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Volumn 21, Issue 11, 2002, Pages 803-818

Defects in pre-mRNA processing as causes of and predisposition to diseases

Author keywords

[No Author keywords available]

Indexed keywords

ACLARUBICIN; ADENOSINE DEAMINASE; ANTISENSE OLIGODEOXYNUCLEOTIDE; BETA GLOBIN; CD45 ANTIGEN; CEREBROSIDE SULFATASE; CHLORAMPHENICOL; CYTOCHROME P450; CYTOCHROME P450 27; FIBRILLIN; FUMARYLACETOACETASE; GENTAMICIN; INTEGRIN; MESSENGER RNA PRECURSOR; NEOMYCIN; OLIGONUCLEOTIDE; PORPHOBILINOGEN DEAMINASE; PYRUVATE DEHYDROGENASE; RIBOZYME; TETRACYCLINE; UNCLASSIFIED DRUG;

EID: 0036927671     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/104454902320908450     Document Type: Review
Times cited : (71)

References (189)
  • 1
    • 0028843647 scopus 로고
    • Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia
    • Akbarian, S., Smith, M.A., and Jones, E.G. (1995). Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia. Brain Res. 699, 297-304.
    • (1995) Brain Res. , vol.699 , pp. 297-304
    • Akbarian, S.1    Smith, M.A.2    Jones, E.G.3
  • 3
    • 0034653768 scopus 로고    scopus 로고
    • Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA
    • Ars, E., Serra, E., De la Luna, S., Estivill, X., and Lazaro, C. (2000a). Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res. 28, 1307-1312.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 1307-1312
    • Ars, E.1    Serra, E.2    De la Luna, S.3    Estivill, X.4    Lazaro, C.5
  • 4
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars, E., Serra, E., Garcia, J., Kruyer, H., Gaona, A., Lazaro, C., and Estivill, X. (2000b). Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet. 9, 237-247.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3    Kruyer, H.4    Gaona, A.5    Lazaro, C.6    Estivill, X.7
  • 5
    • 0035997389 scopus 로고    scopus 로고
    • RNA editing by adenosine deaminases that act on RNA
    • BASS, B.L. (2002). RNA editing by adenosine deaminases that act on RNA. Annu. Rev. Biochem. 71, 817-846.
    • (2002) Annu. Rev. Biochem. , vol.71 , pp. 817-846
    • Bass, B.L.1
  • 6
    • 0034703285 scopus 로고    scopus 로고
    • RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia
    • Beghini, A., Ripamonti, C.B., Peterlongo, P., Roversi, G., Cairoli, R., Morra, E., and Larizza, L. (2000). RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia. Hum. Mol. Genet. 9, 2297-2304.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2297-2304
    • Beghini, A.1    Ripamonti, C.B.2    Peterlongo, P.3    Roversi, G.4    Cairoli, R.5    Morra, E.6    Larizza, L.7
  • 7
    • 0033152538 scopus 로고    scopus 로고
    • Coupling RNA polymerase II transcription with pre-mRNA processing
    • Bentley, D. (1999). Coupling RNA polymerase II transcription with pre-mRNA processing. Curr. Opin. Cell. Biol. 11, 347-351.
    • (1999) Curr. Opin. Cell. Biol. , vol.11 , pp. 347-351
    • Bentley, D.1
  • 11
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • Buratti, E., Dork, T., Zuccato, E., Pagani, F., Romano, M., and Baralle, F.E. (2001). Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J. 20, 1774-1784.
    • (2001) EMBO J. , vol.20 , pp. 1774-1784
    • Buratti, E.1    Dork, T.2    Zuccato, E.3    Pagani, F.4    Romano, M.5    Baralle, F.E.6
  • 12
    • 0036534129 scopus 로고    scopus 로고
    • Alternative splicing: Multiple control mechanisms and involvement in human disease
    • Caceres, J.F., and Kornblihtt, A.R. (2002). Alternative splicing: Multiple control mechanisms and involvement in human disease. Trends Genet. 18, 186-193.
    • (2002) Trends Genet. , vol.18 , pp. 186-193
    • Caceres, J.F.1    Kornblihtt, A.R.2
  • 13
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni, L., Chew, S.L., and Krainer, A.R. (2002). Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat. Rev. Genet. 3, 285-298.
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 14
    • 0035313837 scopus 로고    scopus 로고
    • Gene silencing by double-stranded RNA
    • Carthew, R.W. (2001). Gene silencing by double-stranded RNA. Curr. Opin. Cell Biol. 13, 244-248.
    • (2001) Curr. Opin. Cell Biol. , vol.13 , pp. 244-248
    • Carthew, R.W.1
  • 15
    • 0035379806 scopus 로고    scopus 로고
    • Increased expression of neuronal nitric oxide synthease spliced variants in reactive astrocytes of amyotrophic lateral sclerosis human spinal cord
    • Catania, M.V., Aronica, E., Yankaya, B., and Troost, D. (2001). Increased expression of neuronal nitric oxide synthease spliced variants in reactive astrocytes of amyotrophic lateral sclerosis human spinal cord. J. Neurosci. 21, RC148.
    • (2001) J. Neurosci. , vol.21
    • Catania, M.V.1    Aronica, E.2    Yankaya, B.3    Troost, D.4
  • 16
    • 0036276110 scopus 로고    scopus 로고
    • Exon-specific RNAi: A tool for dissecting the functional relevance of alternative splicing
    • Celotto, A.M., and Graveley, B.R. (2002). Exon-specific RNAi: A tool for dissecting the functional relevance of alternative splicing. RNA 8, 718-724.
    • (2002) RNA , vol.8 , pp. 718-724
    • Celotto, A.M.1    Graveley, B.R.2
  • 18
    • 0032584276 scopus 로고    scopus 로고
    • Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients
    • Chen, W., Kubota, S., Teramoto, T., Nishimura, Y., Yonemoto, K., and Seyama, Y. (1998). Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Biochemistry 37, 4420-4428.
    • (1998) Biochemistry , vol.37 , pp. 4420-4428
    • Chen, W.1    Kubota, S.2    Teramoto, T.3    Nishimura, Y.4    Yonemoto, K.5    Seyama, Y.6
  • 19
    • 0034670153 scopus 로고    scopus 로고
    • RNA editing: Cytidine to uridine conversion in apolipoprotein B mRNA
    • Chester, A., Scott, J., Anant, S., and Navaratnam, N. (2000). RNA editing: Cytidine to uridine conversion in apolipoprotein B mRNA. Biochim. Biophys. Acta 1494, 1-13.
    • (2000) Biochim. Biophys. Acta , vol.1494 , pp. 1-13
    • Chester, A.1    Scott, J.2    Anant, S.3    Navaratnam, N.4
  • 20
    • 0030772379 scopus 로고    scopus 로고
    • The regulation of splicesite selection, and its role in human disease
    • Cooper, T.A., and Mattox, W. (1997). The regulation of splicesite selection, and its role in human disease. Am. J. Hum. Genet. 61, 259-266.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 259-266
    • Cooper, T.A.1    Mattox, W.2
  • 22
    • 0029980129 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene
    • Couch, F.J., and Weber, B.L. (1996). Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum. Mutat. 8, 8-18.
    • (1996) Hum. Mutat. , vol.8 , pp. 8-18
    • Couch, F.J.1    Weber, B.L.2
  • 23
    • 0033180615 scopus 로고    scopus 로고
    • Coupling of transcription with alternative splicing: RNA polII promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer
    • Cramer, P., Caceres, J.F., Cazalla, D., Kadener, S., Muro, A.F., Baralle, F.E., and Kornblihtt, A.R. (1999). Coupling of transcription with alternative splicing: RNA polII promoters modulate SF2/ASF and 9G8 effects on an exonic splicing enhancer. Mol. Cell 4, 251-258.
    • (1999) Mol. Cell , vol.4 , pp. 251-258
    • Cramer, P.1    Caceres, J.F.2    Cazalla, D.3    Kadener, S.4    Muro, A.F.5    Baralle, F.E.6    Kornblihtt, A.R.7
  • 25
    • 0033009241 scopus 로고    scopus 로고
    • Activity-dependent regulation of alternative splicing patterns in the rat brain
    • Daoud, R., Da Penha Berzaghi, M., Siedler, F., Hubener, M., and Stamm, S. (1999). Activity-dependent regulation of alternative splicing patterns in the rat brain. Eur. J. Neurosci. 11, 788-802.
    • (1999) Eur. J. Neurosci. , vol.11 , pp. 788-802
    • Daoud, R.1    Da Penha Berzaghi, M.2    Siedler, F.3    Hubener, M.4    Stamm, S.5
  • 26
    • 0037101633 scopus 로고    scopus 로고
    • Ischemia induces a translocation of the splicing factor tra2-betal and changes altemative splicing patterns in the brain
    • Daoud, R., Mies, G., Kopczyska, A., Oláh, L., Hossmann, K., and Stamm, S. (2002). Ischemia induces a translocation of the splicing factor tra2-betal and changes alternative splicing patterns in the brain. J. Neurosci. 22, 5889-5899.
    • (2002) J. Neurosci. , vol.22 , pp. 5889-5899
    • Daoud, R.1    Mies, G.2    Kopczyska, A.3    Oláh, L.4    Hossmann, K.5    Stamm, S.6
  • 29
    • 0028116345 scopus 로고
    • Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy
    • De Meirleir, L., Lissens, W., Benelli, C., Ponsot, G., Desguerre, I., Marsac, C., Rodriguez, D., Saudubray, J.M., Poggi, F., and Liebaers, I. (1994). Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. Pediatr. Res. 36, 707-712.
    • (1994) Pediatr. Res. , vol.36 , pp. 707-712
    • De Meirleir, L.1    Lissens, W.2    Benelli, C.3    Ponsot, G.4    Desguerre, I.5    Marsac, C.6    Rodriguez, D.7    Saudubray, J.M.8    Poggi, F.9    Liebaers, I.10
  • 31
    • 0021008827 scopus 로고
    • A nucleotide change in IVS 2 of a beta-thalassemia gene leads to a cryptic splice not at the site of the mutation
    • Dobkin, C., and Bank, A. (1983). A nucleotide change in IVS 2 of a beta-thalassemia gene leads to a cryptic splice not at the site of the mutation. Prog. Clin. Biol. Res. 134, 127-128.
    • (1983) Prog. Clin. Biol. Res. , vol.134 , pp. 127-128
    • Dobkin, C.1    Bank, A.2
  • 32
    • 0020505572 scopus 로고
    • Abnormal splice in a mutant human beta-globin gene not at the site of a mutation
    • Dobkin, C., Pergolizzi, R.G., Bahre, P., and Bank, A. (1983). Abnormal splice in a mutant human beta-globin gene not at the site of a mutation. Proc. Natl. Acad. Sci. USA 80, 1184-1188.
    • (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 1184-1188
    • Dobkin, C.1    Pergolizzi, R.G.2    Bahre, P.3    Bank, A.4
  • 33
    • 0035230130 scopus 로고    scopus 로고
    • The splice of life: Alternative splicing and neurological disease
    • Dredge, B.K., Polydorides, A.D., and Darnell, R.B. (2001). The splice of life: Alternative splicing and neurological disease. Nat. Rev. Neurosci. 2, 43-50.
    • (2001) Nat. Rev. Neurosci. , vol.2 , pp. 43-50
    • Dredge, B.K.1    Polydorides, A.D.2    Darnell, R.B.3
  • 34
    • 0036512117 scopus 로고    scopus 로고
    • Messenger RNA-binding proteins and the messages they carry
    • Dreyfuss, G., Kim, W.N., and Kataoka, N. (2002). MessengerRNA-binding proteins and the messages they carry. Nat. Rev. Mol. Cell. Biol. 3, 195-205.
    • (2002) Nat. Rev. Mol. Cell. Biol. , vol.3 , pp. 195-205
    • Dreyfuss, G.1    Kim, W.N.2    Kataoka, N.3
  • 35
    • 0034625379 scopus 로고    scopus 로고
    • Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusions
    • D'Souza, I., and Schellenberg, G.D. (2000). Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusions. J. Biol. Chem. 275, 17700-17709.
    • (2000) J. Biol. Chem. , vol.275 , pp. 17700-17709
    • D'Souza, I.1    Schellenberg, G.D.2
  • 36
    • 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., Poorkai, P., Hong, M., Nochlin, D., Lee, V.M.Y., Bird, T.D., and Schellenberg, G.D. (1999). 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) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkai, P.2    Hong, M.3    Nochlin, D.4    Lee, V.M.Y.5    Bird, T.D.6    Schellenberg, G.D.7
  • 37
    • 0035942736 scopus 로고    scopus 로고
    • Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells
    • Elbashir, S.M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K., and Tuschl, T. (2001). Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411, 494-498.
    • (2001) Nature , vol.411 , pp. 494-498
    • Elbashir, S.M.1    Harborth, J.2    Lendeckel, W.3    Yalcin, A.4    Weber, K.5    Tuschl, T.6
  • 38
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer, P.A., and Dietz, H.C. (1999). Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8, 1893-1900.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 39
    • 0031723896 scopus 로고    scopus 로고
    • Two mutations remote from an exon/intron junction in the beta- hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease
    • Fujimaru, M., Tanaka, A., Choeh, K., Wakamatsu, N., Sakuraba, H., and Isshiki, G. (1998). Two mutations remote from an exon/intron junction in the beta- hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease. Hum. Genet. 103, 462-469.
    • (1998) Hum. Genet. , vol.103 , pp. 462-469
    • Fujimaru, M.1    Tanaka, A.2    Choeh, K.3    Wakamatsu, N.4    Sakuraba, H.5    Isshiki, G.6
  • 40
    • 0033978622 scopus 로고    scopus 로고
    • Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia
    • Gao, Q.S., Memmott, J., Lafyatis, R., Stamm, S., Screaton, G., and Andreadis, A. (2000). Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia. J. Neurochem. 74, 490-500.
    • (2000) J. Neurochem. , vol.74 , pp. 490-500
    • Gao, Q.S.1    Memmott, J.2    Lafyatis, R.3    Stamm, S.4    Screaton, G.5    Andreadis, A.6
  • 41
    • 0032239750 scopus 로고    scopus 로고
    • A novel transcriptional coactivator, p52, functionally interacts with the essential splicing factor ASF/SF2
    • Ge, H., Si, Y., and Wolffe, A.P. (1998). A novel transcriptional coactivator, p52, functionally interacts with the essential splicing factor ASF/SF2. Mol. Cell 2, 751-759.
    • (1998) Mol. Cell , vol.2 , pp. 751-759
    • Ge, H.1    Si, Y.2    Wolffe, A.P.3
  • 42
    • 0034939628 scopus 로고    scopus 로고
    • Increased efficiency of mRNA 3′ end formation: A new genetic mechanism contributing to hereditary thrombophilia
    • Gehring, N.H., Frede, U., Neu-Yilik, G., Hundsdorfer, P., Vetter, B., Hentze, M.W., and Kulozik, A.E. (2001). Increased efficiency of mRNA 3′ end formation: A new genetic mechanism contributing to hereditary thrombophilia. Nat. Genet. 28, 389-392.
    • (2001) Nat. Genet. , vol.28 , pp. 389-392
    • Gehring, N.H.1    Frede, U.2    Neu-Yilik, G.3    Hundsdörfer, P.4    Vetter, B.5    Hentze, M.W.6    Kulozik, A.E.7
  • 43
    • 0035369742 scopus 로고    scopus 로고
    • RNA editing by base deamination: More enzymes, more targets, new mysteries
    • Gerber, A.P., and Keller, W. (2001). RNA editing by base deamination: More enzymes, more targets, new mysteries. Trends Biochem. Sci. 26, 376-384.
    • (2001) Trends Biochem. Sci. , vol.26 , pp. 376-384
    • Gerber, A.P.1    Keller, W.2
  • 47
    • 0029087566 scopus 로고
    • Tissue-dependent expression of heat shock factor 2 isoforms with distinct transcriptional activities
    • Goodson, M.L., Park, S.O., and Sarge, K.D. (1995). Tissue-dependent expression of heat shock factor 2 isoforms with distinct transcriptional activities. Mol. Cell. Biol. 15, 5288-5293.
    • (1995) Mol. Cell. Biol. , vol.15 , pp. 5288-5293
    • Goodson, M.L.1    Park, S.O.2    Sarge, K.D.3
  • 48
    • 0034507456 scopus 로고    scopus 로고
    • Functions and mechanisms of RNA editing
    • Gott, J.M., and Emeson, R.B. (2000). Functions and mechanisms of RNA editing. Annu. Rev. Genet. 34, 499-531.
    • (2000) Annu. Rev. Genet. , vol.34 , pp. 499-531
    • Gott, J.M.1    Emeson, R.B.2
  • 49
    • 0032549748 scopus 로고    scopus 로고
    • Splicing regulation in neurons: Tinkering with cell-specific control
    • Grabowski, P. (1998). Splicing regulation in neurons: Tinkering with cell-specific control. Cell 92, 709-712.
    • (1998) Cell , vol.92 , pp. 709-712
    • Grabowski, P.1
  • 50
    • 0034906754 scopus 로고    scopus 로고
    • Alternative RNA splicing in the nervous system
    • Grabowski, P.L., and Black, D.L. (2001). Alternative RNA splicing in the nervous system. Prog. Neurobiol. 65, 289-308.
    • (2001) Prog. Neurobiol. , vol.65 , pp. 289-308
    • Grabowski, P.L.1    Black, D.L.2
  • 51
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • Graveley, B.R. (2000). Sorting out the complexity of SR protein functions. RNA 6, 1197-1211.
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 52
    • 0035252410 scopus 로고    scopus 로고
    • Alternative splicing: Increasing diversity in the proteomic world
    • Graveley, B.R. (2001). Alternative splicing: Increasing diversity in the proteomic world. Trends Genet. 17, 99-108.
    • (2001) Trends Genet. , vol.17 , pp. 99-108
    • Graveley, B.R.1
  • 54
    • 0344074646 scopus 로고    scopus 로고
    • Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors
    • Hanamura, A., Caceres, J.F., Mayeda, A., Franza, B.R., and Krainer, A.R. (1998). Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors. RNA 4, 430-444.
    • (1998) RNA , vol.4 , pp. 430-444
    • Hanamura, A.1    Caceres, J.F.2    Mayeda, A.3    Franza, B.R.4    Krainer, A.R.5
  • 55
    • 0036493224 scopus 로고    scopus 로고
    • A question of size: The eukaryotic proteome and the problems in defining it
    • Harrison, P.M., Kumar, A., Lang, N., Snyder, M., and Gerstein, M. (2002). A question of size: The eukaryotic proteome and the problems in defining it. Nucleic Acids Res. 30, 1083-1090.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 1083-1090
    • Harrison, P.M.1    Kumar, A.2    Lang, N.3    Snyder, M.4    Gerstein, M.5
  • 57
    • 0033060662 scopus 로고    scopus 로고
    • FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
    • Hasegawa, M., Smith, M.J., Iijima, M., Tabira, T., and Goedert, M. (1999). FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett. 443, 93-96.
    • (1999) FEBS Lett. , vol.443 , pp. 93-96
    • Hasegawa, M.1    Smith, M.J.2    Iijima, M.3    Tabira, T.4    Goedert, M.5
  • 58
    • 0028258595 scopus 로고
    • Single exon mutation in arylsulfatase A gene has two effects: Loss of enzyme activity and aberrant splicing
    • Hasegawa, Y., Kawame, H., Ida, H., Ohashi, T., and Eto, Y. (1994). Single exon mutation in arylsulfatase A gene has two effects: Loss of enzyme activity and aberrant splicing. Hum. Genet. 93, 415-420.
    • (1994) Hum. Genet. , vol.93 , pp. 415-420
    • Hasegawa, Y.1    Kawame, H.2    Ida, H.3    Ohashi, T.4    Eto, Y.5
  • 59
    • 0035370845 scopus 로고    scopus 로고
    • Pre-mRNA splicing in the new millennium
    • Hastings, M.L., and Krainer, A.R. (2001). Pre-mRNA splicing in the new millennium. Curr. Opin. Cell Biol. 13, 302-309.
    • (2001) Curr. Opin. Cell Biol. , vol.13 , pp. 302-309
    • Hastings, M.L.1    Krainer, A.R.2
  • 60
    • 0033525169 scopus 로고    scopus 로고
    • A perfect message: RNA surveillance and nonsense-mediated decay
    • Hentze, M.W., and KULOZIK, A.E. (1999). A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96, 307-310.
    • (1999) Cell , vol.96 , pp. 307-310
    • Hentze, M.W.1    Kulozik, A.E.2
  • 61
    • 0032978212 scopus 로고    scopus 로고
    • RNA processing and the evolution of eukaryotes
    • Herbert, A., and Rich, A. (1999). RNA processing and the evolution of eukaryotes. Nat. Genet. 21, 265-269.
    • (1999) Nat. Genet. , vol.21 , pp. 265-269
    • Herbert, A.1    Rich, A.2
  • 63
    • 0031990320 scopus 로고    scopus 로고
    • The function of multisite splicing enhancers
    • Hertel, K.J., and Maniatis, T. (1998). The function of multisite splicing enhancers. Mol. Cell 1, 449-455.
    • (1998) Mol. Cell , vol.1 , pp. 449-455
    • Hertel, K.J.1    Maniatis, T.2
  • 64
    • 0020616367 scopus 로고
    • Clinical features and molecular analysis of acquired hemoglobin H disease
    • Higgs, D.R., Wood, W.G., Barton, C., and Weatherall, D.J. (1983). Clinical features and molecular analysis of acquired hemoglobin H disease. Am. J. Med. 75, 181-191.
    • (1983) Am. J. Med. , vol.75 , pp. 181-191
    • Higgs, D.R.1    Wood, W.G.2    Barton, C.3    Weatherall, D.J.4
  • 65
    • 0036086829 scopus 로고    scopus 로고
    • Annotating the human proteome: The Human Proteome Survey Database (HumanPSD) and an in-depth target database for G protein-coupled receptors (GPCR-PD) from Incyte Genomics
    • Hodges, P.E., Carrico, P.M., Hogan, J.D., O'Neill, K.E., Owen, J.J., Mangan, M., Davis, B.P., Brooks, J.E., and Garrels, J.I. (2002). Annotating the human proteome: The Human Proteome Survey Database (HumanPSD) and an in-depth target database for G protein-coupled receptors (GPCR-PD) from Incyte Genomics. Nucleic Acids Res. 30, 137-141.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 137-141
    • Hodges, P.E.1    Carrico, P.M.2    Hogan, J.D.3    O'Neill, K.E.4    Owen, J.J.5    Mangan, M.6    Davis, B.P.7    Brooks, J.E.8    Garrels, J.I.9
  • 67
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Hofmann, Y., Lorson, C.L., Stamm, S., Androphy, E.J., and Wirth, B. (2000). Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl. Acad. Sci. USA 97, 9618-9623.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 9618-9623
    • Hofmann, Y.1    Lorson, C.L.2    Stamm, S.3    Androphy, E.J.4    Wirth, B.5
  • 69
    • 0030825190 scopus 로고    scopus 로고
    • MKK7 is a stress-activated mitogen-activated protein kinase kinase functionally related to hemipterous
    • Holland, P.M., Suzanne, M., Campbell, J.S., Noselli, S., and Cooper, J.A. (1997). MKK7 is a stress-activated mitogen-activated protein kinase kinase functionally related to hemipterous. J. Biol. Chem. 272, 24994-24998.
    • (1997) J. Biol. Chem. , vol.272 , pp. 24994-24998
    • Holland, P.M.1    Suzanne, M.2    Campbell, J.S.3    Noselli, S.4    Cooper, J.A.5
  • 70
    • 0032444355 scopus 로고    scopus 로고
    • Altered ratios of alternatively spliced long and short gamma2 subunit mRNAs of the gamma-amino butyrate type A receptor in prefrontal cortex of schizophrenics
    • Huntsman, M.M., Tran, B.V., Potkin, S.G., Bunney, W.E., JR., and Jones, E.G. (1998). Altered ratios of alternatively spliced long and short gamma2 subunit mRNAs of the gamma-amino butyrate type A receptor in prefrontal cortex of schizophrenics. Proc. Natl. Acad. Sci. USA 95, 15066-15071.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 15066-15071
    • Huntsman, M.M.1    Tran, B.V.2    Potkin, S.G.3    Bunney W.E., Jr.4    Jones, E.G.5
  • 73
    • 0034639745 scopus 로고    scopus 로고
    • Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
    • Jablonka, S., Schrank, B., Kralewski, M., Rossoll, W., and Sendtner, M. (2000). Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III. Hum. Mol. Genet. 9, 341-346.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 341-346
    • Jablonka, S.1    Schrank, B.2    Kralewski, M.3    Rossoll, W.4    Sendtner, M.5
  • 75
    • 0029910219 scopus 로고    scopus 로고
    • Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection
    • Jin, Y., Dietz, H.C., Montgomery, R.A., Bell, W.R., McIntosh, I., Coller, B., and Bray, P.F. (1996). Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J. Clin. Invest. 98, 1745-1754.
    • (1996) J. Clin. Invest. , vol.98 , pp. 1745-1754
    • Jin, Y.1    Dietz, H.C.2    Montgomery, R.A.3    Bell, W.R.4    McIntosh, I.5    Coller, B.6    Bray, P.F.7
  • 76
    • 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., and Misteli, T. (2001). Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J. Biol. Chem. 276, 42986-42993.
    • (2001) J. Biol. Chem. , vol.276 , pp. 42986-42993
    • Kalbfuss, B.1    Mabon, S.A.2    Misteli, T.3
  • 77
    • 0028881190 scopus 로고
    • Cell type specific expression of hnRNP proteins
    • Kamma, H., Potman, D.S., and Dreyfuss, G. (1995). Cell type specific expression of hnRNP proteins. Exp. Cell Res. 221, 187-196.
    • (1995) Exp. Cell Res. , vol.221 , pp. 187-196
    • Kamma, H.1    Potman, D.S.2    Dreyfuss, G.3
  • 78
    • 0032574973 scopus 로고    scopus 로고
    • Acute stress facilitates long-lasting changes in cholinergic gene expression
    • Kaufer, D., Friedman, A., Seidman, S., and Soreq, H. (1998). Acute stress facilitates long-lasting changes in cholinergic gene expression. Nature 393, 373-377.
    • (1998) Nature , vol.393 , pp. 373-377
    • Kaufer, D.1    Friedman, A.2    Seidman, S.3    Soreq, H.4
  • 79
    • 0029866870 scopus 로고    scopus 로고
    • The molecular basis for disease variability in cystic fibrosis
    • Kerem, B., and Kerem, E. (1996). The molecular basis for disease variability in cystic fibrosis. Eur. J. Hum. Genet. 4, 65-73.
    • (1996) Eur. J. Hum. Genet. , vol.4 , pp. 65-73
    • Kerem, B.1    Kerem, E.2
  • 80
    • 0035980036 scopus 로고    scopus 로고
    • Nuclear mRNA binding proteins couple pre-mRNA splicing and post-splicing events
    • Kim, V.N., and Dreyfuss, G. (2001). Nuclear mRNA binding proteins couple pre-mRNA splicing and post-splicing events. Mol. Cells 12, 1-10.
    • (2001) Mol. Cells , vol.12 , pp. 1-10
    • Kim, V.N.1    Dreyfuss, G.2
  • 81
    • 0035901565 scopus 로고    scopus 로고
    • The Y14 protein communicates to the cytoplasm the position of exon-exon junctions
    • Kim, V.N., Yong, J., Kataoka, N., Abel, L., Diem, M.D., and Dreyfuss, G. (2001). The Y14 protein communicates to the cytoplasm the position of exon-exon junctions. EMBO J. 20, 2062-2068.
    • (2001) EMBO J. , vol.20 , pp. 2062-2068
    • Kim, V.N.1    Yong, J.2    Kataoka, N.3    Abel, L.4    Diem, M.D.5    Dreyfuss, G.6
  • 82
    • 0032520688 scopus 로고    scopus 로고
    • Myotonic dystrophy: Molecular windows on a complex etiology
    • Korade-Mirnics, Z., Babitzke, P., and Hoffman, E. (1998). Myotonic dystrophy: Molecular windows on a complex etiology. Nucleic Acids Res. 26, 1363-1368.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 1363-1368
    • Korade-Mirnics, Z.1    Babitzke, P.2    Hoffman, E.3
  • 83
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak, M., Reiss, J., and Cooper, D.N. (1992). The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum. Genet. 90, 41-54.
    • (1992) Hum. Genet. , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 84
    • 0033153348 scopus 로고    scopus 로고
    • hnRNP complexes: Composition, structure, and function
    • Krecic, A.M., and Swanson, M.S. (1999). hnRNP complexes: Composition, structure, and function. Curr. Opin. Cell Biol. 11, 363-371.
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 363-371
    • Krecic, A.M.1    Swanson, M.S.2
  • 86
    • 0032486203 scopus 로고    scopus 로고
    • Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors
    • Lan, N., Howrey, R.P., Lee, S.W., Smith, C.A., and Sullenger, B.A. (1998). Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. Science 280, 1593-1596.
    • (1998) Science , vol.280 , pp. 1593-1596
    • Lan, N.1    Howrey, R.P.2    Lee, S.W.3    Smith, C.A.4    Sullenger, B.A.5
  • 88
    • 0034615850 scopus 로고    scopus 로고
    • Increased levels of expression of an NMDARI splice variant in the superior temporal gyms in schizophrenia
    • Le Corre, S., Harper, C.G., Lopez, P., Ward, P., and Catts, S. (2000). Increased levels of expression of an NMDARI splice variant in the superior temporal gyms in schizophrenia. Neuroreport 11, 983-986.
    • (2000) Neuroreport , vol.11 , pp. 983-986
    • Le Corre, S.1    Harper, C.G.2    Lopez, P.3    Ward, P.4    Catts, S.5
  • 91
    • 0030924307 scopus 로고    scopus 로고
    • Selective increase in specific alternative splice variants of tyrosinase in murine melanomas: A projected basis for immunotherapy
    • Lefur, N., Kelsall, S.R., Silvers, W.K., and Mintz, B. (1997). Selective increase in specific alternative splice variants of tyrosinase in murine melanomas: A projected basis for immunotherapy. Proc. Natl. Acad. Sci. USA 94, 5332-5337.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 5332-5337
    • Lefur, N.1    Kelsall, S.R.2    Silvers, W.K.3    Mintz, B.4
  • 93
    • 0034839007 scopus 로고    scopus 로고
    • Ribozyme gene therapy: Applications for molecular medicine
    • Lewin, A.S., and Hauswirth, W.W. (2001). Ribozyme gene therapy: Applications for molecular medicine. Trends Mol. Med. 7, 221-228.
    • (2001) Trends Mol. Med. , vol.7 , pp. 221-228
    • Lewin, A.S.1    Hauswirth, W.W.2
  • 94
    • 0012252999 scopus 로고    scopus 로고
    • Modulation of SMN pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
    • Lim, S.R., and Hertel, K.J. (2001). Modulation of SMN pre-mRNA splicing by inhibition of alternative 3′ splice site pairing. J. Biol. Chem. 2, 2.
    • (2001) J. Biol. Chem. , vol.2 , pp. 2
    • Lim, S.R.1    Hertel, K.J.2
  • 95
    • 0032032013 scopus 로고    scopus 로고
    • Aberrant RNA processing in a neurodegenerative disease: The cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis
    • Lin, C., Bristol, L.A., Jin, L., Dykes-Hoberg, M., Crawford, T., Clawson, L., and Rothstein, J.D. (1998). Aberrant RNA processing in a neurodegenerative disease: The cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20, 589-602.
    • (1998) Neuron , vol.20 , pp. 589-602
    • Lin, C.1    Bristol, L.A.2    Jin, L.3    Dykes-Hoberg, M.4    Crawford, T.5    Clawson, L.6    Rothstein, J.D.7
  • 96
    • 0035908996 scopus 로고    scopus 로고
    • NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation
    • Lin, J., Frints, S., Duhamel, H., Herold, A., Abad-Rodrigues, J., Dotti, C., Izaurralde E., Marynen, P., and Froyen, G. (2001). NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. CURT. Biol. 11, 1381-1391.
    • (2001) CURT. Biol. , vol.11 , pp. 1381-1391
    • Lin, J.1    Frints, S.2    Duhamel, H.3    Herold, A.4    Abad-Rodrigues, J.5    Dotti, C.6    Izaurralde, E.7    Marynen, P.8    Froyen, G.9
  • 97
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu, H.X., Cartegni, L., Zhang, M.Q., and Krainer, A.R. (2001). A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet. 27, 55-58.
    • (2001) Nat. Genet. , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 98
    • 0031202066 scopus 로고    scopus 로고
    • Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
    • Liu, W., Qian, C., and Francke, U. (1997). Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Nat. Genet. 16, 328-329.
    • (1997) Nat. Genet. , vol.16 , pp. 328-329
    • Liu, W.1    Qian, C.2    Francke, U.3
  • 99
    • 0029869938 scopus 로고    scopus 로고
    • Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at -22 bp from the 5′ splice site causes skipping of exon 3
    • Llewellyn, D.H., Scobie, G.A., Urquhart, A.J.., Whatley, S.D., Roberts, A.G., Harrison, P.R., and Elder, G.H. (1996). Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at -22 bp from the 5′ splice site causes skipping of exon 3. J. Med. Genet. 33, 437-438.
    • (1996) J. Med. Genet. , vol.33 , pp. 437-438
    • Llewellyn, D.H.1    Scobie, G.A.2    Urquhart, A.J.3    Whatley, S.D.4    Roberts, A.G.5    Harrison, P.R.6    Elder, G.H.7
  • 100
    • 0027763631 scopus 로고
    • An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, intemalization defective receptor
    • Lombardi, P., Hoffer, M.J., Top, B., De Wit, E., Gevers Leuven, J.A., Frants, R.R., and Havekes, L.M. (1993). An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, intemalization defective receptor. Atherosclerosis 104, 117-128.
    • (1993) Atherosclerosis , vol.104 , pp. 117-128
    • Lombardi, P.1    Hoffer, M.J.2    Top, B.3    De Wit, E.4    Gevers Leuven, J.A.5    Frants, R.R.6    Havekes, L.M.7
  • 101
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • Lorson, C.L., and Androphy, E.J. (2000). An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9, 259-265.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 102
    • 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., and Wirth, B. (1999). 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) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 103
    • 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., and Timchenko, L.T. (1999). Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum. Mol. Genet. 8, 53-60.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 53-60
    • Lu, X.1    Timchenko, N.A.2    Timchenko, L.T.3
  • 104
    • 0035968259 scopus 로고    scopus 로고
    • A CD45 polymorphism associted with multiple sclerosis disrupts an exonic splicing silencer
    • Lynch, K.W., and Weiss, A. (2001). A CD45 polymorphism associted with multiple sclerosis disrupts an exonic splicing silencer. J. Biol. Chem. 276, 24341-24347.
    • (2001) J. Biol. Chem. , vol.276 , pp. 24341-24347
    • Lynch, K.W.1    Weiss, A.2
  • 105
    • 0037041395 scopus 로고    scopus 로고
    • An extensive network of coupling among gene expression machines
    • Maniatis, T., and REED, R. (2002). An extensive network of coupling among gene expression machines. Nature 416, 499-506.
    • (2002) Nature , vol.416 , pp. 499-506
    • Maniatis, T.1    Reed, R.2
  • 106
    • 0029767662 scopus 로고    scopus 로고
    • SR proteins and splicing control
    • Manley, J.L., and Tacke, R. (1996). SR proteins and splicing control. Genes Dev. 10, 1569-1579.
    • (1996) Genes Dev. , vol.10 , pp. 1569-1579
    • Manley, J.L.1    Tacke, R.2
  • 109
    • 0035951432 scopus 로고    scopus 로고
    • Quality control of mRNA function
    • Maquat, L.E., and Carmichael, G.G. (2001). Quality control of mRNA function. Cell 104, 173-176.
    • (2001) Cell , vol.104 , pp. 173-176
    • Maquat, L.E.1    Carmichael, G.G.2
  • 110
    • 0034351371 scopus 로고    scopus 로고
    • 5′-Heterogeneity of glucocorticoid receptor messenger RNA is tissue specific: Differential regulation of variant transcripts by early-life events
    • McCormick, J.A., Lyons, V., Jacobson, M.D., Noble, J., Diorio, J., Nyirenda, M., Weaver, S., Ester, W., Yau, J.L., Meaney, M.J., et al. (2000). 5′-Heterogeneity of glucocorticoid receptor messenger RNA is tissue specific: Differential regulation of variant transcripts by early-life events. Mol. Endocrinol. 14, 506-507.
    • (2000) Mol. Endocrinol. , vol.14 , pp. 506-507
    • McCormick, J.A.1    Lyons, V.2    Jacobson, M.D.3    Noble, J.4    Diorio, J.5    Nyirenda, M.6    Weaver, S.7    Ester, W.8    Yau, J.L.9    Meaney, M.J.10
  • 111
    • 0032912252 scopus 로고    scopus 로고
    • Stress and hippocampal plasticity
    • McEwen, B.S. (1999). Stress and hippocampal plasticity. Annu. Rev. Neurosci. 22, 105-122.
    • (1999) Annu. Rev. Neurosci. , vol.22 , pp. 105-122
    • McEwen, B.S.1
  • 114
    • 0035900647 scopus 로고    scopus 로고
    • When the message goes awry: Disease-producing mutations that influence mRNA content and performance
    • Mendell, J.T., and Dietz, H.C. (2001). When the message goes awry: Disease-producing mutations that influence mRNA content and performance. Cell 107, 411-414.
    • (2001) Cell , vol.107 , pp. 411-414
    • Mendell, J.T.1    Dietz, H.C.2
  • 115
    • 0034065833 scopus 로고    scopus 로고
    • Modification of alternative splicing pathways as a potential approach to chemotherpy
    • Mercatante, D., and Kole, R. (2000). Modification of alternative splicing pathways as a potential approach to chemotherpy. Pharmacol. Ther. 85, 237-243.
    • (2000) Pharmacol. Ther. , vol.85 , pp. 237-243
    • Mercatante, D.1    Kole, R.2
  • 117
    • 0031439698 scopus 로고    scopus 로고
    • Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
    • Messiaen, L., Callens, T., De Paepe, A., Craen, M., and Mortier, G. (1997). Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. Hum. Genet. 101, 75-80.
    • (1997) Hum. Genet. , vol.101 , pp. 75-80
    • Messiaen, L.1    Callens, T.2    Paepe, D.E.3    Craen, A.4    Mortier, M.G.5
  • 118
    • 0033151767 scopus 로고    scopus 로고
    • mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription
    • Minvielle-Sebastia, L., and Keller, W. (1999). mRNA polyadenylation and its coupling to other RNA processing reactions and to transcription. Curr. Opin. Cell Biol. 11, 352-357.
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 352-357
    • Minvielle-Sebastia, L.1    Keller, W.2
  • 119
    • 0032547829 scopus 로고    scopus 로고
    • Serine phosphorylation of SR proteins is required for their recruitment to sites of transcription in vivo
    • Misteli, T., Caceres, J.F., Clement, J.Q., Krainer, A.R., Wilkinson, M.F., and Spector, D.L. (1998). Serine phosphorylation of SR proteins is required for their recruitment to sites of transcription in vivo. J. Cell. Biol. 143, 297-307.
    • (1998) J. Cell. Biol. , vol.143 , pp. 297-307
    • Misteli, T.1    Caceres, J.F.2    Clement, J.Q.3    Krainer, A.R.4    Wilkinson, M.F.5    Spector, D.L.6
  • 120
    • 0035393343 scopus 로고    scopus 로고
    • Genome-wide detection of alternative splicing in expressed sequences of human genes
    • Modrek, B., Resch, A., Grasso, C., and Lee, C. (2001). Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res. 29, 2850-2859.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 2850-2859
    • Modrek, B.1    Resch, A.2    Grasso, C.3    Lee, C.4
  • 121
    • 0034639645 scopus 로고    scopus 로고
    • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(_/_) mice and results in a mouse with spinal muscular atrophy
    • Monani, U.R., Sendtner, M., Coovert, D.D., Parsons, D.W., Andreassi, C., Le, T.T., Jablonka, S., Schrank, B., Rossol, W., Prior, T.W., et al. (2000). The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(_/_) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9, 333-339.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 333-339
    • Monani, U.R.1    Sendtner, M.2    Coovert, D.D.3    Parsons, D.W.4    Andreassi, C.5    Le, T.T.6    Jablonka, S.7    Schrank, B.8    Rossol, W.9    Prior, T.W.10
  • 122
    • 0035266295 scopus 로고    scopus 로고
    • HuR, a RNA stability factor, is expressed in malignant brain tumors and binds to adenine- and uridine-rich elements within the 3′ untranslated regions of cytokine and angiogenic factor mRNAs
    • Nabors, L.B., Gillespie, G.Y., Harkins, L., and King, P.H. (2001). HuR, a RNA stability factor, is expressed in malignant brain tumors and binds to adenine- and uridine-rich elements within the 3' untranslated regions of cytokine and angiogenic factor mRNAs. Cancer Res. 61, 2154-2161.
    • (2001) Cancer Res. , vol.61 , pp. 2154-2161
    • Nabors, L.B.1    Gillespie, G.Y.2    Harkins, L.3    King, P.H.4
  • 123
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai, K., and Sakamoto, H. (1994). Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 141, 171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 124
    • 0030778935 scopus 로고    scopus 로고
    • Characterization and comparison of four SR protein kinases
    • Nayler, O., Stamm, S., and Ullrich, A. (1997). Characterization and comparison of four SR protein kinases. Biochem. J. 326, 693-700.
    • (1997) Biochem. J. , vol.326 , pp. 693-700
    • Nayler, O.1    Stamm, S.2    Ullrich, A.3
  • 126
    • 0031711073 scopus 로고    scopus 로고
    • Mass spectrometry and EST-database searching allows characterization of the multiprotein spliceosome complex
    • Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A., and Mann, M. (1998). Mass spectrometry and EST-database searching allows characterization of the multiprotein spliceosome complex. Nat. Genet. 20, 46-50.
    • (1998) Nat. Genet. , vol.20 , pp. 46-50
    • Neubauer, G.1    King, A.2    Rappsilber, J.3    Calvio, C.4    Watson, M.5    Ajuh, P.6    Sleeman, J.7    Lamond, A.8    Mann, M.9
  • 127
    • 0036498543 scopus 로고    scopus 로고
    • Splicing regulation as a potential genetic modifier
    • Nissim-Rafinia, M., and Kerem, B. (2002). Splicing regulation as a potential genetic modifier. Trends Genet. 18, 123-127.
    • (2002) Trends Genet. , vol.18 , pp. 123-127
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 129
    • 0022021842 scopus 로고
    • Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene
    • Orkin, S.H., Cheng, T.C., Antonarakis, S.E., and Kazazian, H.H., JR. (1985). Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. EMBO J. 4, 453-456.
    • (1985) EMBO J. , vol.4 , pp. 453-456
    • Orkin, S.H.1    Cheng, T.C.2    Antonarakis, S.E.3    Kazazian H.H., Jr.4
  • 130
    • 0037022382 scopus 로고    scopus 로고
    • Stable suppression of gene expression by RNAi in mammalian cells
    • Paddison, P.J., Caudy, A.A., and Hannon, G.J. (2002). Stable suppression of gene expression by RNAi in mammalian cells. Proc. Natl. Acad. Sci. USA 99, 1443-1448.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 1443-1448
    • Paddison, P.J.1    Caudy, A.A.2    Hannon, G.J.3
  • 132
    • 0034682706 scopus 로고    scopus 로고
    • A-to-I pre-mRNA editing in Drosophila is primarily involved in adult nervous system function and integrity
    • Palladino, M.J., Keegan, L.P., O'Connell, M.A., and Reenan, R.A. (2000). A-to-I pre-mRNA editing in Drosophila is primarily involved in adult nervous system function and integrity. Cell 102, 437-449.
    • (2000) Cell , vol.102 , pp. 437-449
    • Palladino, M.J.1    Keegan, L.P.2    O'Connell, M.A.3    Reenan, R.A.4
  • 133
    • 0032481315 scopus 로고    scopus 로고
    • Inosine exists in mRNA at tissue-specific levels and is most abundant in brain mRNA
    • Paul, M.S., and Bass, B.L. (1998). Inosine exists in mRNA at tissue-specific levels and is most abundant in brain mRNA. EMBO J. 17, 1120-1127.
    • (1998) EMBO J. , vol.17 , pp. 1120-1127
    • Paul, M.S.1    Bass, B.L.2
  • 134
  • 135
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips, A.V., Timchenko, L.T., and COOPER, T.A. (1998). Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 136
    • 0029768690 scopus 로고    scopus 로고
    • Regulation of hepatic apolipoprotein B RNA editing in the genetically obese Zucker rat
    • Phung, T.L., Sowden, M.P., Sparks, J.D., Sparks, C.E., and Smith, H.C. (1996). Regulation of hepatic apolipoprotein B RNA editing in the genetically obese Zucker rat. Metabolism 45, 1056-1058.
    • (1996) Metabolism , vol.45 , pp. 1056-1058
    • Phung, T.L.1    Sowden, M.P.2    Sparks, J.D.3    Sparks, C.E.4    Smith, H.C.5
  • 137
    • 0030030672 scopus 로고    scopus 로고
    • Hereditary tyrosinemia type 1: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; Variability of the genotype-phenotype relationship
    • Ploos Van Amstel, J.K., Bergman, A.J., Van Beurden, E.A., Roijers, J.F., Peelen, T., Van Den Berg, I.E., Pollthe, B.T., Kvittingen, E.A., and Berger, R. (1996). Hereditary tyrosinemia type 1: Novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; Variability of the genotype-phenotype relationship. Hum. Genet. 97, 51-59.
    • (1996) Hum. Genet. , vol.97 , pp. 51-59
    • Ploos van Amstel, J.K.1    Bergman, A.J.2    Van Beurden, E.A.3    Roijers, J.F.4    Peelen, T.5    Van den Berg, I.E.6    Pollthe, B.T.7    Kvittingen, E.A.8    Berger, R.9
  • 138
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort, S.R., Rosendaal, F.R., Reitsma, P.H., and Bertina, R.M. (1996). A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88, 3698-3703.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 140
    • 0035947755 scopus 로고    scopus 로고
    • ADAR1 is involved in the development of microvascular lung injury
    • Rabinovici, R., Kabir, K., Chen, M., Su, Y., Zhang, D., Luo, X., and Yang, J.H. (2001). ADAR1 is involved in the development of microvascular lung injury. Circ. Res. 88, 1066-1071.
    • (2001) Circ. Res. , vol.88 , pp. 1066-1071
    • Rabinovici, R.1    Kabir, K.2    Chen, M.3    Su, Y.4    Zhang, D.5    Luo, X.6    Yang, J.H.7
  • 141
    • 0035811009 scopus 로고    scopus 로고
    • RNA editing activity is associated with splicing factors in lnRNP particles: The nuclear pre-mRNA processing machinery
    • Raitskin, O., Cho, D.S., Sperling, J., Nishikura, K., and Sperling, R. (2001). RNA editing activity is associated with splicing factors in lnRNP particles: The nuclear pre-mRNA processing machinery. Proc. Natl. Acad. Sci. USA 98, 6571-6596.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 6571-6596
    • Raitskin, O.1    Cho, D.S.2    Sperling, J.3    Nishikura, K.4    Sperling, R.5
  • 143
    • 0035252113 scopus 로고    scopus 로고
    • The RNA word meets behavior: A to I pre-mRNA editing in animals
    • Reenan, R.A. (2001). The RNA word meets behavior: A to I pre-mRNA editing in animals. Trends Genet. 17, 53-56.
    • (2001) Trends Genet. , vol.17 , pp. 53-56
    • Reenan, R.A.1
  • 144
    • 0033237812 scopus 로고    scopus 로고
    • Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B
    • Reiss, J., Dorche, C., Stallmeyer, B., Mendel, R.R., Cohen, N., and Zabot, M.T. (1999). Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet. 54, 706-711.
    • (1999) Am. J. Hum. Genet. , vol.54 , pp. 706-711
    • Reiss, J.1    Dorche, C.2    Stallmeyer, B.3    Mendel, R.R.4    Cohen, N.5    Zabot, M.T.6
  • 145
    • 0035866205 scopus 로고    scopus 로고
    • Comparing species
    • Rubin, G.M. (2001). Comparing species. Nature 409, 820-821.
    • (2001) Nature , vol.409 , pp. 820-821
    • Rubin, G.M.1
  • 146
    • 0033529064 scopus 로고    scopus 로고
    • Regulation of alternative splicing by RNA editing
    • Rueter, S.M., Dawson, T.R., and Emeson, R.B. (1999). Regulation of alternative splicing by RNA editing. Nature 399, 75-80.
    • (1999) Nature , vol.399 , pp. 75-80
    • Rueter, S.M.1    Dawson, T.R.2    Emeson, R.B.3
  • 147
    • 0028806224 scopus 로고
    • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: Implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
    • Santisteban, I., Arredondo-Vega, F.X., Kelly, S., Loubser, M., Meydan, N., Roifman, C., Howell, P.L., Bowen, T., Weinberg, K.I., Schroeder, M.L. et al. (1995). Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: Implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum. Mol. Genet. 4, 2081-2087.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2081-2087
    • Santisteban, I.1    Arredondo-Vega, F.X.2    Kelly, S.3    Loubser, M.4    Meydan, N.5    Roifman, C.6    Howell, P.L.7    Bowen, T.8    Weinberg, K.I.9    Schroeder, M.L.10
  • 149
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur, R.S., Philips, A.V., and Cooper, T.A. (2001). Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29, 40-47.
    • (2001) Nat. Genet. , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 150
    • 0034701812 scopus 로고    scopus 로고
    • A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases
    • Shapira, M., Tur-Kaspa, I., Bosgraaf, L., Livni, N., Grant, A.D., Grisaru, D., Korner, M., Ebstein, R.P., and Soreq, H. (2000). A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases. Hum. Mol. Genet. 9, 1273-1281.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1273-1281
    • Shapira, M.1    Tur-Kaspa, I.2    Bosgraaf, L.3    Livni, N.4    Grant, A.D.5    Grisaru, D.6    Korner, M.7    Ebstein, R.P.8    Soreq, H.9
  • 151
    • 0034218721 scopus 로고    scopus 로고
    • Repression of aberrant splicing in human beta-globin pre-mRNA with HbE mutation by antisense oligoribonucleotide or splicing factor SF2/ASF
    • Shirohzu, H., Yamaza, H., and Fukumaki, Y. (2000). Repression of aberrant splicing in human beta-globin pre-mRNA with HbE mutation by antisense oligoribonucleotide or splicing factor SF2/ASF. Int. J. Hematol. 72, 28-33.
    • (2000) Int. J. Hematol. , vol.72 , pp. 28-33
    • Shirohzu, H.1    Yamaza, H.2    Fukumaki, Y.3
  • 153
    • 0035320772 scopus 로고    scopus 로고
    • Acetylcholinesterase - New roles for an old actor
    • Soreq, H., and Seidman, S. (2001). Acetylcholinesterase - New roles for an old actor. Nat. Rev. Neurosci. 2, 294-302.
    • (2001) Nat. Rev. Neurosci. , vol.2 , pp. 294-302
    • Soreq, H.1    Seidman, S.2
  • 154
    • 0035132011 scopus 로고    scopus 로고
    • Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
    • Sossi, V., Giuli, A., Vitali, T., Tiziano, F., Mirabella, M., Antonelli, A., Neri, G., and Brahe, C. (2001). Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. Eur. J. Hum. Genet. 9, 113-120.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 113-120
    • Sossi, V.1    Giuli, A.2    Vitali, T.3    Tiziano, F.4    Mirabella, M.5    Antonelli, A.6    Neri, G.7    Brahe, C.8
  • 155
    • 0034981507 scopus 로고    scopus 로고
    • Tau gene mutations and tau pathology in frontotemporal dementia and parkinsonism linked to chromosome 17
    • Spillantini, M.G., and Goedert, M. (2001). Tau gene mutations and tau pathology in frontotemporal dementia and parkinsonism linked to chromosome 17. Adv. Exp. Med. Biol. 487, 21-37.
    • (2001) Adv. Exp. Med. Biol. , vol.487 , pp. 21-37
    • Spillantini, M.G.1    Goedert, M.2
  • 157
    • 0036798006 scopus 로고    scopus 로고
    • Signals and their transduction pathways regulating alternative splicing: A new dimension of the human genome
    • Stamm, S. (2002). Signals and their transduction pathways regulating alternative splicing: A new dimension of the human genome. Hum. Mol. Genet. 11, 2409-2416.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2409-2416
    • Stamm, S.1
  • 159
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
    • Stanford, P.M., Halliday, G.M., Brooks, W.S., Kwok, J.B., Storey, C.E., Creasey, H., Morris, J.G., Fulham, M.J., and Schofield, P.R. (2000). Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations. Brain 123, 880-893.
    • (2000) Brain , vol.123 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3    Kwok, J.B.4    Storey, C.E.5    Creasey, H.6    Morris, J.G.7    Fulham, M.J.8    Schofield, P.R.9
  • 160
    • 0030728698 scopus 로고    scopus 로고
    • Pre-mRNA processing and the CTD of RNA plymerase II: The tail that wags the dog?
    • Steinmetz, E.J. (1997). Pre-mRNA processing and the CTD of RNA plymerase II: The tail that wags the dog? Cell 89, 491-494.
    • (1997) Cell , vol.89 , pp. 491-494
    • Steinmetz, E.J.1
  • 161
    • 0033578006 scopus 로고    scopus 로고
    • Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorgenesis
    • Stickeler, E., Kittrell, F., Medina, D., and Berget, S.M. (1999). Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorgenesis. Oncogene 18, 3574-3582.
    • (1999) Oncogene , vol.18 , pp. 3574-3582
    • Stickeler, E.1    Kittrell, F.2    Medina, D.3    Berget, S.M.4
  • 164
    • 0033152209 scopus 로고    scopus 로고
    • Determinants of SR protein specificity
    • Tacke, R., and Manley, J.L. (1999). Determinants of SR protein specificity. Curr. Opin. Cell Biol. 11, 358-362.
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 358-362
    • Tacke, R.1    Manley, J.L.2
  • 165
    • 0032752054 scopus 로고    scopus 로고
    • Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis
    • Takuma, H., Kwak, S., Yoshizawa, T., and Kanazawa, I. (1999). Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis. Ann. Neurol. 46, 806-815.
    • (1999) Ann. Neurol. , vol.46 , pp. 806-815
    • Takuma, H.1    Kwak, S.2    Yoshizawa, T.3    Kanazawa, I.4
  • 166
    • 0033600816 scopus 로고    scopus 로고
    • The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing
    • Tanabe, M., Sasai, N., Nagata, K., Liu, X.D., Liu, P.C., Thiele, D.J., and Nakai, A. (1999). The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. J. Biol. Chem. 274, 27845-27856.
    • (1999) J. Biol. Chem. , vol.274 , pp. 27845-27856
    • Tanabe, M.1    Sasai, N.2    Nagata, K.3    Liu, X.D.4    Liu, P.C.5    Thiele, D.J.6    Nakai, A.7
  • 167
    • 0030995509 scopus 로고    scopus 로고
    • Pre-mRNA splicing: The discovery of a new spliceosome doubles the challange
    • Tarn, W.-Y., and Steitz, J.A. (1997). Pre-mRNA splicing: The discovery of a new spliceosome doubles the challange. Trends Biol. Sci. 22, 132-137.
    • (1997) Trends Biol. Sci. , vol.22 , pp. 132-137
    • Tarn, W.-Y.1    Steitz, J.A.2
  • 169
    • 0035875551 scopus 로고    scopus 로고
    • Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions
    • Thanaraj, T.A., and Clark, F. (2001). Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions. Nucleic Acids Res. 29, 2581-2593.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 2581-2593
    • Thanaraj, T.A.1    Clark, F.2
  • 170
    • 0032578911 scopus 로고    scopus 로고
    • Specific interference by ingested dsRNA
    • Timmons, L., and Fire, A. (1998). Specific interference by ingested dsRNA. Nature 395, 854.
    • (1998) Nature , vol.395 , pp. 854
    • Timmons, L.1    Fire, A.2
  • 171
    • 0033638394 scopus 로고    scopus 로고
    • Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios
    • Tiscornia, G., and Mahadevan, M.S (2000). Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Mol. Cell 5, 959-967.
    • (2000) Mol. Cell , vol.5 , pp. 959-967
    • Tiscornia, G.1    Mahadevan, M.S.2
  • 173
    • 0007570010 scopus 로고    scopus 로고
    • The MKK(3/6)-p38-signaling cascade alters the subcellular distribution of hnRNP A1 and modulates alternative splicing regulation
    • Van der Houven van Oordt, W., Diaz-Meco, M.T., Lozano, J., Krainer, A.R., Moscat, J., and Caceres, J.F. (2000). The MKK(3/6)-p38-signaling cascade alters the subcellular distribution of hnRNP A1 and modulates alternative splicing regulation. J. Cell Biol. 149, 307-316.
    • (2000) J. Cell Biol. , vol.149 , pp. 307-316
    • Van der Houven Van Oordt, W.1    Diaz-Meco, M.T.2    Lozano, J.3    Krainer, A.R.4    Moscat, J.5    Caceres, J.F.6
  • 174
    • 0034141513 scopus 로고    scopus 로고
    • Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics
    • Varani, L., Spillantini, M.G., Goedert, M., and Varani, G. (2000). Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics. Nucleic Acids Res. 28, 710-719.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 710-719
    • Varani, L.1    Spillantini, M.G.2    Goedert, M.3    Varani, G.4
  • 176
    • 0034663307 scopus 로고    scopus 로고
    • High incidence of alternatively spliced forms of deoxycytidine kinase in patients with resistant acute myeloid leukemia
    • Veuger, M.J., Honders, M.W., Landegent, J.E., Willemze, R., and Barge, R.M. (2000). High incidence of alternatively spliced forms of deoxycytidine kinase in patients with resistant acute myeloid leukemia. Blood 96, 1517-1524.
    • (2000) Blood , vol.96 , pp. 1517-1524
    • Veuger, M.J.1    Honders, M.W.2    Landegent, J.E.3    Willemze, R.4    Barge, R.M.5
  • 177
    • 0032715473 scopus 로고    scopus 로고
    • Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
    • Vitali, T., Sossi, V., Tiziano, F., Zappata, S., Giuli, A., Paravatou-Petsotas, M., Neri, G., and Brahe, C. (1999). Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. Hum. Mol. Genet. 8, 2525-2532.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2525-2532
    • Vitali, T.1    Sossi, V.2    Tiziano, F.3    Zappata, S.4    Giuli, A.5    Paravatou-Petsotas, M.6    Neri, G.7    Brahe, C.8
  • 179
    • 0034682505 scopus 로고    scopus 로고
    • Induction of wildtype p53 activity in human cancer cells by ribozymes that repair mutant p53 transcripts
    • Watanabe, T., and Sullenger, B.A. (2000). Induction of wildtype p53 activity in human cancer cells by ribozymes that repair mutant p53 transcripts. Proc. Natl. Acad. Sci. USA 97, 8490-8494.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 8490-8494
    • Watanabe, T.1    Sullenger, B.A.2
  • 180
    • 0035421277 scopus 로고    scopus 로고
    • Regulation of alternative pre-mRNA splicing by the ERK MAP-kinase pathway
    • Weg-Remers, S., Ponta, H., Herrlich, P., and Konig, H. (2001). Regulation of alternative pre-mRNA splicing by the ERK MAP-kinase pathway. EMBO J. 20, 4194-4203.
    • (2001) EMBO J. , vol.20 , pp. 4194-4203
    • Weg-Remers, S.1    Ponta, H.2    Herrlich, P.3    Konig, H.4
  • 181
    • 0030250111 scopus 로고    scopus 로고
    • The role of heterogeneous nuclear ribonucleoproteins (hnRNP) in RNA metabolism
    • Weighardt, F., Biamonti, G., and Riva, S. (1996). The role of heterogeneous nuclear ribonucleoproteins (hnRNP) in RNA metabolism. BioEssays 18, 747-756.
    • (1996) BioEssays , vol.18 , pp. 747-756
    • Weighardt, F.1    Biamonti, G.2    Riva, S.3
  • 182
    • 0034255911 scopus 로고    scopus 로고
    • RNA as a drug target: Methods for biophysical characterization and screening
    • Xavier, K.A., Eder, P.S., and Giordano, T. (2000). RNA as a drug target: Methods for biophysical characterization and screening. Trends Biotechnol. 18, 349-356.
    • (2000) Trends Biotechnol. , vol.18 , pp. 349-356
    • Xavier, K.A.1    Eder, P.S.2    Giordano, T.3
  • 183
    • 0032540395 scopus 로고    scopus 로고
    • Control of alternative splicing of potassium channels by stress hormones
    • Xie, J., and McCobb, D.P. (1998). Control of alternative splicing of potassium channels by stress hormones. Science 280, 443-446.
    • (1998) Science , vol.280 , pp. 443-446
    • Xie, J.1    McCobb, D.P.2
  • 185
    • 0032803444 scopus 로고    scopus 로고
    • Familial hypercholesterolemia. Acceptor splice site (G → C) mutation in intron 7 of the LDL-R gene: Alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(_1)G → C]
    • Yu, L., Heere-Ress, E., Boucher, B., Defesche, J.C., Kastelein, J., Lavoie, M.A., and Genest, J., JR. (1999). Familial hypercholesterolemia. Acceptor splice site (G → C) mutation in intron 7 of the LDL-R gene: Alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(_1)G → C]. Atherosclerosis 146, 125-131.
    • (1999) Atherosclerosis , vol.146 , pp. 125-131
    • Yu, L.1    Heere-Ress, E.2    Boucher, B.3    Defesche, J.C.4    Kastelein, J.5    Lavoie, M.A.6    Genest J., Jr.7
  • 186
    • 0034877670 scopus 로고    scopus 로고
    • RNA interference: Listening to the sound of silence
    • Zamore, P.D. (2001). RNA interference: Listening to the sound of silence. Nat. Struct. Biol. 8, 746-750.
    • (2001) Nat. Struct. Biol. , vol.8 , pp. 746-750
    • Zamore, P.D.1
  • 187
    • 0030292856 scopus 로고    scopus 로고
    • Multiple splicing variants of the estrogen receptor are present in individual human breast tumors
    • Zhang, Q.X., Hilsenbeck, S.G., Fuqua, S.A., and Borg, A. (1996). Multiple splicing variants of the estrogen receptor are present in individual human breast tumors. J. Steroid Biochem. Mol. Biol. 59, 251-260.
    • (1996) J. Steroid Biochem. Mol. Biol. , vol.59 , pp. 251-260
    • Zhang, Q.X.1    Hilsenbeck, S.G.2    Fuqua, S.A.3    Borg, A.4
  • 188
    • 0032478078 scopus 로고    scopus 로고
    • A splicing variant of a death domain protein that is regulated by a mitogen-activated kinase is a substrate for c-Jun N-terminal kinase in the human central nervous system
    • Zhang, Y., Zhou, L., and Miller, C.A. (1998). A splicing variant of a death domain protein that is regulated by a mitogen-activated kinase is a substrate for c-Jun N-terminal kinase in the human central nervous system. Proc. Natl. Acad. Sci. USA 95, 2586-2591.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 2586-2591
    • Zhang, Y.1    Zhou, L.2    Miller, C.A.3
  • 189


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.