pp. 93-94
-
-
Reig, C.1
Alvarez, A.I.2
Tejada, I.3
et al4
-
12
-
-
0034223110
-
Three novel mutations (P215L, T289P, and 3811-2 A>G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families
-
Martínez-Gimeno M, Trujillo MJ, Lorda I, et al. Three novel mutations (P215L, T289P, and 3811-2 A>G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families. Hum Mutat. 2000;16:95-96.
-
(2000)
Hum Mutat.
, vol.16
, pp. 95-96
-
-
Martínez-Gimeno, M.1
Trujillo, M.J.2
Lorda, I.3
et al4
-
13
-
-
0028799346
-
Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation
-
Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL. Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation. Invest Ophthalmol Vis Sci. 1995;36:2186-2192.
-
(1995)
Invest Ophthalmol Vis Sci.
, vol.36
, pp. 2186-2192
-
-
Rosenfeld, P.J.1
Hahn, L.B.2
Sandberg, M.A.3
Dryja, T.P.4
Berson, E.L.5
-
14
-
-
0344586932
-
A rare homozygous rhodopsin splice-site mutation: The issue of when and whether to offer presymptomatic testing
-
Greenberg J, Roberts L, Ramesar R. A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing. Ophthalmic Genet. 2003;24:225-232.
-
(2003)
Ophthalmic Genet.
, vol.24
, pp. 225-232
-
-
Greenberg, J.1
Roberts, L.2
Ramesar, R.3
-
15
-
-
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
et al4
-
16
-
-
0037422575
-
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
-
Lewis BP, Green RE, Brenner SE. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A. 2003;100:189-192.
-
(2003)
Proc Natl Acad Sci U S A.
, vol.100
, pp. 189-192
-
-
Lewis, B.P.1
Green, R.E.2
Brenner, S.E.3
-
17
-
-
0742323558
-
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
-
Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004;5:89-99.
-
(2004)
Nat Rev Mol Cell Biol.
, vol.5
, pp. 89-99
-
-
Maquat, L.E.1
-
19
-
-
41849140523
-
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
-
Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest. 2008;118:1519-1531.
-
(2008)
J Clin Invest.
, vol.118
, pp. 1519-1531
-
-
Rio Frio, T.1
Wade, N.M.2
Ransijn, A.3
Berson, E.L.4
Beckmann, J.S.5
Rivolta, C.6
-
20
-
-
33645808262
-
A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease
-
Abu-Safieh L, Vithana EN, Mantel I, et al. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis. 2006;12:384-388.
-
(2006)
Mol Vis.
, vol.12
, pp. 384-388
-
-
Abu-Safieh, L.1
Vithana, E.N.2
Mantel, I.3
et al4
-
21
-
-
33745686067
-
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
-
Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat. 2006;27:644-653.
-
(2006)
Hum Mutat.
, vol.27
, pp. 644-653
-
-
Rivolta, C.1
McGee, T.L.2
Rio Frio, T.3
Jensen, R.V.4
Berson, E.L.5
Dryja, T.P.6
-
22
-
-
42649144148
-
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
-
Wilkie SE, Vaclavik V, Wu H, et al. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis. 2008;14:683-690.
-
(2008)
Mol Vis.
, vol.14
, pp. 683-690
-
-
Wilkie, S.E.1
Vaclavik, V.2
Wu, H.3
et al4
-
23
-
-
0028215806
-
Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa
-
Jacobson SG, Kemp CM, Cideciyan AV, Macke JP, Sung CH, Nathans J. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994;35:2521-2534.
-
(1994)
Invest Ophthalmol Vis Sci.
, vol.35
, pp. 2521-2534
-
-
Jacobson, S.G.1
Kemp, C.M.2
Cideciyan, A.V.3
McKe, J.P.4
Sung, C.H.5
Nathans, J.6
-
24
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
Rosenfeld PR, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1:209-213.
-
(1992)
Nat Genet.
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.R.1
Cowley, G.S.2
McGee, T.L.3
Sandberg, M.A.4
Berson, E.L.5
Dryja, T.P.6
-
25
-
-
12544250742
-
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa
-
Rajan RS, Kopito RR. Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. J Biol Chem. 2005;280:1284-1291.
-
(2005)
J Biol Chem.
, vol.280
, pp. 1284-1291
-
-
Rajan, R.S.1
Kopito, R.R.2
-
26
-
-
52949134162
-
Pharmacological manipulation of gainof-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa
-
Mendes HF, Cheetham ME. Pharmacological manipulation of gainof-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa. Hum Mol Genet. 2008;17:3043-3054.
-
(2008)
Hum Mol Genet.
, vol.17
, pp. 3043-3054
-
-
Mendes, H.F.1
Cheetham, M.E.2
-
27
-
-
0032545933
-
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
-
Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature. 1998;391:806-811.
-
(1998)
Nature.
, vol.391
, pp. 806-811
-
-
Fire, A.1
Xu, S.2
Montgomery, M.K.3
Kostas, S.A.4
Driver, S.E.5
Mello, C.C.6
-
29
-
-
48249098892
-
Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi
-
Ohnishi Y, Tamura Y, Yoshida M, Tokunaga K, Hohjoh H. Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi. PLoS ONE. 2008;3:e2248.
-
(2008)
PLoS ONE.
, vol.3
-
-
Ohnishi, Y.1
Tamura, Y.2
Yoshida, M.3
Tokunaga, K.4
Hohjoh, H.5
-
30
-
-
0028884942
-
A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
-
Carter MS, Doskow J, Morris P, et al. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J Biol Chem. 1995;270:28995-29003.
-
(1995)
J Biol Chem.
, vol.270
, pp. 28995-29003
-
-
Carter, M.S.1
Doskow, J.2
Morris, P.3
et al4
-
31
-
-
0031870169
-
Intron function in the nonsense-mediated decay of beta-globin mRNA: Indications that premRNA splicing in the nucleus can influence mRNA translation in the cytoplasm
-
Zhang J, Sun X, Qian Y, Maquat LE. Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that premRNA splicing in the nucleus can influence mRNA translation in the cytoplasm. RNA. 1998;4:801-815.
-
(1998)
RNA.
, vol.4
, pp. 801-815
-
-
Zhang, J.1
Sun, X.2
Qian, Y.3
Maquat, L.E.4
-
32
-
-
36849026128
-
Applications of RNA interference in mammalian systems
-
Martin SE, Caplen NJ. Applications of RNA interference in mammalian systems. Annu Rev Genomics Hum Genet. 2007;8:81-108.
-
(2007)
Annu Rev Genomics Hum Genet.
, vol.8
, pp. 81-108
-
-
Martin, S.E.1
Caplen, N.J.2
-
33
-
-
0031045876
-
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
-
Humphries MM, Rancourt D, Farrar GJ, et al. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet. 1997;15:216-219.
-
(1997)
Nat Genet.
, vol.15
, pp. 216-219
-
-
Humphries, M.M.1
Rancourt, D.2
Farrar, G.J.3
et al4
-
34
-
-
33645224383
-
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture
-
Palfi A, Ader M, Kiang AS, et al. RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture. Hum Mutat. 2006;27:260-268.
-
(2006)
Hum Mutat.
, vol.27
, pp. 260-268
-
-
Palfi, A.1
Ader, M.2
Kiang, A.S.3
et al4
-
35
-
-
33947595161
-
Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery
-
Gorbatyuk M, Justilien V, Liu J, Hauswirth WW, Lewin AS. Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery. Vision Res. 2007;47:1202-1208.
-
(2007)
Vision Res.
, vol.47
, pp. 1202-1208
-
-
Gorbatyuk, M.1
Justilien, V.2
Liu, J.3
Hauswirth, W.W.4
Lewin, A.S.5
-
36
-
-
34247278567
-
A combinatorial RNAi: A winning strategy for the race against evolving targets
-
Grimm D, Kay MA. A combinatorial RNAi: a winning strategy for the race against evolving targets? Mol Ther. 2007;15:878-888.
-
(2007)
Mol Ther.
, vol.15
, pp. 878-888
-
-
Grimm, D.1
Kay, M.A.2
-
37
-
-
34347246364
-
RNA interference-mediated suppression and replacement of human rhodopsin in vivo
-
O'Reilly M, Palfi A, Chadderton N, et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet. 2007;81:127-135.
-
(2007)
Am J Hum Genet.
, vol.81
, pp. 127-135
-
-
O'Reilly, M.1
Palfi, A.2
Chadderton, N.3
et al4
-
38
-
-
38749085254
-
A transgenic mouse model for gene therapy of rhodopsin-linked retinitis pigmentosa
-
O'Reilly M, Millington-Ward S, Palfi A, et al. A transgenic mouse model for gene therapy of rhodopsin-linked retinitis pigmentosa. Vision Res. 2008;48:386-391.
-
(2008)
Vision Res.
, vol.48
, pp. 386-391
-
-
O'Reilly, M.1
Millington-Ward, S.2
Palfi, A.3
et al4
|