메뉴 건너뛰기




Volumn 22, Issue 5, 2004, Pages 535-546

Alternative splicing in disease and therapy

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; MUTAGENESIS; PATIENT TREATMENT; PROTEINS;

EID: 2342450548     PISSN: 10870156     EISSN: None     Source Type: Journal    
DOI: 10.1038/nbt964     Document Type: Review
Times cited : (451)

References (186)
  • 1
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter, J.C. et al. The sequence of the human genome. Science 291, 1304-1351 (2001).
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1
  • 2
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander, E.S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001).
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1
  • 3
    • 0345796759 scopus 로고    scopus 로고
    • The phosphoryl transfer reactions in pre-messenger RNA splicing
    • (eds. Soll, D., Nishimura, S. & Moore, P.B.) (Pergamon, Amsterdam)
    • Garcia-Blanco, M.A., Ghosh, S. & Lindsey-Boltz, L.A. The phosphoryl transfer reactions in pre-messenger RNA splicing. in RNA. (eds. Soll, D., Nishimura, S. & Moore, P.B.) 109-123 (Pergamon, Amsterdam, 2001).
    • (2001) RNA
    • Garcia-Blanco, M.A.1    Ghosh, S.2    Lindsey-Boltz, L.A.3
  • 4
    • 0042671357 scopus 로고    scopus 로고
    • Pre-mRNA splicing: Awash in a sea of proteins
    • Jurica, M.S. & Moore, M.J. Pre-mRNA splicing: awash in a sea of proteins. Mol. Cell 12, 5-14 (2003).
    • (2003) Mol. Cell , vol.12 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 5
    • 0344198459 scopus 로고    scopus 로고
    • The spliceosome: The most complex macromolecular machine in the cell?
    • Nilsen, T.W. The spliceosome: the most complex macromolecular machine in the cell? Bioessays 25, 1147-1149 (2003).
    • (2003) Bioessays , vol.25 , pp. 1147-1149
    • Nilsen, T.W.1
  • 6
    • 0038617729 scopus 로고    scopus 로고
    • Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss
    • Modrek, B. & Lee, C.J. Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss. Nat. Genet. 34, 177-180 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 177-180
    • Modrek, B.1    Lee, C.J.2
  • 7
    • 0347623371 scopus 로고    scopus 로고
    • Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
    • Johnson, J.M. et al. Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 302, 2141-2144 (2003).
    • (2003) Science , vol.302 , pp. 2141-2144
    • Johnson, J.M.1
  • 8
    • 1642473041 scopus 로고    scopus 로고
    • How prevalent is functional alternative splicing in the human genome?
    • Sorek, R., Shamir, R. & Ast, G. How prevalent is functional alternative splicing in the human genome? Trends Genet. 20, 68-71 (2004).
    • (2004) Trends Genet. , vol.20 , pp. 68-71
    • Sorek, R.1    Shamir, R.2    Ast, G.3
  • 9
    • 1242352406 scopus 로고    scopus 로고
    • Assessing the impact of alternative splicing on domain interactions in the human proteome
    • Resch, A. et al. Assessing the impact of alternative splicing on domain interactions in the human proteome. J. Proteome Res. 3, 76-83 (2004).
    • (2004) J. Proteome Res. , vol.3 , pp. 76-83
    • Resch, A.1
  • 10
    • 0036534129 scopus 로고    scopus 로고
    • Alternative splicing: Multiple control mechanisms and involvement in human disease
    • Caceres, J.F. & Kornblihtt, A.R. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 18, 186-193 (2002).
    • (2002) Trends Genet. , vol.18 , pp. 186-193
    • Caceres, J.F.1    Kornblihtt, A.R.2
  • 11
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni, L., Chew, S.L. & Kralner, A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3, 285-298 (2002).
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Kralner, A.R.3
  • 12
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino, N.A. & Cooper, T.A. Pre-mRNA splicing and human disease. Genes Dev. 17, 419-437 (2003).
    • (2003) Genes Dev. , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 13
    • 0037678415 scopus 로고    scopus 로고
    • Cell-specific RNA-binding proteins in human disease
    • Musunuru, K. Cell-specific RNA-binding proteins in human disease. Trends Cardiovasc. Med. 13, 188-195 (2003).
    • (2003) Trends Cardiovasc. Med. , vol.13 , pp. 188-195
    • Musunuru, K.1
  • 14
    • 0344011094 scopus 로고    scopus 로고
    • Intrinsic differences between authentic and cryptic 5′ splice sites
    • Roca, X., Sachidanandam, R. & Krainer, A.R. Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res. 31, 6321-6333 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 6321-6333
    • Roca, X.1    Sachidanandam, R.2    Krainer, A.R.3
  • 15
    • 0035904279 scopus 로고    scopus 로고
    • Co-transcriptional splicing of pre-messenger RNAs: Considerations for the mechanism of alternative splicing
    • Goldstrohm, A.C., Greenleaf, A.L. & Garcia-Blanco, M.A. Co-transcriptional splicing of pre-messenger RNAs: considerations for the mechanism of alternative splicing. Gene 277, 31-47 (2001).
    • (2001) Gene , vol.277 , pp. 31-47
    • Goldstrohm, A.C.1    Greenleaf, A.L.2    Garcia-Blanco, M.A.3
  • 16
    • 0032247416 scopus 로고    scopus 로고
    • Evolutionary fates and origins of U12-type introns
    • Burge, C.B., Padgett, R.A. & Sharp, P.A. Evolutionary fates and origins of U12-type introns. Mol. Cell. 2, 773-785 (1998).
    • (1998) Mol. Cell , vol.2 , pp. 773-785
    • Burge, C.B.1    Padgett, R.A.2    Sharp, P.A.3
  • 17
    • 0035949674 scopus 로고    scopus 로고
    • A computational analysis of sequence features involved in recognition of short introns
    • Lim, L.P. & Burge, C.B. A computational analysis of sequence features involved in recognition of short introns. Proc. Natl. Acad. Sci. USA 98, 11193-11198 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 11193-11198
    • Lim, L.P.1    Burge, C.B.2
  • 18
    • 0345169036 scopus 로고    scopus 로고
    • Splicing double: Insights from the second spliceosome
    • Patel, A.A. & Steitz, J.A. Splicing double: insights from the second spliceosome. Nat. Rev. Mol. Cell. Biol. 4, 960-970 (2003).
    • (2003) Nat. Rev. Mol. Cell. Biol. , vol.4 , pp. 960-970
    • Patel, A.A.1    Steitz, J.A.2
  • 19
    • 0037047644 scopus 로고    scopus 로고
    • Predictive identification of exonic splicing enhancers in human genes
    • Fairbrother, W.G., Yeh, R.F., Sharp, P.A. & Burge, C.B. Predictive identification of exonic splicing enhancers in human genes. Science 297, 1007-1013 (2002).
    • (2002) Science , vol.297 , pp. 1007-1013
    • Fairbrother, W.G.1    Yeh, R.F.2    Sharp, P.A.3    Burge, C.B.4
  • 20
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • Cartegni, L., Wang, J., Zhu, Z., Zhang, M.Q. & Krainer, A.R. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31, 3568-3571 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 21
    • 0033811608 scopus 로고    scopus 로고
    • Human genomic sequences that inhibit splicing
    • Fairbrother, W.G. & Chasin, L.A. Human genomic sequences that inhibit splicing. Mol. Cell. Biol. 20, 6816-6825 (2000).
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 6816-6825
    • Fairbrother, W.G.1    Chasin, L.A.2
  • 22
    • 0346121460 scopus 로고    scopus 로고
    • Sequence information for the splicing of human pre-mRNA identified by support vector machine classification
    • Zhang, X.H., Heller, K.A., Hefter, I., Leslie, C.S. & Chasin, L.A. Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. Genome Res. 13, 2637-2650 (2003).
    • (2003) Genome Res. , vol.13 , pp. 2637-2650
    • Zhang, X.H.1    Heller, K.A.2    Hefter, I.3    Leslie, C.S.4    Chasin, L.A.5
  • 23
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget, S.M. Exon recognition in vertebrate splicing. J. Biol. Chem. 270, 2411-2414 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 2411-2414
    • Berget, S.M.1
  • 24
    • 0142092561 scopus 로고    scopus 로고
    • Extensive exon reshuffling over evolutionary time coupled to trans-splicing in Drosophila
    • Labrador, M. & Corces, V.G. Extensive exon reshuffling over evolutionary time coupled to trans-splicing in Drosophila. Genome Res. 13, 2220-2228 (2003).
    • (2003) Genome Res. , vol.13 , pp. 2220-2228
    • Labrador, M.1    Corces, V.G.2
  • 25
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • Graveley, B.R. Sorting out the complexity of SR protein functions. RNA 6, 1197-1211 (2000).
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 26
    • 0032962535 scopus 로고    scopus 로고
    • hnRNP A1 recruited to an exon in vivo can function as an exon splicing silencer
    • Del Gatto-Konczak, F., Olive, M., Gesnel, M.C. & Breathnach, R. hnRNP A1 recruited to an exon in vivo can function as an exon splicing silencer. Mol. Cell Biol. 19, 251-260 (1999).
    • (1999) Mol. Cell Biol. , vol.19 , pp. 251-260
    • Del Gatto-Konczak, F.1    Olive, M.2    Gesnel, M.C.3    Breathnach, R.4
  • 27
    • 0035691667 scopus 로고    scopus 로고
    • Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins
    • Zhu, J., Mayeda, A. & Krainer, A.R. Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol. Cell 13, 1351-1361 (2001).
    • (2001) Mol. Cell , vol.13 , pp. 1351-1361
    • Zhu, J.1    Mayeda, A.2    Krainer, A.R.3
  • 28
    • 0028077730 scopus 로고
    • Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
    • Caceres, J.F., Stamm, S., Helfman, D.M. & Krainer, A.R. Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors. Science 265, 1706-1709 (1994).
    • (1994) Science , vol.265 , pp. 1706-1709
    • Caceres, J.F.1    Stamm, S.2    Helfman, D.M.3    Krainer, A.R.4
  • 29
    • 0033838148 scopus 로고    scopus 로고
    • The RNA-binding protein TIA-I is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5′ splice site
    • Del Gatto-Konczak, F. et al. The RNA-binding protein TIA-I is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5′ splice site. Mol. Cell Biol. 20, 6287-6299 (2000).
    • (2000) Mol. Cell Biol. , vol.20 , pp. 6287-6299
    • Del Gatto-Konczak, F.1
  • 30
    • 0030802124 scopus 로고    scopus 로고
    • Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon
    • Del Gatto, F., Plet, A., Gesnel, M.C., Fort, C. & Breathnach, R. Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon. Mol. Cell Biol. 17, 5106-5116 (1997).
    • (1997) Mol. Cell Biol. , vol.17 , pp. 5106-5116
    • Del Gatto, F.1    Plet, A.2    Gesnel, M.C.3    Fort, C.4    Breathnach, R.5
  • 31
    • 0027400786 scopus 로고
    • The protein Sex-lethal antagonizes the splicing factor U2AF to regulate alternative splicing of transformer pre-mRNA
    • Valcarcel, J., Singh, R., Zamore, P.D. & Green, M.R. The protein Sex-lethal antagonizes the splicing factor U2AF to regulate alternative splicing of transformer pre-mRNA. Nature 362, 171-175 (1993).
    • (1993) Nature , vol.362 , pp. 171-175
    • Valcarcel, J.1    Singh, R.2    Zamore, P.D.3    Green, M.R.4
  • 32
    • 0027424123 scopus 로고
    • Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5′ splice site
    • Horabin, J.L. & Schedl, P. Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5′ splice site. Mol. Cell Biol. 13, 7734-7746 (1993).
    • (1993) Mol. Cell Biol. , vol.13 , pp. 7734-7746
    • Horabin, J.L.1    Schedl, P.2
  • 33
    • 0033634948 scopus 로고    scopus 로고
    • Multisite RNA binding and release of polypyrimidine tract binding protein during the regulation of c-src neural-specific splicing
    • Chou, M.Y., Underwood, J.G., Nikolic, J., Luu, M.H. & Black, D.L. Multisite RNA binding and release of polypyrimidine tract binding protein during the regulation of c-src neural-specific splicing. Mol. Cell 5, 949-957 (2000).
    • (2000) Mol. Cell , vol.5 , pp. 949-957
    • Chou, M.Y.1    Underwood, J.G.2    Nikolic, J.3    Luu, M.H.4    Black, D.L.5
  • 34
    • 0035038207 scopus 로고    scopus 로고
    • Polypyrimidine tract binding protein antagonizes exon definition
    • Wagner, F.J. & Garcia-Blanco, M.A. Polypyrimidine tract binding protein antagonizes exon definition. Mol. Cell Biol. 21, 3281-3288 (2001).
    • (2001) Mol. Cell Biol. , vol.21 , pp. 3281-3288
    • Wagner, F.J.1    Garcia-Blanco, M.A.2
  • 35
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet, B.N. et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 10, 45-53 (2002).
    • (2002) Mol. Cell , vol.10 , pp. 45-53
    • Charlet, B.N.1
  • 36
    • 0031948851 scopus 로고    scopus 로고
    • An intronic sequence element mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing
    • Carstens, R.P., McKeehan, W.L. & Garcia-Blanco, M.A. An intronic sequence element mediates both activation and repression of rat fibroblast growth factor receptor 2 pre-mRNA splicing. Mol. Cell Biol. 18, 2205-2217 (1998).
    • (1998) Mol. Cell Biol. , vol.18 , pp. 2205-2217
    • Carstens, R.P.1    McKeehan, W.L.2    Garcia-Blanco, M.A.3
  • 37
    • 0344629426 scopus 로고    scopus 로고
    • A stem structure in fibroblast growth factor receptor 2 transcripts mediates cell-type-specific splicing by approximating intronic control elements
    • Baraniak, A.P., Lasda, E.L., Wagner, E.J. & Garcia-Blanco, M.A. A stem structure in fibroblast growth factor receptor 2 transcripts mediates cell-type-specific splicing by approximating intronic control elements. Mol. Cell Biol. 23, 9327-9337 (2003).
    • (2003) Mol. Cell Biol. , vol.23 , pp. 9327-9337
    • Baraniak, A.P.1    Lasda, E.L.2    Wagner, E.J.3    Garcia-Blanco, M.A.4
  • 38
    • 0037422575 scopus 로고    scopus 로고
    • Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
    • Lewis, B.P., Green, R.E. & Brenner, S.E. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc. Natl. Acad. Sci. USA 100, 189-192 (2003).
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 189-192
    • Lewis, B.P.1    Green, R.E.2    Brenner, S.E.3
  • 39
    • 0001329015 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay
    • Maquat, L.E. Nonsense-mediated mRNA decay. Curr. Biol. 12, R196-197 (2002).
    • (2002) Curr. Biol. , vol.12
    • Maquat, L.E.1
  • 40
    • 0035830918 scopus 로고    scopus 로고
    • The nonsense-mediated decay pathway and mutually exclusive expression of alternatively spliced FGFR2IIIb and -IIIc mRNAs
    • Jones, R.B. et al. The nonsense-mediated decay pathway and mutually exclusive expression of alternatively spliced FGFR2IIIb and -IIIc mRNAs. J. Biol. Chem. 276, 4158-4167 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 4158-4167
    • Jones, R.B.1
  • 41
    • 0345305414 scopus 로고    scopus 로고
    • Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay
    • Wagner, E.J. et al. Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay. RNA 9, 1552-1561 (2003).
    • (2003) RNA , vol.9 , pp. 1552-1561
    • Wagner, E.J.1
  • 42
    • 0346124413 scopus 로고    scopus 로고
    • Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay
    • Wollerton, M.C., Gooding, C., Wagner, E.J., Garcia-Blanco, M.A. & Smith, C.W. Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay. Mol. Cell 13, 91-100 (2004).
    • (2004) Mol. Cell , vol.13 , pp. 91-100
    • Wollerton, M.C.1    Gooding, C.2    Wagner, E.J.3    Garcia-Blanco, M.A.4    Smith, C.W.5
  • 43
    • 0035798601 scopus 로고    scopus 로고
    • TIA-1 and TIAR activate splicing of alternative exons with weak 5′ splice sites followed by a U-rich stretch on their own pre-mRNAs
    • Le Guiner, C. et al. TIA-1 and TIAR activate splicing of alternative exons with weak 5′ splice sites followed by a U-rich stretch on their own pre-mRNAs. J. Biol. Chem. 276, 40638-40646 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 40638-40646
    • Le Guiner, C.1
  • 44
    • 0037903275 scopus 로고    scopus 로고
    • Human Gene Mutation Database (HGMD): 2003 Update
    • Stenson, P.D. et al. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21, 577-581 (2003).
    • (2003) Hum. Mutat. , vol.21 , pp. 577-581
    • Stenson, P.D.1
  • 45
    • 0027198248 scopus 로고
    • Exon switching and activation of stromal and embryonic fibroblast growth factor (FGF)-FGF receptor genes in prostate epithelial cells accompany stromal independence and malignancy
    • Yan, G., Fukabori, Y., McBride, G., Nikolaropolous, S. & McKeehan, W.L. Exon switching and activation of stromal and embryonic fibroblast growth factor (FGF)-FGF receptor genes in prostate epithelial cells accompany stromal independence and malignancy. Mol. Cell Biol. 13, 4513-4522 (1993).
    • (1993) Mol. Cell Biol. , vol.13 , pp. 4513-4522
    • Yan, G.1    Fukabori, Y.2    McBride, G.3    Nikolaropolous, S.4    McKeehan, W.L.5
  • 46
    • 0019778340 scopus 로고
    • Beta+ thalassemia: Aberrant splicing results from a single point mutation in an intron
    • Busslinger, M., Moschonas, N. & Flavell, R.A. Beta+ thalassemia: aberrant splicing results from a single point mutation in an intron. Cell 27, 289-298 (1981).
    • (1981) Cell , vol.27 , pp. 289-298
    • Busslinger, M.1    Moschonas, N.2    Flavell, R.A.3
  • 47
    • 0005188076 scopus 로고
    • Base substitution in an intervening sequence of a beta+-thalassemic human globin gene
    • Spritz, R.A. et al. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc. Natl. Acad. Sci. USA 78, 2455-2459 (1981).
    • (1981) Proc. Natl. Acad. Sci. USA , vol.78 , pp. 2455-2459
    • Spritz, R.A.1
  • 48
    • 0141834020 scopus 로고    scopus 로고
    • Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
    • Helmken, C. et al. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum. Genet. 114, 11-21 (2003).
    • (2003) Hum. Genet. , vol.114 , pp. 11-21
    • Helmken, C.1
  • 49
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson, C.L., Hahnen, E., Androphy, E.J. & Wirth, B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA 96, 6307-6311 (1999).
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 50
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima, T. & Manley, J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 34, 460-463 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 51
    • 0842289003 scopus 로고    scopus 로고
    • An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
    • Singh, N.N., Androphy, E.J. & Singh, R.N. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem. Biophys. Res. Commun. 315, 381-388 (2004).
    • (2004) Biochem. Biophys. Res. Commun. , vol.315 , pp. 381-388
    • Singh, N.N.1    Androphy, E.J.2    Singh, R.N.3
  • 52
    • 0038146914 scopus 로고    scopus 로고
    • Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation
    • Mine, M. et al. Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. J. Biol. Chem. 278, 11768-11772 (2003).
    • (2003) J. Biol. Chem. , vol.278 , pp. 11768-11772
    • Mine, M.1
  • 53
    • 0019303961 scopus 로고
    • Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia
    • Maquat, L.E. et al. Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia. Proc. Natl. Acad. Sci. USA 77, 4287-4291 (1980).
    • (1980) Proc. Natl. Acad. Sci. USA , vol.77 , pp. 4287-4291
    • Maquat, L.E.1
  • 54
    • 0022376723 scopus 로고
    • Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene
    • Rees, D.J., Rizza, C.R. & Brownlee, G.G. Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene. Nature 316, 643-645 (1985).
    • (1985) Nature , vol.316 , pp. 643-645
    • Rees, D.J.1    Rizza, C.R.2    Brownlee, G.G.3
  • 55
    • 0037897328 scopus 로고    scopus 로고
    • Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II
    • Ryther, R.C. et al. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. Hum. Genet. 113, 140-148 (2003).
    • (2003) Hum. Genet. , vol.113 , pp. 140-148
    • Ryther, R.C.1
  • 56
    • 0037243203 scopus 로고    scopus 로고
    • Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature
    • Millar, D.S. et al. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Hum. Mutat. 21, 424-440 (2003).
    • (2003) Hum. Mutat. , vol.21 , pp. 424-440
    • Millar, D.S.1
  • 57
    • 0346243804 scopus 로고    scopus 로고
    • A muscleblind knockout model for myotonic dystrophy
    • Kanadia, R.N. et al. A muscleblind knockout model for myotonic dystrophy. Science 302, 1978-1980 (2003).
    • (2003) Science , vol.302 , pp. 1978-1980
    • Kanadia, R.N.1
  • 58
    • 0025825209 scopus 로고
    • A new variant of glycoprotein CD44 confers metastatic potential to rat carcinoma cells
    • Gunthert, U. et al. A new variant of glycoprotein CD44 confers metastatic potential to rat carcinoma cells. Cell 65, 13-24 (1991).
    • (1991) Cell , vol.65 , pp. 13-24
    • Gunthert, U.1
  • 59
    • 0037101633 scopus 로고    scopus 로고
    • Ischemia induces a translocation of the splicing factor tra2-beta 1 and changes alternative splicing patterns in the brain
    • Daoud, R. et al. Ischemia induces a translocation of the splicing factor tra2-beta 1 and changes alternative splicing patterns in the brain. J. Neurosci. 22, 5889-5899 (2002).
    • (2002) J. Neurosci. , vol.22 , pp. 5889-5899
    • Daoud, R.1
  • 61
    • 0035722764 scopus 로고    scopus 로고
    • 'CFTR-opathies': Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
    • Noone, P.G. & Knowles, M.R. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir. Res. 2, 328-332 (2001).
    • (2001) Respir. Res. , vol.2 , pp. 328-332
    • Noone, P.G.1    Knowles, M.R.2
  • 62
    • 0141615605 scopus 로고    scopus 로고
    • The phenotypic consequences at CFTR mutations
    • Rowntree, R.K. & Harris, A. The phenotypic consequences at CFTR mutations. Ann. Hum. Genet. 67, 471-485 (2003).
    • (2003) Ann. Hum. Genet. , vol.67 , pp. 471-485
    • Rowntree, R.K.1    Harris, A.2
  • 63
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu, C.S., Trapnell, B.C., Curristin, S., Cutting, G.R. & Crystal, R.G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Genet. 3, 151-156 (1993).
    • (1993) Nat. Genet. , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 64
    • 0031023970 scopus 로고    scopus 로고
    • Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
    • Teng, H. et al. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum. Mol. Genet. 6, 85-90 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 85-90
    • Teng, H.1
  • 65
    • 0030687683 scopus 로고    scopus 로고
    • Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
    • Mak, V., Jarvi, K.A., Zielenski, J., Durie, P. & Tsui, L.C. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum. Mol. Genet. 6, 2099-2107 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2099-2107
    • Mak, V.1    Jarvi, K.A.2    Zielenski, J.3    Durie, P.4    Tsui, L.C.5
  • 66
    • 0031660122 scopus 로고    scopus 로고
    • Testicular CFTR splice variants in patients with congenital absence of the vas deferens
    • Larriba, S. et al. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum. Mol. Genet. 7, 1739-1743 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1739-1743
    • Larriba, S.1
  • 68
    • 0028791190 scopus 로고
    • Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
    • Costes, B. et al. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur. J. Hum. Genet. 3, 285-293 (1995).
    • (1995) Eur. J. Hum. Genet. , vol.3 , pp. 285-293
    • Costes, B.1
  • 69
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    • Cuppens, H. et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Clin. Invest. 101, 487-496 (1998).
    • (1998) J. Clin. Invest. , vol.101 , pp. 487-496
    • Cuppens, H.1
  • 70
    • 0032756818 scopus 로고    scopus 로고
    • Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
    • Niksic, M., Romano, M., Buratti, E., Pagani, F. & Baralle, F.E. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum. Mol. Genet. 8, 2339-2349 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2339-2349
    • Niksic, M.1    Romano, M.2    Buratti, E.3    Pagani, F.4    Baralle, F.E.5
  • 71
    • 2342519825 scopus 로고    scopus 로고
    • An intronic polypyrimidine-rich element downstream of the donor site modulates CFTR exon 9 alternative splicing
    • published online 13 February (PMID: 14966131)
    • Zuccato, E., Buratti, E., Stuani, C., Baralle, F.E. & Pagani, F. An intronic polypyrimidine-rich element downstream of the donor site modulates CFTR exon 9 alternative splicing. J. Biol. Chem., published online 13 February 2004 (PMID: 14966131).
    • (2004) J. Biol. Chem.
    • Zuccato, E.1    Buratti, E.2    Stuani, C.3    Baralle, F.E.4    Pagani, F.5
  • 72
    • 0038712558 scopus 로고    scopus 로고
    • Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9
    • Pagani, F., Buratti, E., Stuani, C. & Baralle, F.E. Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J. Biol. Chem. 278, 26580-26588 (2003).
    • (2003) J. Biol. Chem. , vol.278 , pp. 26580-26588
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Baralle, F.E.4
  • 73
    • 0029066110 scopus 로고
    • Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs
    • Ou, S.H., Wu, F., Harrich, D., Garcia-Martinez, L.F. & Gaynor, R.B. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J. Virol. 69, 3584-3596 (1995).
    • (1995) J. Virol. , vol.69 , pp. 3584-3596
    • Ou, S.H.1    Wu, F.2    Harrich, D.3    Garcia-Martinez, L.F.4    Gaynor, R.B.5
  • 74
    • 0035965309 scopus 로고    scopus 로고
    • Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
    • Buratti, E. & Baralle, F.E. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J. Biol. Chem. 276, 36337-36343 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 36337-36343
    • Buratti, E.1    Baralle, F.E.2
  • 75
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • Buratti, E. et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J. 20, 1774-1784 (2001).
    • (2001) EMBO J. , vol.20 , pp. 1774-1784
    • Buratti, E.1
  • 76
    • 0033852601 scopus 로고    scopus 로고
    • Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
    • Nissim-Rafinia, M., Chiba-Falek, O., Sharon, G., Boss, A. & Kerem, B. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum. Mol. Genet. 9, 1771-1778 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1771-1778
    • Nissim-Rafinia, M.1    Chiba-Falek, O.2    Sharon, G.3    Boss, A.4    Kerem, B.5
  • 77
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
    • Pagani, F. et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J. Biol. Chem. 275, 21041-21047 (2003).
    • (2003) J. Biol. Chem. , vol.275 , pp. 21041-21047
    • Pagani, F.1
  • 78
    • 0032212814 scopus 로고    scopus 로고
    • The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C→T mutation
    • Chiba-Falek, O. et al. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C→T mutation. Genomics 53, 276-283 (1998).
    • (1998) Genomics , vol.53 , pp. 276-283
    • Chiba-Falek, O.1
  • 79
    • 0042420388 scopus 로고    scopus 로고
    • Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
    • Aznarez, I., Chan, E.M., Zielenski, J., Blencowe, B.J. & Tsui, L.C. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum. Mol. Genet. 12, 2031-2040 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2031-2040
    • Aznarez, I.1    Chan, E.M.2    Zielenski, J.3    Blencowe, B.J.4    Tsui, L.C.5
  • 80
    • 0036498543 scopus 로고    scopus 로고
    • Splicing regulation as a potential genetic modifier
    • Nissim-Rafinia, M. & Kerem, B. Splicing regulation as a potential genetic modifier. Trends Genet. 18, 123-127 (2002).
    • (2002) Trends Genet. , vol.18 , pp. 123-127
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 81
    • 0043244855 scopus 로고    scopus 로고
    • SCNM1, a putative RNA splicing factor that modifies disease severity in mice
    • Buchner, D.A., Trudeau, M. & Meisler, M.H. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-969 (2003).
    • (2003) Science , vol.301 , pp. 967-969
    • Buchner, D.A.1    Trudeau, M.2    Meisler, M.H.3
  • 82
    • 0141727605 scopus 로고    scopus 로고
    • Familial frontotemporal dementia: From gene discovery to clinical molecular diagnostics
    • Van Deerlin, V.M., Gill, L.H., Farmer, J.M., Trojanowski, J.Q. & Lee, V.M. Familial frontotemporal dementia: from gene discovery to clinical molecular diagnostics. Clin. Chem. 49, 1717-1725 (2003).
    • (2003) Clin. Chem. , vol.49 , pp. 1717-1725
    • Van Deerlin, V.M.1    Gill, L.H.2    Farmer, J.M.3    Trojanowski, J.Q.4    Lee, V.M.5
  • 83
    • 0002792366 scopus 로고
    • Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: Identification as the microtubule-associated protein tau
    • Goedert, M., Wischik, C.M., Crowther, R.A., Walker, J.E. & Klug, A. Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau. Proc. Natl. Acad. Sci. USA 85, 4051-4055 (1988).
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 4051-4055
    • Goedert, M.1    Wischik, C.M.2    Crowther, R.A.3    Walker, J.E.4    Klug, A.5
  • 84
    • 0024387161 scopus 로고
    • Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: Differential expression of tau protein mRNAs in human brain
    • Goedert, M., Spillantini, M.G., Potier, M.C., Ulrich, J. & Crowther, R.A. Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBO J. 8, 393-399 (1989).
    • (1989) EMBO J. , vol.8 , pp. 393-399
    • Goedert, M.1    Spillantini, M.G.2    Potier, M.C.3    Ulrich, J.4    Crowther, R.A.5
  • 85
    • 0024745894 scopus 로고
    • Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease
    • Geodert, M., Spillantini, M.G., Jakes, R., Rutherford, D. & Crowther, R.A. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3, 519-526 (1989).
    • (1989) Neuron , vol.3 , pp. 519-526
    • Geodert, M.1    Spillantini, M.G.2    Jakes, R.3    Rutherford, D.4    Crowther, R.A.5
  • 86
    • 0026488111 scopus 로고
    • Structure and novel exons of the human tau gene
    • Andreadis, A., Brown, W.M. & Kosik, K.S. Structure and novel exons of the human tau gene. Biochemistry 31, 10626-10633 (1992).
    • (1992) Biochemistry , vol.31 , pp. 10626-10633
    • Andreadis, A.1    Brown, W.M.2    Kosik, K.S.3
  • 87
    • 0024675418 scopus 로고
    • The microtubule binding domain of tau protein
    • Lee, G., Neve, R.L. & Kosik, K.S. The microtubule binding domain of tau protein. Neuron 2, 1615-1624 (1989).
    • (1989) Neuron , vol.2 , pp. 1615-1624
    • Lee, G.1    Neve, R.L.2    Kosik, K.S.3
  • 88
    • 0025600995 scopus 로고
    • Expression of separate isoforms of human tau protein: Correlation with the tau pattern in brain and effects on tubulin polymerization
    • Goedert, M. & Jakes, R. Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J. 9, 4225-4230 (1990).
    • (1990) EMBO J. , vol.9 , pp. 4225-4230
    • Goedert, M.1    Jakes, R.2
  • 89
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton, M. et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702-705 (1998).
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1
  • 90
    • 0032484089 scopus 로고    scopus 로고
    • Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
    • Hong, M. et al. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282, 1914-1917 (1998).
    • (1998) Science , vol.282 , pp. 1914-1917
    • Hong, M.1
  • 91
    • 0032560487 scopus 로고    scopus 로고
    • Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
    • Spillantini, M.G. et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. USA 95, 7737-7741 (1998).
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 7737-7741
    • Spillantini, M.G.1
  • 92
    • 0034528413 scopus 로고    scopus 로고
    • Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process
    • Goedert, M., Ghetti, B. & Spillantini, M.G. Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process. Ann. NY Acad. Sci. 920, 74-83 (2000).
    • (2000) Ann. NY Acad. Sci. , vol.920 , pp. 74-83
    • Goedert, M.1    Ghetti, B.2    Spillantini, M.G.3
  • 93
    • 0027948959 scopus 로고
    • Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex
    • Lynch, T. et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44, 1878-1884 (1994).
    • (1994) Neurology , vol.44 , pp. 1878-1884
    • Lynch, T.1
  • 94
    • 0036051016 scopus 로고    scopus 로고
    • A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17
    • Kowalska, A. et al. A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17. J. Appl. Genet. 43, 535-543 (2002).
    • (2002) J. Appl. Genet. , vol.43 , pp. 535-543
    • Kowalska, A.1
  • 95
    • 0037134098 scopus 로고    scopus 로고
    • Effects on splicing and protein function of three mutations in codon N296 of tau in vitro
    • Grover, A., DeTure, M., Yen, S.H. & Hutton, M. Effects on splicing and protein function of three mutations in codon N296 of tau in vitro. Neurosci. Lett. 323, 33-36 (2002).
    • (2002) Neurosci. Lett. , vol.323 , pp. 33-36
    • Grover, A.1    DeTure, M.2    Yen, S.H.3    Hutton, M.4
  • 96
    • 0033866455 scopus 로고    scopus 로고
    • A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: Clinical and pathological features
    • Tolnay, M. et al. A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features. Neuropathol. Appl. Neurobiol. 26, 368-378 (2000).
    • (2000) Neuropathol. Appl. Neurobiol. , vol.26 , pp. 368-378
    • Tolnay, M.1
  • 97
    • 0242317909 scopus 로고    scopus 로고
    • Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia
    • Stanford, P.M. et al. Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain 126, 814-826 (2003).
    • (2003) Brain , vol.126 , pp. 814-826
    • Stanford, P.M.1
  • 98
    • 0033545946 scopus 로고    scopus 로고
    • Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • D'Souza, I. et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl. Acad. Sci. USA 96, 5598-5603 (1999).
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 5598-5603
    • D'Souza, I.1
  • 99
    • 0033978622 scopus 로고    scopus 로고
    • Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia
    • Gao, Q.S. et al. Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia. J. Neurochem. 74, 490-500 (2000).
    • (2000) J. Neurochem. , vol.74 , pp. 490-500
    • Gao, Q.S.1
  • 100
    • 0034073995 scopus 로고    scopus 로고
    • Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
    • Jiang, Z., Cate, J., Kwon, J.M., Goate, A.M. & Wu, J.Y. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol. Cell. Biol. 20, 4036-4048 (2000).
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 4036-4048
    • Jiang, Z.1    Cate, J.2    Kwon, J.M.3    Goate, A.M.4    Wu, J.Y.5
  • 101
    • 0033529304 scopus 로고    scopus 로고
    • Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
    • Varani, L. et al. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. USA 96, 8229-8234 (1999).
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 8229-8234
    • Varani, L.1
  • 102
    • 0032573083 scopus 로고    scopus 로고
    • Pathogenic implications of mutations in the tau gene in pallido-pontonigral degeneration and related neurodegenerative disorders linked to chromosome 17
    • Clark, L.N. et al. Pathogenic implications of mutations in the tau gene in pallido-pontonigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc. Natl. Acad. Sci. USA 95, 13103-13107 (1998).
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 13103-13107
    • Clark, L.N.1
  • 103
    • 0038819945 scopus 로고    scopus 로고
    • Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta
    • Jiang, Z. et al. Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta. J. Biol. Chem. 278, 18997-19007 (2003).
    • (2003) J. Biol. Chem. , vol.278 , pp. 18997-19007
    • Jiang, Z.1
  • 104
    • 0033591225 scopus 로고    scopus 로고
    • 5′ Splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
    • Grover, A. et al. 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J. Biol. Chem. 274, 15134-15143 (1999).
    • (1999) J. Biol. Chem. , vol.274 , pp. 15134-15143
    • Grover, A.1
  • 105
    • 0142134358 scopus 로고    scopus 로고
    • The relevance of alternative RNA splicing to pharmacogenomics
    • Bracco, L. & Kearsey, J. The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotechnol. 21, 346-353 (2003).
    • (2003) Trends Biotechnol. , vol.21 , pp. 346-353
    • Bracco, L.1    Kearsey, J.2
  • 106
    • 0142258064 scopus 로고    scopus 로고
    • Variants of cyclooxygenase-1 and their roles in medicine
    • Simmons, D.L. Variants of cyclooxygenase-1 and their roles in medicine. Thromb. Res. 110, 265-268 (2003).
    • (2003) Thromb. Res. , vol.110 , pp. 265-268
    • Simmons, D.L.1
  • 107
    • 18344408145 scopus 로고    scopus 로고
    • Development and clinical application of COX-2-selective inhibitors for the treatment of osteoarthritis and rheumatoid arthritis
    • Bingham, C.O. 3rd Development and clinical application of COX-2-selective inhibitors for the treatment of osteoarthritis and rheumatoid arthritis. Cleve. Clin. J. Med. (suppl. 1) 69, S15-12 (2002).
    • (2002) Cleve. Clin. J. Med. , vol.69 , Issue.SUPPL. 1
    • Bingham III, C.O.1
  • 108
    • 0037108979 scopus 로고    scopus 로고
    • COX-3, a cyclooxygenase-1 variant inhibited by acetaminophen and other analgesic/antipyretic drugs: Cloning, structure, and expression
    • Chandrasekharan, N.V. et al. COX-3, a cyclooxygenase-1 variant inhibited by acetaminophen and other analgesic/antipyretic drugs: cloning, structure, and expression. Proc. Natl. Acad. Sci. USA 99, 13926-13931 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 13926-13931
    • Chandrasekharan, N.V.1
  • 110
    • 0015511847 scopus 로고
    • Inhibition of prostaglandin synthetase in brain explains the anti-pyretic activity of paracetamol (4-acetamidophenol)
    • Flower, R.J. & Vane, J.R. Inhibition of prostaglandin synthetase in brain explains the anti-pyretic activity of paracetamol (4-acetamidophenol). Nature 240, 410-411 (1972).
    • (1972) Nature , vol.240 , pp. 410-411
    • Flower, R.J.1    Vane, J.R.2
  • 112
    • 0034327218 scopus 로고    scopus 로고
    • Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
    • Baron-Delage, S., Abadie, A., Echaniz-Laguna, A., Melki, J. & Beretta, L. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. Mol. Med. 6, 957-968 (2000).
    • (2000) Mol. Med. , vol.6 , pp. 957-968
    • Baron-Delage, S.1    Abadie, A.2    Echaniz-Laguna, A.3    Melki, J.4    Beretta, L.5
  • 113
    • 0141506887 scopus 로고    scopus 로고
    • Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
    • Brichta, L. et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum. Mol. Genet. 12, 2481-2489 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2481-2489
    • Brichta, L.1
  • 114
    • 0035859952 scopus 로고    scopus 로고
    • Treatment of spinal muscular atrophy by sodium butyrate
    • Chang, J.G. et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc. Natl. Acad. Sci. USA 98, 9808-9813 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 9808-9813
    • Chang, J.G.1
  • 115
    • 0037925520 scopus 로고    scopus 로고
    • The histone deacetylase inhibitor valproic acid selectively induces proteasomal degradation of HDAC2
    • Kramer, O.H. et al. The histone deacetylase inhibitor valproic acid selectively induces proteasomal degradation of HDAC2. EMBO J. 22, 3411-3420 (2003).
    • (2003) EMBO J. , vol.22 , pp. 3411-3420
    • Kramer, O.H.1
  • 116
    • 0035094512 scopus 로고    scopus 로고
    • Pharmacologic induction of fetal hemoglobin: Raising the therapeutic bar in sickle cell disease
    • Atweh, G.F. & Schechter, A.N. Pharmacologic induction of fetal hemoglobin: raising the therapeutic bar in sickle cell disease. Curr. Opin. Hematol. 8, 123-130 (2001).
    • (2001) Curr. Opin. Hematol. , vol.8 , pp. 123-130
    • Atweh, G.F.1    Schechter, A.N.2
  • 117
    • 0242499953 scopus 로고    scopus 로고
    • New CNS-active drugs which are second-generation valproic acid: Can they lead to the development of a magic bullet?
    • Isoherranen, N., Yagen, B. & Bialer, M. New CNS-active drugs which are second-generation valproic acid: can they lead to the development of a magic bullet? Curr. Opin. Neurol. 16, 203-211 (2003).
    • (2003) Curr. Opin. Neurol. , vol.16 , pp. 203-211
    • Isoherranen, N.1    Yagen, B.2    Bialer, M.3
  • 118
    • 0042346439 scopus 로고    scopus 로고
    • Catalytic topoisomerase II inhibitors in cancer therapy
    • Larsen, A.K., Escargueil, A.E. & Skladanowski, A. Catalytic topoisomerase II inhibitors in cancer therapy. Pharmacol. Ther. 99, 167-181 (2003).
    • (2003) Pharmacol. Ther. , vol.99 , pp. 167-181
    • Larsen, A.K.1    Escargueil, A.E.2    Skladanowski, A.3
  • 119
    • 0035891862 scopus 로고    scopus 로고
    • Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
    • Andreassi, C. et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum. Mol. Genet. 10, 2841-2849 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2841-2849
    • Andreassi, C.1
  • 120
    • 2342655502 scopus 로고    scopus 로고
    • Manipulation of alternative splicing by a newly developed inhibitor of Clks
    • published on line 8 March (PMID: 15010457)
    • Muraki, M. et al. Manipulation of alternative splicing by a newly developed inhibitor of Clks. J. Biol. Chem., published on line 8 March 2004 (PMID: 15010457).
    • (2004) J. Biol. Chem.
    • Muraki, M.1
  • 121
    • 0037066727 scopus 로고    scopus 로고
    • De novo ceramide regulates the alternative splicing of caspase 9 and Bcl-x in A549 lung adenocarcinoma cells. Dependence on protein phosphatase-1
    • Chalfant, C.E. et al. De novo ceramide regulates the alternative splicing of caspase 9 and Bcl-x in A549 lung adenocarcinoma cells. Dependence on protein phosphatase-1. J. Biol. Chem. 277, 12587-12595 (2002).
    • (2002) J. Biol. Chem. , vol.277 , pp. 12587-12595
    • Chalfant, C.E.1
  • 122
    • 1442281514 scopus 로고    scopus 로고
    • Differential recruitment of nuclear receptor coactivators may determine alternative RNA splice site choice in target genes
    • Auboeuf, D. et al. Differential recruitment of nuclear receptor coactivators may determine alternative RNA splice site choice in target genes. Proc. Natl. Acad. Sci. USA 101, 2270-2274 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 2270-2274
    • Auboeuf, D.1
  • 123
    • 0036202668 scopus 로고    scopus 로고
    • A randomized controlled clinical trial of intravitreous fomivirsen for treatment of newly diagnosed peripheral cytomegalovirus retinitis in patients with AIDS
    • A randomized controlled clinical trial of intravitreous fomivirsen for treatment of newly diagnosed peripheral cytomegalovirus retinitis in patients with AIDS. Am. J. Ophthalmol. 133, 467-474 (2002).
    • (2002) Am. J. Ophthalmol. , vol.133 , pp. 467-474
  • 124
    • 1542269161 scopus 로고    scopus 로고
    • Progress in antisense technology
    • Crooke, S.T. Progress in antisense technology. Annu. Rev. Med. 55, 61-95 (2004).
    • (2004) Annu. Rev. Med. , vol.55 , pp. 61-95
    • Crooke, S.T.1
  • 125
    • 0141497030 scopus 로고    scopus 로고
    • Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing
    • Sazani, P. & Kole, R. Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing. J. Clin. Invest. 112, 481-486 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 481-486
    • Sazani, P.1    Kole, R.2
  • 126
    • 0041582974 scopus 로고
    • Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide
    • Zamecnik, P.C. & Stephenson, M.L. Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide. Proc. Natl. Acad. Sci. USA 75, 280-284 (1978).
    • (1978) Proc. Natl. Acad. Sci. USA , vol.75 , pp. 280-284
    • Zamecnik, P.C.1    Stephenson, M.L.2
  • 127
    • 0005772676 scopus 로고
    • Inhibition of Rous sarcoma viral RNA translation by a specific oligodeoxyribonucleotide
    • Stephenson, M.L. & Zamecnik, P.C. Inhibition of Rous sarcoma viral RNA translation by a specific oligodeoxyribonucleotide. Proc. Natl. Acad. Sci. USA 75, 285-288 (1978).
    • (1978) Proc. Natl. Acad. Sci. USA , vol.75 , pp. 285-288
    • Stephenson, M.L.1    Zamecnik, P.C.2
  • 128
    • 0034662881 scopus 로고    scopus 로고
    • Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients
    • Lacerra, G. et al. Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc. Natl. Acad. Sci. USA 97, 9591-9596 (2000).
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 9591-9596
    • Lacerra, G.1
  • 129
    • 0027284424 scopus 로고
    • Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides
    • Dominski, Z. & Kole, R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc. Natl. Acad. Sci. USA 90, 8673-8677 (1993).
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 8673-8677
    • Dominski, Z.1    Kole, R.2
  • 130
    • 0037217988 scopus 로고    scopus 로고
    • High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA
    • Vacek, M.M. et al. High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA. Blood 101, 104-111 (2003).
    • (2003) Blood , vol.101 , pp. 104-111
    • Vacek, M.M.1
  • 131
    • 0032574744 scopus 로고    scopus 로고
    • Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs
    • Gorman, L., Suter, D., Emerick, V., Schumperli, D. & Kole, R. Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs. Proc. Natl. Acad. Sci. USA 95, 4929-4934 (1998).
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 4929-4934
    • Gorman, L.1    Suter, D.2    Emerick, V.3    Schumperli, D.4    Kole, R.5
  • 132
    • 0037047111 scopus 로고    scopus 로고
    • Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells
    • De Angelis, F.G. et al. Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells. Proc. Natl. Acad. Sci. USA 99, 9456-9461 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 9456-9461
    • De Angelis, F.G.1
  • 133
    • 0033579478 scopus 로고    scopus 로고
    • Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides
    • Friedman, K.J. et al. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J. Biol. Chem. 274, 36193-36199 (1999).
    • (1999) J. Biol. Chem. , vol.274 , pp. 36193-36199
    • Friedman, K.J.1
  • 134
    • 0031800293 scopus 로고    scopus 로고
    • Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides
    • Dunckley, M.G., Manoharan, M., Villiet, P., Eperon, I.C. & Dickson, G. Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Hum. Mol. Genet. 7, 1083-1090 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1083-1090
    • Dunckley, M.G.1    Manoharan, M.2    Villiet, P.3    Eperon, I.C.4    Dickson, G.5
  • 135
    • 0033044501 scopus 로고    scopus 로고
    • Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
    • Wilton, S.D. et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul. Disord. 9, 330-338 (1999).
    • (1999) Neuromuscul. Disord. , vol.9 , pp. 330-338
    • Wilton, S.D.1
  • 136
    • 0003826861 scopus 로고    scopus 로고
    • Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides
    • Taylor, J.K., Zhang, Q.Q., Wyatt, J.R. & Dean, N.M. Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides. Nat. Biotechnol. 17, 1097-1100 (1999).
    • (1999) Nat. Biotechnol. , vol.17 , pp. 1097-1100
    • Taylor, J.K.1    Zhang, Q.Q.2    Wyatt, J.R.3    Dean, N.M.4
  • 137
    • 0035800055 scopus 로고    scopus 로고
    • Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-alpha chain
    • Karras, J.G., Maier, M.A., Lu, T., Watt, A. & Manoharan, M. Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-alpha chain. Biochemistry 40, 7853-7859 (2001).
    • (2001) Biochemistry , vol.40 , pp. 7853-7859
    • Karras, J.G.1    Maier, M.A.2    Lu, T.3    Watt, A.4    Manoharan, M.5
  • 138
    • 0035900725 scopus 로고    scopus 로고
    • Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17
    • Kalbfuss, B., Mabon, S.A. & Misteli, T. Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J. Biol. Chem. 276, 42986-42993 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 42986-42993
    • Kalbfuss, B.1    Mabon, S.A.2    Misteli, T.3
  • 139
    • 0036903132 scopus 로고    scopus 로고
    • Systemically delivered antisense oligomers upregulate gene expression in mouse tissues
    • Sazani, P. et al. Systemically delivered antisense oligomers upregulate gene expression in mouse tissues. Nat. Biotechnol. 20, 1228-1233 (2002).
    • (2002) Nat. Biotechnol. , vol.20 , pp. 1228-1233
    • Sazani, P.1
  • 140
    • 0035793047 scopus 로고    scopus 로고
    • Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
    • Mann, C.J. et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl. Acad. Sci. USA 98, 42-47 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 42-47
    • Mann, C.J.1
  • 141
    • 0042536463 scopus 로고    scopus 로고
    • Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse
    • Lu, Q.L. et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat. Med. 9, 1009-1014 (2003).
    • (2003) Nat. Med. , vol.9 , pp. 1009-1014
    • Lu, Q.L.1
  • 142
    • 0346749521 scopus 로고    scopus 로고
    • Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides
    • Villemaire, J., Dion, I., Elela, S.A. & Chabot, B. Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides. J. Biol. Chem. 278, 50331-50339 (2003).
    • (2003) J. Biol. Chem. , vol.278 , pp. 50331-50339
    • Villemaire, J.1    Dion, I.2    Elela, S.A.3    Chabot, B.4
  • 143
    • 0037388256 scopus 로고    scopus 로고
    • Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
    • Skordis, L.A., Dunckley, M.G., Yue, B., Eperon, I.C. & Muntoni, F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc. Natl. Acad. Sci. USA 100, 4114-4119 (2003).
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 4114-4119
    • Skordis, L.A.1    Dunckley, M.G.2    Yue, B.3    Eperon, I.C.4    Muntoni, F.5
  • 144
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • Cartegni, L. & Krainer, A.R. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat. Struct. Biol. 10, 120-125 (2003).
    • (2003) Nat. Struct. Biol. , vol.10 , pp. 120-125
    • Cartegni, L.1    Krainer, A.R.2
  • 145
    • 0032038213 scopus 로고    scopus 로고
    • Arginine/serine-rich domains of SR proteins can function as activators of pre-mRNA splicing
    • Graveley, B.R. & Maniatis, T. Arginine/serine-rich domains of SR proteins can function as activators of pre-mRNA splicing. Mol. Cell 1, 765-771 (1998).
    • (1998) Mol. Cell , vol.1 , pp. 765-771
    • Graveley, B.R.1    Maniatis, T.2
  • 146
    • 0032538791 scopus 로고    scopus 로고
    • A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers
    • Graveley, B.R., Hertel, K.J. & Maniatis, T. A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers. EMBO J. 17, 6747-6756 (1998).
    • (1998) EMBO J. , vol.17 , pp. 6747-6756
    • Graveley, B.R.1    Hertel, K.J.2    Maniatis, T.3
  • 147
    • 0038265106 scopus 로고    scopus 로고
    • Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?
    • discussion 233-224
    • Buratti, E., Baralle, F.E. & Pagani, F. Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? Trends Mol. Med. 9, 229-232; discussion 233-224 (2003).
    • (2003) Trends Mol. Med. , vol.9 , pp. 229-232
    • Buratti, E.1    Baralle, F.E.2    Pagani, F.3
  • 148
    • 0038603946 scopus 로고    scopus 로고
    • Response to Buratti et al.: Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?
    • Eperon, I.C. & Muntoni, F. Response to Buratti et al.: Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? Trends Mol. Med. 9, 233-234 (2003).
    • (2003) Trends Mol. Med. , vol.9 , pp. 233-234
    • Eperon, I.C.1    Muntoni, F.2
  • 149
    • 0142071068 scopus 로고    scopus 로고
    • Putting some spine into alternative splicing
    • Khoo, B., Akker, S.A. & Chew, S.L. Putting some spine into alternative splicing. Trends Biotechnol. 21, 328-330 (2003).
    • (2003) Trends Biotechnol. , vol.21 , pp. 328-330
    • Khoo, B.1    Akker, S.A.2    Chew, S.L.3
  • 150
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu, Q. & Dreyfuss, G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15, 3555-3565 (1996).
    • (1996) EMBO J. , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 151
    • 8544283791 scopus 로고    scopus 로고
    • The survival motor neuron protein in spinal muscular atrophy
    • Coovert, D.D. et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6, 1205-1214 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1205-1214
    • Coovert, D.D.1
  • 152
    • 0035502474 scopus 로고    scopus 로고
    • Modification of alternative splicing by antisense oligonucleotides as a potential chemotherapy for cancer and other diseases
    • Mercatante, D.R., Sazani, P. & Kole, R. Modification of alternative splicing by antisense oligonucleotides as a potential chemotherapy for cancer and other diseases. Curr. Cancer Drug Targets 1, 211-230 (2001).
    • (2001) Curr. Cancer Drug Targets , vol.1 , pp. 211-230
    • Mercatante, D.R.1    Sazani, P.2    Kole, R.3
  • 153
    • 0346216853 scopus 로고    scopus 로고
    • Local gene knockdown in the brain using viral-mediated RNA interference
    • Hommel, J.D., Sears, R.M., Georgescu, D., Simmons, D.L. & DiLeone, R.J. Local gene knockdown in the brain using viral-mediated RNA interference. Nat. Med. 9, 1539-1544 (2003).
    • (2003) Nat. Med. , vol.9 , pp. 1539-1544
    • Hommel, J.D.1    Sears, R.M.2    Georgescu, D.3    Simmons, D.L.4    DiLeone, R.J.5
  • 154
    • 0037686295 scopus 로고    scopus 로고
    • Killing the messenger: Short RNAs that silence gene expression
    • Dykxhoorn, D.M., Novina, C.D. & Sharp, P.A. Killing the messenger: short RNAs that silence gene expression. Nat. Rev. Mol. Cell Biol. 4, 457-467 (2003).
    • (2003) Nat. Rev. Mol. Cell Biol. , vol.4 , pp. 457-467
    • Dykxhoorn, D.M.1    Novina, C.D.2    Sharp, P.A.3
  • 155
    • 0242317385 scopus 로고    scopus 로고
    • Small RNA: Can RNA interference be exploited for therapy?
    • Wall, N.R. & Shi, Y. Small RNA: can RNA interference be exploited for therapy? Lancet 362, 1401-1403 (2003).
    • (2003) Lancet , vol.362 , pp. 1401-1403
    • Wall, N.R.1    Shi, Y.2
  • 156
    • 0036276110 scopus 로고    scopus 로고
    • Exon-specific RNAi: A tool for dissecting the functional relevance of alternative splicing
    • Celotto, A.M. & Graveley, B.R. Exon-specific RNAi: a tool for dissecting the functional relevance of alternative splicing. RNA 8, 718-724 (2002).
    • (2002) RNA , vol.8 , pp. 718-724
    • Celotto, A.M.1    Graveley, B.R.2
  • 157
    • 0141608626 scopus 로고    scopus 로고
    • Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing
    • Garcia-Blanco, M.A. Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing. J. Clin. Invest. 112, 474-480 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 474-480
    • Garcia-Blanco, M.A.1
  • 158
    • 0037062920 scopus 로고    scopus 로고
    • Emerging clinical applications of RNA
    • Sullenger, B.A. & Gilboa, E. Emerging clinical applications of RNA. Nature 418, 252-258 (2002).
    • (2002) Nature , vol.418 , pp. 252-258
    • Sullenger, B.A.1    Gilboa, E.2
  • 160
    • 0036137663 scopus 로고    scopus 로고
    • Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
    • Liu, X. et al. Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat. Biotechnol. 20, 47-52 (2002).
    • (2002) Nat. Biotechnol. , vol.20 , pp. 47-52
    • Liu, X.1
  • 161
    • 0042388694 scopus 로고    scopus 로고
    • Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing
    • Chao, H. et al. Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. Nat. Med. 9, 1015-1019 (2003).
    • (2003) Nat. Med. , vol.9 , pp. 1015-1019
    • Chao, H.1
  • 162
    • 0027987902 scopus 로고
    • Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing
    • Sullenger, B.A. & Cech, T.R. Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing. Nature 371, 619-622 (1994).
    • (1994) Nature , vol.371 , pp. 619-622
    • Sullenger, B.A.1    Cech, T.R.2
  • 163
    • 0034670090 scopus 로고    scopus 로고
    • RNA repair: A novel approach to gene therapy
    • Watanabe, T. & Sullenger, B.A. RNA repair: a novel approach to gene therapy. Adv. Drug Deliv. Rev. 44, 109-118 (2000).
    • (2000) Adv. Drug Deliv. Rev. , vol.44 , pp. 109-118
    • Watanabe, T.1    Sullenger, B.A.2
  • 164
    • 0036951195 scopus 로고    scopus 로고
    • Functional repair of a mutant chloride channel using a trans-splicing ribozyme
    • Rogers, C.S., Vanoye, C.G., Sullenger, B.A. & George, A.L. Jr. Functional repair of a mutant chloride channel using a trans-splicing ribozyme. J. Clin. Invest. 110, 1783-1789 (2002).
    • (2002) J. Clin. Invest. , vol.110 , pp. 1783-1789
    • Rogers, C.S.1    Vanoye, C.G.2    Sullenger, B.A.3    George Jr., A.L.4
  • 165
    • 0347292811 scopus 로고    scopus 로고
    • An archaeal endoribonuclease catalyzes cis- and trans-nonspliceosomal splicing in mouse cells
    • Deidda, G., Rossi, N. & Tocchini-Valentini, G.P. An archaeal endoribonuclease catalyzes cis- and trans-nonspliceosomal splicing in mouse cells. Nat. Biotechnol. 21, 1499-1504 (2003).
    • (2003) Nat. Biotechnol. , vol.21 , pp. 1499-1504
    • Deidda, G.1    Rossi, N.2    Tocchini-Valentini, G.P.3
  • 166
    • 0030662379 scopus 로고    scopus 로고
    • Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice
    • Roberts, R. et al. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Natl. Acad. Sci. USA 94, 13221-13226 (1997).
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 13221-13226
    • Roberts, R.1
  • 167
    • 0032906538 scopus 로고    scopus 로고
    • Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
    • Lu, X., Timchenko, N.A. & Timchenko, L.T. Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum. Mol. Genet. 8, 53-60 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 53-60
    • Lu, X.1    Timchenko, N.A.2    Timchenko, L.T.3
  • 168
    • 0034053964 scopus 로고    scopus 로고
    • TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins
    • Yang, L., Embree, L.J. & Hickstein, D.D. TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins. Mol. Cell Biol. 20, 3345-3354 (2000).
    • (2000) Mol. Cell Biol. , vol.20 , pp. 3345-3354
    • Yang, L.1    Embree, L.J.2    Hickstein, D.D.3
  • 169
    • 0027227651 scopus 로고
    • Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma
    • Crozat, A., Aman, P., Mandahl, N. & Ron, O. Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. Nature 363, 640-644 (1993).
    • (1993) Nature , vol.363 , pp. 640-644
    • Crozat, A.1    Aman, P.2    Mandahl, N.3    Ron, O.4
  • 170
    • 0028200915 scopus 로고
    • An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation
    • Ichikawa, H., Shimizu, K., Hayashi, Y. & Ohki, M. An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation. Cancer Res. 54, 2865-2868 (1994).
    • (1994) Cancer Res. , vol.54 , pp. 2865-2868
    • Ichikawa, H.1    Shimizu, K.2    Hayashi, Y.3    Ohki, M.4
  • 171
    • 0028675873 scopus 로고
    • Alzheimer's disease-like phosphorylation of the microtubule-associated protein tau by glycogen synthase kinase-3 in transfected mammalian cells
    • Lovestone, S. et al. Alzheimer's disease-like phosphorylation of the microtubule-associated protein tau by glycogen synthase kinase-3 in transfected mammalian cells. Curr. Biol. 4, 1077-1086 (1994).
    • (1994) Curr. Biol. , vol.4 , pp. 1077-1086
    • Lovestone, S.1
  • 172
    • 19244367909 scopus 로고    scopus 로고
    • Glycogen synthase kinase-3 plays a crucial role in tau exon 10 splicing and intranuclear distribution of SC35. Implications for Alzheimer's disease
    • Hernandez, F. et al. Glycogen synthase kinase-3 plays a crucial role in tau exon 10 splicing and intranuclear distribution of SC35. Implications for Alzheimer's disease. J. Biol. Chem. 279, 3801-3806 (2004).
    • (2004) J. Biol. Chem. , vol.279 , pp. 3801-3806
    • Hernandez, F.1
  • 173
    • 0037636434 scopus 로고    scopus 로고
    • Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease
    • Manabe, T. et al. Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease. Cell Death Differ. 10, 698-708 (2003).
    • (2003) Cell Death Differ. , vol.10 , pp. 698-708
    • Manabe, T.1
  • 174
    • 0034282958 scopus 로고    scopus 로고
    • Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
    • Miller, J.W. et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19, 4439-4448 (2000).
    • (2000) EMBO J. , vol.19 , pp. 4439-4448
    • Miller, J.W.1
  • 175
    • 0027374048 scopus 로고
    • Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system
    • Buckanovich, R.J., Posner, J.B. & Darnell, R.B. Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system. Neuron 11, 657-672 (1993).
    • (1993) Neuron , vol.11 , pp. 657-672
    • Buckanovich, R.J.1    Posner, J.B.2    Darnell, R.B.3
  • 176
    • 0033757702 scopus 로고    scopus 로고
    • Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability
    • Jensen, K.B. et al. Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron 25, 359-371 (2000).
    • (2000) Neuron , vol.25 , pp. 359-371
    • Jensen, K.B.1
  • 177
    • 18244377189 scopus 로고    scopus 로고
    • Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    • Chakarova, C.F. et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11, 87-92 (2002).
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 87-92
    • Chakarova, C.F.1
  • 178
    • 17944379537 scopus 로고    scopus 로고
    • A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
    • Vithana, E.N. et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell 8, 375-381 (2001).
    • (2001) Mol. Cell , vol.8 , pp. 375-381
    • Vithana, E.N.1
  • 179
    • 0035878541 scopus 로고    scopus 로고
    • Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
    • McKie, A.B. et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum. Mol. Genet. 10, 1555-1562 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1555-1562
    • McKie, A.B.1
  • 180
    • 0027715823 scopus 로고
    • A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis
    • Ma, K. et al. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287-1295 (1993).
    • (1993) Cell , vol.75 , pp. 1287-1295
    • Ma, K.1
  • 181
    • 0034701246 scopus 로고    scopus 로고
    • RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing
    • Venables, J.P. et al. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. Hum. Mol. Genet. 9, 685-694 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 685-694
    • Venables, J.P.1
  • 182
    • 0027437244 scopus 로고
    • Novel nuclear autoantigen with splicing factor motifs identified with antibody from hepatocellular carcinoma
    • Imai, H., Chan, E.K., Kiyosawa, K., Fu, X.D. & Tan, E.M. Novel nuclear autoantigen with splicing factor motifs identified with antibody from hepatocellular carcinoma. J. Clin. Invest. 92, 2419-2426 (1993).
    • (1993) J. Clin. Invest. , vol.92 , pp. 2419-2426
    • Imai, H.1    Chan, E.K.2    Kiyosawa, K.3    Fu, X.D.4    Tan, E.M.5
  • 183
    • 9844230424 scopus 로고    scopus 로고
    • Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma
    • Clark, J. et al. Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma. Oncogene 15, 2233-2239 (1997).
    • (1997) Oncogene , vol.15 , pp. 2233-2239
    • Clark, J.1
  • 184
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165 (1995).
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1
  • 185
    • 0037930098 scopus 로고    scopus 로고
    • P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome
    • Fomenkov, A. et al. P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J. Biol. Chem. 278, 23906-23914 (2003).
    • (2003) J. Biol. Chem. , vol.278 , pp. 23906-23914
    • Fomenkov, A.1
  • 186
    • 0035400076 scopus 로고    scopus 로고
    • SMN2-deletion in childhood-onset spinal muscular atrophy
    • Srivastava, S. et al. SMN2-deletion in childhood-onset spinal muscular atrophy. Am. J. Med. Genet. 101, 198-202 (2001).
    • (2001) Am. J. Med. Genet. , vol.101 , pp. 198-202
    • Srivastava, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.