메뉴 건너뛰기




Volumn 14, Issue 1, 2016, Pages

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

Author keywords

Alternative splicing; Cross linking immunoprecipitation (CLIP); HnRNP A1; ICLIP; Pseudoexons; RNA seq; Splicing silencer; Splicing splice switching oligonucleotides (SSOs); Surface plasmon resonance imaging (SPRi)

Indexed keywords

CROSS LINKING REAGENT; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN GROUP A B; HNRNP A1; NUCLEOTIDE; OLIGONUCLEOTIDE; RNA SPLICE SITE; TRANSCRIPTOME;

EID: 84984622090     PISSN: None     EISSN: 17417007     Source Type: Journal    
DOI: 10.1186/s12915-016-0279-9     Document Type: Article
Times cited : (60)

References (96)
  • 1
    • 79960594889 scopus 로고    scopus 로고
    • Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
    • Lim KH, Ferraris L, Filloux ME, Raphael BJ, Fairbrother WG. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci U S A. 2011;108(27):11093-8. doi: 10.1073/pnas.1101135108. PubMed PMID: ISI:000292376700038.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.27 , pp. 11093-11098
    • Lim, K.H.1    Ferraris, L.2    Filloux, M.E.3    Raphael, B.J.4    Fairbrother, W.G.5
  • 2
    • 79960607075 scopus 로고    scopus 로고
    • Loss of exon identity is a common mechanism of human inherited disease
    • Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR. Loss of exon identity is a common mechanism of human inherited disease. Genome Res. 2011;21(10):1563-71. doi: 10.1101/gr.118638. PubMed PMID: ISI:000295407800001.
    • (2011) Genome Res , vol.21 , Issue.10 , pp. 1563-1571
    • Sterne-Weiler, T.1    Howard, J.2    Mort, M.3    Cooper, D.N.4    Sanford, J.R.5
  • 3
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999;96(11):6307-11. PubMed PMID: 10339583, PubMed Central PMCID: PMC26877, Epub 1999/05/26.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , Issue.11 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 4
    • 29244490598 scopus 로고    scopus 로고
    • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
    • Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet. 2006;78(1):63-77. doi: 10.1086/498853. PubMed PMID: 16385450, PubMed Central PMCID: PMC1380224, Epub 2005/12/31.
    • (2006) Am J Hum Genet , vol.78 , Issue.1 , pp. 63-77
    • Cartegni, L.1    Hastings, M.L.2    Calarco, J.A.3    Stanchina, E.4    Krainer, A.R.5
  • 5
    • 36248987806 scopus 로고    scopus 로고
    • hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
    • Kashima T, Rao N, David CJ, Manley JL. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum Mol Genet. 2007;16(24):3149-59. doi: 10.1093/hmg/ddm276. Epub 2007/09/22.
    • (2007) Hum Mol Genet , vol.16 , Issue.24 , pp. 3149-3159
    • Kashima, T.1    Rao, N.2    David, C.J.3    Manley, J.L.4
  • 6
    • 0842289003 scopus 로고    scopus 로고
    • An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
    • Singh NN, Androphy EJ, Singh RN. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem Biophys Res Commun. 2004;315(2):381-8. doi: 10.1016/j.bbrc.2004.01.067. Epub 2004/02/10.
    • (2004) Biochem Biophys Res Commun , vol.315 , Issue.2 , pp. 381-388
    • Singh, N.N.1    Androphy, E.J.2    Singh, R.N.3
  • 7
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet. 2003;34(4):460-3. doi: 10.1038/ng1207. Epub 2003/07/02.
    • (2003) Nat Genet , vol.34 , Issue.4 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 8
    • 33847241832 scopus 로고    scopus 로고
    • Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
    • Nielsen KB, Sorensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, et al. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet. 2007;80(3):416-32. doi: 10.1086/511992. PubMed PMID: ISI:000244403300003.
    • (2007) Am J Hum Genet , vol.80 , Issue.3 , pp. 416-432
    • Nielsen, K.B.1    Sorensen, S.2    Cartegni, L.3    Corydon, T.J.4    Doktor, T.K.5    Schroeder, L.D.6
  • 9
    • 63849152847 scopus 로고    scopus 로고
    • Progress toward therapy with antisense-mediated splicing modulation
    • Du L, Gatti RA. Progress toward therapy with antisense-mediated splicing modulation. Curr Opin Mol Ther. 2009;11(2):116-23. PubMed PMID: 19330717, PubMed Central PMCID: PMC2753608, Epub 2009/03/31.
    • (2009) Curr Opin Mol Ther , vol.11 , Issue.2 , pp. 116-123
    • Du, L.1    Gatti, R.A.2
  • 10
    • 84901830311 scopus 로고    scopus 로고
    • Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases
    • Veltrop M, Aartsma-Rus A. Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases. Exp Cell Res. 2014;325(1):50-5. doi: 10.1016/j.yexcr.2014.01.026. Epub 2014/02/04.
    • (2014) Exp Cell Res , vol.325 , Issue.1 , pp. 50-55
    • Veltrop, M.1    Aartsma-Rus, A.2
  • 11
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet. 2008;82(4):834-48. doi: 10.1016/j.ajhg.2008.01.014. PubMed PMID: 18371932, PubMed Central PMCID: PMC2427210, Epub 2008/03/29.
    • (2008) Am J Hum Genet , vol.82 , Issue.4 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3    Bennett, C.F.4    Krainer, A.R.5
  • 12
    • 32044445564 scopus 로고    scopus 로고
    • Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
    • Singh NK, Singh NN, Androphy EJ, Singh RN. Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol. 2006;26(4):1333-46. doi: 10.1128/MCB.26.4.1333-1346.2006. PubMed PMID: 16449646, PubMed Central PMCID: PMC1367187, Epub 2006/02/02.
    • (2006) Mol Cell Biol , vol.26 , Issue.4 , pp. 1333-1346
    • Singh, N.K.1    Singh, N.N.2    Androphy, E.J.3    Singh, R.N.4
  • 13
    • 67650480122 scopus 로고    scopus 로고
    • A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
    • Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol. 2009;6(3):341-50. PubMed PMID: 19430205, PubMed Central PMCID: PMC2734876, Epub 2009/05/12.
    • (2009) RNA Biol , vol.6 , Issue.3 , pp. 341-350
    • Singh, N.N.1    Shishimorova, M.2    Cao, L.C.3    Gangwani, L.4    Singh, R.N.5
  • 14
    • 84869106125 scopus 로고    scopus 로고
    • Antisense-based therapy for the treatment of spinal muscular atrophy
    • Rigo F, Hua Y, Krainer AR, Bennett CF. Antisense-based therapy for the treatment of spinal muscular atrophy. J Cell Biol. 2012;199(1):21-5. doi: 10.1083/jcb.201207087. PubMed PMID: 23027901, PubMed Central PMCID: PMC3461520, Epub 2012/10/03.
    • (2012) J Cell Biol , vol.199 , Issue.1 , pp. 21-25
    • Rigo, F.1    Hua, Y.2    Krainer, A.R.3    Bennett, C.F.4
  • 15
    • 84922255144 scopus 로고    scopus 로고
    • Context-dependent control of alternative splicing by RNA-binding proteins
    • Fu XD, Ares Jr M. Context-dependent control of alternative splicing by RNA-binding proteins. Nature Reviews Genet. 2014. doi: 10.1038/nrg3778.Epub2014/08/13.
    • (2014) Nature Reviews Genet
    • Fu, X.D.1    Ares, M.2
  • 16
    • 84860268701 scopus 로고    scopus 로고
    • The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes
    • Anko ML, Muller-McNicoll M, Brandl H, Curk T, Gorup C, Henry I, et al. The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes. Genome Biol. 2012;13(3):R17. doi: 10.1186/gb-2012-13-3-r17. PubMed PMID: 22436691, PubMed Central PMCID: PMC3439968, Epub 2012/03/23.
    • (2012) Genome Biol , vol.13 , Issue.3 , pp. R17
    • Anko, M.L.1    Muller-McNicoll, M.2    Brandl, H.3    Curk, T.4    Gorup, C.5    Henry, I.6
  • 17
    • 84861161751 scopus 로고    scopus 로고
    • Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins
    • Huelga SC, Vu AQ, Arnold JD, Liang TY, Liu PP, Yan BY, et al. Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins. Cell Rep. 2012;1(2):167-78. doi: 10.1016/j.celrep.2012.02.001. PubMed PMID: 22574288, PubMed Central PMCID: PMC3345519, Epub 2012/05/11.
    • (2012) Cell Rep , vol.1 , Issue.2 , pp. 167-178
    • Huelga, S.C.1    Vu, A.Q.2    Arnold, J.D.3    Liang, T.Y.4    Liu, P.P.5    Yan, B.Y.6
  • 18
    • 77954387023 scopus 로고    scopus 로고
    • iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution
    • Konig J, Zarnack K, Rot G, Curk T, Kayikci M, Zupan B, et al. iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution. Nat Struct Mol Biol. 2010;17(7):909-15. doi: 10.1038/nsmb.1838. PubMed PMID: 20601959, PubMed Central PMCID: PMC3000544, Epub 2010/07/06.
    • (2010) Nat Struct Mol Biol , vol.17 , Issue.7 , pp. 909-915
    • Konig, J.1    Zarnack, K.2    Rot, G.3    Curk, T.4    Kayikci, M.5    Zupan, B.6
  • 19
    • 84859768482 scopus 로고    scopus 로고
    • CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay
    • Masuda A, Andersen HS, Doktor TK, Okamoto T, Ito M, Andresen BS, et al. CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. Sci Rep. 2012;2:209. doi: 10.1038/srep00209. PubMed PMID: 22355723, PubMed Central PMCID: PMC3250574, Epub 2012/02/23.
    • (2012) Sci Rep. , vol.2 , pp. 209
    • Masuda, A.1    Andersen, H.S.2    Doktor, T.K.3    Okamoto, T.4    Ito, M.5    Andresen, B.S.6
  • 20
    • 84876839218 scopus 로고    scopus 로고
    • Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing
    • Pandit S, Zhou Y, Shiue L, Coutinho-Mansfield G, Li H, Qiu J, et al. Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing. Mol Cell. 2013;50(2):223-35. doi: 10.1016/j.molcel.2013.03.001. PubMed PMID: 23562324, PubMed Central PMCID: PMC3640356, Epub 2013/04/09.
    • (2013) Mol Cell , vol.50 , Issue.2 , pp. 223-235
    • Pandit, S.1    Zhou, Y.2    Shiue, L.3    Coutinho-Mansfield, G.4    Li, H.5    Qiu, J.6
  • 21
    • 84896885113 scopus 로고    scopus 로고
    • Crosslinking-immunoprecipitation (iCLIP) analysis reveals global regulatory roles of hnRNP L
    • Rossbach O, Hung LH, Khrameeva E, Schreiner S, Konig J, Curk T, et al. Crosslinking-immunoprecipitation (iCLIP) analysis reveals global regulatory roles of hnRNP L. RNA Biol. 2014;11(2):146-55. doi: 10.4161/rna.27991. PubMed PMID: 24526010, PubMed Central PMCID: PMC3973733, Epub 2014/02/15.
    • (2014) RNA Biol , vol.11 , Issue.2 , pp. 146-155
    • Rossbach, O.1    Hung, L.H.2    Khrameeva, E.3    Schreiner, S.4    Konig, J.5    Curk, T.6
  • 22
    • 61849139645 scopus 로고    scopus 로고
    • Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts
    • Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, et al. Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res. 2009;19(3):381-94. doi: 10.1101/gr.082503.108. PubMed PMID: 19116412, PubMed Central PMCID: PMC2661799, Epub 2009/01/01.
    • (2009) Genome Res , vol.19 , Issue.3 , pp. 381-394
    • Sanford, J.R.1    Wang, X.2    Mort, M.3    Vanduyn, N.4    Cooper, D.N.5    Mooney, S.D.6
  • 23
    • 0242497663 scopus 로고    scopus 로고
    • CLIP identifies Nova-regulated RNA networks in the brain
    • Ule J, Jensen KB, Ruggiu M, Mele A, Ule A, Darnell RB. CLIP identifies Nova-regulated RNA networks in the brain. Science. 2003;302(5648):1212-5. doi: 10.1126/science.1090095. Epub 2003/11/15.
    • (2003) Science , vol.302 , Issue.5648 , pp. 1212-1215
    • Ule, J.1    Jensen, K.B.2    Ruggiu, M.3    Mele, A.4    Ule, A.5    Darnell, R.B.6
  • 24
    • 84897051164 scopus 로고    scopus 로고
    • HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism
    • Weyn-Vanhentenryck SM, Mele A, Yan Q, Sun S, Farny N, Zhang Z, et al. HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism. Cell Rep. 2014;6(6):1139-52. doi: 10.1016/j.celrep.2014.02.005. PubMed PMID: 24613350, PubMed Central PMCID: PMC3992522, Epub 2014/03/13.
    • (2014) Cell Rep , vol.6 , Issue.6 , pp. 1139-1152
    • Weyn-Vanhentenryck, S.M.1    Mele, A.2    Yan, Q.3    Sun, S.4    Farny, N.5    Zhang, Z.6
  • 25
    • 0028215301 scopus 로고
    • RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing
    • Burd CG, Dreyfuss G. RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing. EMBO J. 1994;13(5):1197-204. PubMed PMID: 7510636, PubMed Central PMCID: PMC394929, Epub 1994/03/01.
    • (1994) EMBO J , vol.13 , Issue.5 , pp. 1197-1204
    • Burd, C.G.1    Dreyfuss, G.2
  • 26
    • 84884181118 scopus 로고    scopus 로고
    • hnRNP A1: the Swiss army knife of gene expression
    • Jean-Philippe J, Paz S, Caputi M. hnRNP A1: the Swiss army knife of gene expression. Int J Mol Sci. 2013;14(9):18999-9024. doi: 10.3390/ijms140918999. PubMed PMID: 24065100, PubMed Central PMCID: PMC3794818, Epub 2013/09/26.
    • (2013) Int J Mol Sci , vol.14 , Issue.9 , pp. 18999-19024
    • Jean-Philippe, J.1    Paz, S.2    Caputi, M.3
  • 27
    • 84880676352 scopus 로고    scopus 로고
    • Isolated pseudo-RNA-recognition motifs of SR proteins can regulate splicing using a noncanonical mode of RNA recognition
    • Clery A, Sinha R, Anczukow O, Corrionero A, Moursy A, Daubner GM, et al. Isolated pseudo-RNA-recognition motifs of SR proteins can regulate splicing using a noncanonical mode of RNA recognition. Proc Natl Acad Sci U S A. 2013;110(30):E2802-11. doi: 10.1073/pnas.1303445110. PubMed PMID: 23836656, PubMed Central PMCID: PMC3725064, Epub 2013/07/10.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , Issue.30 , pp. E2802-E2811
    • Clery, A.1    Sinha, R.2    Anczukow, O.3    Corrionero, A.4    Moursy, A.5    Daubner, G.M.6
  • 28
    • 0033762534 scopus 로고    scopus 로고
    • Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1
    • Eperon IC, Makarova OV, Mayeda A, Munroe SH, Caceres JF, Hayward DG, et al. Selection of alternative 5' splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1. Mol Cell Biol. 2000;20(22):8303-18. PubMed PMID: 11046128, PubMed Central PMCID: PMC102138, Epub 2000/10/25.
    • (2000) Mol Cell Biol , vol.20 , Issue.22 , pp. 8303-8318
    • Eperon, I.C.1    Makarova, O.V.2    Mayeda, A.3    Munroe, S.H.4    Caceres, J.F.5    Hayward, D.G.6
  • 29
    • 84885918518 scopus 로고    scopus 로고
    • HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition
    • Bonomi S, di Matteo A, Buratti E, Cabianca DS, Baralle FE, Ghigna C, et al. HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition. Nucleic Acids Res. 2013;41(18):8665-79. doi: 10.1093/nar/gkt579. PubMed PMID: 23863836, PubMed Central PMCID: PMC3794575, Epub 2013/07/19.
    • (2013) Nucleic Acids Res , vol.41 , Issue.18 , pp. 8665-8679
    • Bonomi, S.1    Matteo, A.2    Buratti, E.3    Cabianca, D.S.4    Baralle, F.E.5    Ghigna, C.6
  • 30
    • 0035886048 scopus 로고    scopus 로고
    • The hnRNP A1 protein regulates HIV-1 tat splicing via a novel intron silencer element
    • Tange TO, Damgaard CK, Guth S, Valcarcel J, Kjems J. The hnRNP A1 protein regulates HIV-1 tat splicing via a novel intron silencer element. EMBO J. 2001;20(20):5748-58. doi: 10.1093/emboj/20.20.5748. PubMed PMID: 11598017, PubMed Central PMCID: PMC125679, Epub 2001/10/13.
    • (2001) EMBO J , vol.20 , Issue.20 , pp. 5748-5758
    • Tange, T.O.1    Damgaard, C.K.2    Guth, S.3    Valcarcel, J.4    Kjems, J.5
  • 31
    • 70350433635 scopus 로고    scopus 로고
    • Cooperative-binding and splicing-repressive properties of hnRNP A1
    • Okunola HL, Krainer AR. Cooperative-binding and splicing-repressive properties of hnRNP A1. Mol Cell Biol. 2009;29(20):5620-31. doi: 10.1128/MCB.01678-08. PubMed PMID: 19667073, PubMed Central PMCID: PMC2756886, Epub 2009/08/12.
    • (2009) Mol Cell Biol , vol.29 , Issue.20 , pp. 5620-5631
    • Okunola, H.L.1    Krainer, A.R.2
  • 32
    • 0036674179 scopus 로고    scopus 로고
    • High-affinity hnRNP A1 binding sites and duplex-forming inverted repeats have similar effects on 5' splice site selection in support of a common looping out and repression mechanism
    • Nasim FU, Hutchison S, Cordeau M, Chabot B. High-affinity hnRNP A1 binding sites and duplex-forming inverted repeats have similar effects on 5' splice site selection in support of a common looping out and repression mechanism. RNA. 2002;8(8):1078-89. PubMed PMID: 12212851, PubMed Central PMCID: PMC1370318, Epub 2002/09/06.
    • (2002) RNA , vol.8 , Issue.8 , pp. 1078-1089
    • Nasim, F.U.1    Hutchison, S.2    Cordeau, M.3    Chabot, B.4
  • 33
    • 0033119060 scopus 로고    scopus 로고
    • Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization
    • Blanchette M, Chabot B. Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization. EMBO J. 1999;18(7):1939-52. doi: 10.1093/emboj/18.7.1939. PubMed PMID: 10202157, PubMed Central PMCID: PMC1171279, Epub 1999/04/15.
    • (1999) EMBO J , vol.18 , Issue.7 , pp. 1939-1952
    • Blanchette, M.1    Chabot, B.2
  • 34
    • 33244483620 scopus 로고    scopus 로고
    • Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing
    • Martinez-Contreras R, Fisette JF, Nasim FU, Madden R, Cordeau M, Chabot B. Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing. PLoS Biol. 2006;4(2):e21. doi: 10.1371/journal.pbio.0040021. PubMed PMID: 16396608, PubMed Central PMCID: PMC1326234, Epub 2006/01/07.
    • (2006) PLoS Biol , vol.4 , Issue.2 , pp. e21
    • Martinez-Contreras, R.1    Fisette, J.F.2    Nasim, F.U.3    Madden, R.4    Cordeau, M.5    Chabot, B.6
  • 35
    • 77955526422 scopus 로고    scopus 로고
    • Deregulated expression of hnRNP A/B proteins in human non-small cell lung cancer: parallel assessment of protein and mRNA levels in paired tumour/non-tumour tissues
    • Boukakis G, Patrinou-Georgoula M, Lekarakou M, Valavanis C, Guialis A. Deregulated expression of hnRNP A/B proteins in human non-small cell lung cancer: parallel assessment of protein and mRNA levels in paired tumour/non-tumour tissues. BMC Cancer. 2010;10:434. doi: 10.1186/1471-2407-10-434. PubMed PMID: 20716340, PubMed Central PMCID: PMC2933625, Epub 2010/08/19.
    • (2010) BMC Cancer. , vol.10 , pp. 434
    • Boukakis, G.1    Patrinou-Georgoula, M.2    Lekarakou, M.3    Valavanis, C.4    Guialis, A.5
  • 36
  • 37
    • 0037491683 scopus 로고    scopus 로고
    • Altered patterns of expression of members of the heterogeneous nuclear ribonucleoprotein (hnRNP) family in lung cancer
    • Pino I, Pio R, Toledo G, Zabalegui N, Vicent S, Rey N, et al. Altered patterns of expression of members of the heterogeneous nuclear ribonucleoprotein (hnRNP) family in lung cancer. Lung Cancer. 2003;41(2):131-43. Epub 2003/07/23.
    • (2003) Lung Cancer , vol.41 , Issue.2 , pp. 131-143
    • Pino, I.1    Pio, R.2    Toledo, G.3    Zabalegui, N.4    Vicent, S.5    Rey, N.6
  • 38
    • 0345275873 scopus 로고    scopus 로고
    • Small interfering RNA-mediated reduction in heterogeneous nuclear ribonucleoparticule A1/A2 proteins induces apoptosis in human cancer cells but not in normal mortal cell lines
    • Patry C, Bouchard L, Labrecque P, Gendron D, Lemieux B, Toutant J, et al. Small interfering RNA-mediated reduction in heterogeneous nuclear ribonucleoparticule A1/A2 proteins induces apoptosis in human cancer cells but not in normal mortal cell lines. Cancer Res. 2003;63(22):7679-88. Epub 2003/11/25.
    • (2003) Cancer Res , vol.63 , Issue.22 , pp. 7679-7688
    • Patry, C.1    Bouchard, L.2    Labrecque, P.3    Gendron, D.4    Lemieux, B.5    Toutant, J.6
  • 39
    • 84864795907 scopus 로고    scopus 로고
    • Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice
    • Berson A, Barbash S, Shaltiel G, Goll Y, Hanin G, Greenberg DS, et al. Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice. EMBO Mol Med. 2012;4(8):730-42. doi: 10.1002/emmm.201100995. PubMed PMID: 22628224, PubMed Central PMCID: PMC3494073, Epub 2012/05/26.
    • (2012) EMBO Mol Med , vol.4 , Issue.8 , pp. 730-742
    • Berson, A.1    Barbash, S.2    Shaltiel, G.3    Goll, Y.4    Hanin, G.5    Greenberg, D.S.6
  • 40
    • 84890788548 scopus 로고    scopus 로고
    • The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency
    • Olsen RK, Broner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, et al. The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency. Hum Mutat. 2014;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013/10/15.
    • (2014) Hum Mutat , vol.35 , Issue.1 , pp. 86-95
    • Olsen, R.K.1    Broner, S.2    Sabaratnam, R.3    Doktor, T.K.4    Andersen, H.S.5    Bruun, G.H.6
  • 41
    • 77954656632 scopus 로고    scopus 로고
    • The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer
    • Dobrowolski SF, Andersen HS, Doktor TK, Andresen BS. The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer. Mol Genet Metab. 2010;100(4):316-23. doi: 10.1016/j.ymgme.2010.04.002. Epub 2010/05/12.
    • (2010) Mol Genet Metab , vol.100 , Issue.4 , pp. 316-323
    • Dobrowolski, S.F.1    Andersen, H.S.2    Doktor, T.K.3    Andresen, B.S.4
  • 42
    • 84894056238 scopus 로고    scopus 로고
    • HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism
    • Yu CY, Theusch E, Lo K, Mangravite LM, Naidoo D, Kutilova M, et al. HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism. Hum Mol Genet. 2014;23(2):319-32. doi: 10.1093/hmg/ddt422. PubMed PMID: 24001602, PubMed Central PMCID: PMC3869353, Epub 2013/09/05.
    • (2014) Hum Mol Genet , vol.23 , Issue.2 , pp. 319-332
    • Yu, C.Y.1    Theusch, E.2    Lo, K.3    Mangravite, L.M.4    Naidoo, D.5    Kutilova, M.6
  • 43
    • 84882897781 scopus 로고    scopus 로고
    • A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation
    • Bruun GH, Doktor TK, Andresen BS. A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. Mol Genet Metab. 2013;110(1-2):122-8. doi: 10.1016/j.ymgme.2013.06.005. Epub 2013/07/03.
    • (2013) Mol Genet Metab , vol.110 , Issue.1-2 , pp. 122-128
    • Bruun, G.H.1    Doktor, T.K.2    Andresen, B.S.3
  • 44
    • 84894233636 scopus 로고    scopus 로고
    • iCLIP: protein-RNA interactions at nucleotide resolution
    • Huppertz I, Attig J, D'Ambrogio A, Easton LE, Sibley CR, Sugimoto Y, et al. iCLIP: protein-RNA interactions at nucleotide resolution. Methods. 2014;65(3):274-87. doi: 10.1016/j.ymeth.2013.10.011. PubMed PMID: 24184352, PubMed Central PMCID: PMC3988997, Epub 2013/11/05.
    • (2014) Methods , vol.65 , Issue.3 , pp. 274-287
    • Huppertz, I.1    Attig, J.2    D'Ambrogio, A.3    Easton, L.E.4    Sibley, C.R.5    Sugimoto, Y.6
  • 45
    • 0038401969 scopus 로고    scopus 로고
    • Role of the modular domains of SR proteins in subnuclear localization and alternative splicing specificity
    • Caceres JF, Misteli T, Screaton GR, Spector DL, Krainer AR. Role of the modular domains of SR proteins in subnuclear localization and alternative splicing specificity. J Cell Biol. 1997;138(2):225-38. PubMed PMID: 9230067, PubMed Central PMCID: PMC2138183, Epub 1997/07/28.
    • (1997) J Cell Biol , vol.138 , Issue.2 , pp. 225-238
    • Caceres, J.F.1    Misteli, T.2    Screaton, G.R.3    Spector, D.L.4    Krainer, A.R.5
  • 46
    • 14844367002 scopus 로고    scopus 로고
    • Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock
    • Allemand E, Guil S, Myers M, Moscat J, Caceres JF, Krainer AR. Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock. Proc Natl Acad Sci U S A. 2005;102(10):3605-10. doi: 10.1073/pnas.0409889102. PubMed PMID: 15738418, PubMed Central PMCID: PMC553333, Epub 2005/03/02.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , Issue.10 , pp. 3605-3610
    • Allemand, E.1    Guil, S.2    Myers, M.3    Moscat, J.4    Caceres, J.F.5    Krainer, A.R.6
  • 47
    • 80455179726 scopus 로고    scopus 로고
    • ICLIP--transcriptome-wide mapping of protein-RNA interactions with individual nucleotide resolution.
    • Epub 2011/05/12. doi: 10.3791/2638. PubMed PMID: 21559008; PubMed Central PMCID: PMC3169244
    • Konig J, Zarnack K, Rot G, Curk T, Kayikci M, Zupan B, et al. iCLIP--transcriptome-wide mapping of protein-RNA interactions with individual nucleotide resolution. J Vis Exp. 2011;(50). Epub 2011/05/12. doi: 10.3791/2638. PubMed PMID: 21559008; PubMed Central PMCID: PMC3169244
    • (2011) J Vis Exp , vol.50
    • Konig, J.1    Zarnack, K.2    Rot, G.3    Curk, T.4    Kayikci, M.5    Zupan, B.6
  • 48
    • 79960230895 scopus 로고    scopus 로고
    • Mapping in vivo protein-RNA interactions at single-nucleotide resolution from HITS-CLIP data
    • Zhang C, Darnell RB. Mapping in vivo protein-RNA interactions at single-nucleotide resolution from HITS-CLIP data. Nat Biotechnol. 2011;29(7):607-14. doi: 10.1038/nbt.1873. PubMed PMID: 21633356, PubMed Central PMCID: PMC3400429, Epub 2011/06/03.
    • (2011) Nat Biotechnol , vol.29 , Issue.7 , pp. 607-614
    • Zhang, C.1    Darnell, R.B.2
  • 49
    • 67649854477 scopus 로고    scopus 로고
    • Identification of protein binding sites on U3 snoRNA and pre-rRNA by UV cross-linking and high-throughput analysis of cDNAs
    • Granneman S, Kudla G, Petfalski E, Tollervey D. Identification of protein binding sites on U3 snoRNA and pre-rRNA by UV cross-linking and high-throughput analysis of cDNAs. Proc Natl Acad Sci U S A. 2009;106(24):9613-8. doi: 10.1073/pnas.0901997106. PubMed PMID: 19482942, PubMed Central PMCID: PMC2688437, Epub 2009/06/02.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.24 , pp. 9613-9618
    • Granneman, S.1    Kudla, G.2    Petfalski, E.3    Tollervey, D.4
  • 50
    • 27944508215 scopus 로고    scopus 로고
    • CLIP: a method for identifying protein-RNA interaction sites in living cells
    • Ule J, Jensen K, Mele A, Darnell RB. CLIP: a method for identifying protein-RNA interaction sites in living cells. Methods. 2005;37(4):376-86. doi: 10.1016/j.ymeth.2005.07.018. Epub 2005/11/30.
    • (2005) Methods , vol.37 , Issue.4 , pp. 376-386
    • Ule, J.1    Jensen, K.2    Mele, A.3    Darnell, R.B.4
  • 51
    • 84939155584 scopus 로고    scopus 로고
    • Improved binding site assignment by high-resolution mapping of RNA-protein interactions using iCLIP
    • Hauer C, Curk T, Anders S, Schwarzl T, Alleaume AM, Sieber J, et al. Improved binding site assignment by high-resolution mapping of RNA-protein interactions using iCLIP. Nat Commun. 2015;6:7921. doi: 10.1038/ncomms8921. Epub 2015/08/12.
    • (2015) Nat Commun. , vol.6 , pp. 7921
    • Hauer, C.1    Curk, T.2    Anders, S.3    Schwarzl, T.4    Alleaume, A.M.5    Sieber, J.6
  • 52
    • 0028157139 scopus 로고
    • The C-protein tetramer binds 230 to 240 nucleotides of pre-mRNA and nucleates the assembly of 40S heterogeneous nuclear ribonucleoprotein particles
    • Huang M, Rech JE, Northington SJ, Flicker PF, Mayeda A, Krainer AR, et al. The C-protein tetramer binds 230 to 240 nucleotides of pre-mRNA and nucleates the assembly of 40S heterogeneous nuclear ribonucleoprotein particles. Mol Cell Biol. 1994;14(1):518-33. PubMed PMID: 8264621, PubMed Central PMCID: PMC358402, Epub 1994/01/01.
    • (1994) Mol Cell Biol , vol.14 , Issue.1 , pp. 518-533
    • Huang, M.1    Rech, J.E.2    Northington, S.J.3    Flicker, P.F.4    Mayeda, A.5    Krainer, A.R.6
  • 53
    • 84936818673 scopus 로고    scopus 로고
    • Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells
    • Palhais B, Praestegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, et al. Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Res. 2015;43:4627-39. doi: 10.1093/nar/gkv275. Epub 2015/04/17.
    • (2015) Nucleic Acids Res , vol.43 , pp. 4627-4639
    • Palhais, B.1    Praestegaard, V.S.2    Sabaratnam, R.3    Doktor, T.K.4    Lutz, S.5    Burda, P.6
  • 54
    • 0038486897 scopus 로고    scopus 로고
    • Intronic sequences flanking alternatively spliced exons are conserved between human and mouse
    • Sorek R, Ast G. Intronic sequences flanking alternatively spliced exons are conserved between human and mouse. Genome Res. 2003;13(7):1631-7. doi: 10.1101/gr.1208803. PubMed PMID: 12840041, PubMed Central PMCID: PMC403736, Epub 2003/07/04.
    • (2003) Genome Res , vol.13 , Issue.7 , pp. 1631-1637
    • Sorek, R.1    Ast, G.2
  • 55
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11(2-3):377-94. doi: 10.1089/1066527041410418.
    • (2004) J Comput Biol , vol.11 , Issue.2-3 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2
  • 56
    • 84862777397 scopus 로고    scopus 로고
    • Concentration-dependent control of pyruvate kinase M mutually exclusive splicing by hnRNP proteins
    • Chen M, David CJ, Manley JL. Concentration-dependent control of pyruvate kinase M mutually exclusive splicing by hnRNP proteins. Nat Struct Mol Biol. 2012;19(3):346-54. doi: 10.1038/nsmb.2219. PubMed PMID: 22307054, PubMed Central PMCID: PMC3698866, Epub 2012/02/07.
    • (2012) Nat Struct Mol Biol , vol.19 , Issue.3 , pp. 346-354
    • Chen, M.1    David, C.J.2    Manley, J.L.3
  • 57
    • 75149150660 scopus 로고    scopus 로고
    • HnRNP proteins controlled by c-Myc deregulate pyruvate kinase mRNA splicing in cancer
    • David CJ, Chen M, Assanah M, Canoll P, Manley JL. HnRNP proteins controlled by c-Myc deregulate pyruvate kinase mRNA splicing in cancer. Nature. 2010;463(7279):364-8. doi: 10.1038/nature08697. PubMed PMID: 20010808, PubMed Central PMCID: PMC2950088, Epub 2009/12/17.
    • (2010) Nature , vol.463 , Issue.7279 , pp. 364-368
    • David, C.J.1    Chen, M.2    Assanah, M.3    Canoll, P.4    Manley, J.L.5
  • 58
    • 76649102764 scopus 로고    scopus 로고
    • The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism
    • Clower CV, Chatterjee D, Wang Z, Cantley LC, Vander Heiden MG, Krainer AR. The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism. Proc Natl Acad Sci U S A. 2010;107(5):1894-9. doi: 10.1073/pnas.0914845107. PubMed PMID: 20133837, PubMed Central PMCID: PMC2838216, Epub 2010/02/06.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.5 , pp. 1894-1899
    • Clower, C.V.1    Chatterjee, D.2    Wang, Z.3    Cantley, L.C.4    Vander Heiden, M.G.5    Krainer, A.R.6
  • 59
    • 84860197918 scopus 로고    scopus 로고
    • Exon-centric regulation of pyruvate kinase M alternative splicing via mutually exclusive exons
    • Wang Z, Chatterjee D, Jeon HY, Akerman M, Vander Heiden MG, Cantley LC, et al. Exon-centric regulation of pyruvate kinase M alternative splicing via mutually exclusive exons. J Mol Cell Biol. 2012;4(2):79-87. doi: 10.1093/jmcb/mjr030. PubMed PMID: 22044881, PubMed Central PMCID: PMC3493165, Epub 2011/11/03.
    • (2012) J Mol Cell Biol , vol.4 , Issue.2 , pp. 79-87
    • Wang, Z.1    Chatterjee, D.2    Jeon, H.Y.3    Akerman, M.4    Vander Heiden, M.G.5    Cantley, L.C.6
  • 60
    • 84876449975 scopus 로고    scopus 로고
    • Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides
    • Wang Z, Jeon HY, Rigo F, Bennett CF, Krainer AR. Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides. Open Biol. 2012;2(10):120133. doi: 10.1098/rsob.120133. PubMed PMID: 23155487, PubMed Central PMCID: PMC3498831, Epub 2012/11/17.
    • (2012) Open Biol , vol.2 , Issue.10 , pp. 120133
    • Wang, Z.1    Jeon, H.Y.2    Rigo, F.3    Bennett, C.F.4    Krainer, A.R.5
  • 61
    • 33847665554 scopus 로고    scopus 로고
    • An intronic element contributes to splicing repression in spinal muscular atrophy
    • Kashima T, Rao N, Manley JL. An intronic element contributes to splicing repression in spinal muscular atrophy. Proc Natl Acad Sci U S A. 2007;104(9):3426-31. doi: 10.1073/pnas.0700343104. PubMed PMID: 17307868, PubMed Central PMCID: PMC1805620, Epub 2007/02/20.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.9 , pp. 3426-3431
    • Kashima, T.1    Rao, N.2    Manley, J.L.3
  • 62
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30(4):377-84. doi: 10.1038/ng854. Epub 2002/04/02.
    • (2002) Nat Genet , vol.30 , Issue.4 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 63
    • 79551539775 scopus 로고    scopus 로고
    • SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site
    • Doktor TK, Schroeder LD, Vested A, Palmfeldt J, Andersen HS, Gregersen N, et al. SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. Hum Mutat. 2011;32(2):220-30. doi: 10.1002/humu.21419. Epub 2010/12/02.
    • (2011) Hum Mutat , vol.32 , Issue.2 , pp. 220-230
    • Doktor, T.K.1    Schroeder, L.D.2    Vested, A.3    Palmfeldt, J.4    Andersen, H.S.5    Gregersen, N.6
  • 64
    • 84860783506 scopus 로고    scopus 로고
    • Structural and functional organization of the Ska complex, a key component of the kinetochore-microtubule interface
    • Jeyaprakash AA, Santamaria A, Jayachandran U, Chan YW, Benda C, Nigg EA, et al. Structural and functional organization of the Ska complex, a key component of the kinetochore-microtubule interface. Mol Cell. 2012;46(3):274-86. doi: 10.1016/j.molcel.2012.03.005. Epub 2012/04/10.
    • (2012) Mol Cell , vol.46 , Issue.3 , pp. 274-286
    • Jeyaprakash, A.A.1    Santamaria, A.2    Jayachandran, U.3    Chan, Y.W.4    Benda, C.5    Nigg, E.A.6
  • 65
    • 84938091717 scopus 로고    scopus 로고
    • The gene pair PRR11 and SKA2 shares a NF-Y-regulated bidirectional promoter and contributes to lung cancer development
    • Wang Y, Zhang Y, Zhang C, Weng H, Li Y, Cai W, et al. The gene pair PRR11 and SKA2 shares a NF-Y-regulated bidirectional promoter and contributes to lung cancer development. Biochim Biophys Acta. 2015;1849(9):1133-44. doi: 10.1016/j.bbagrm.2015.07.002. Epub 2015/07/15.
    • (2015) Biochim Biophys Acta , vol.1849 , Issue.9 , pp. 1133-1144
    • Wang, Y.1    Zhang, Y.2    Zhang, C.3    Weng, H.4    Li, Y.5    Cai, W.6
  • 66
    • 0036201584 scopus 로고    scopus 로고
    • Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
    • Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002;70(4):994-1002. doi: 10.1086/339431. PubMed PMID: 11828341, PubMed Central PMCID: PMC379133, Epub 2002/02/06.
    • (2002) Am J Hum Genet , vol.70 , Issue.4 , pp. 994-1002
    • Ishii, S.1    Nakao, S.2    Minamikawa-Tachino, R.3    Desnick, R.J.4    Fan, J.Q.5
  • 67
    • 0036544858 scopus 로고    scopus 로고
    • A new type of mutation causes a splicing defect in ATM
    • Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE. A new type of mutation causes a splicing defect in ATM. Nat Genet. 2002;30(4):426-9. doi: 10.1038/ng858. Epub 2002/03/13.
    • (2002) Nat Genet , vol.30 , Issue.4 , pp. 426-429
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Bendix, R.4    Dork, T.5    Baralle, F.E.6
  • 68
    • 0036934214 scopus 로고    scopus 로고
    • Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome
    • King K, Flinter FA, Nihalani V, Green PM. Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. Hum Genet. 2002;111(6):548-54. doi: 10.1007/s00439-002-0830-3. Epub 2002/11/19.
    • (2002) Hum Genet , vol.111 , Issue.6 , pp. 548-554
    • King, K.1    Flinter, F.A.2    Nihalani, V.3    Green, P.M.4
  • 69
    • 36749049831 scopus 로고    scopus 로고
    • Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
    • Rincon A, Aguado C, Desviat LR, Sanchez-Alcudia R, Ugarte M, Perez B. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet. 2007;81(6):1262-70. doi: 10.1086/522376. PubMed PMID: 17966092, PubMed Central PMCID: PMC2276355, Epub 2007/10/30.
    • (2007) Am J Hum Genet , vol.81 , Issue.6 , pp. 1262-1270
    • Rincon, A.1    Aguado, C.2    Desviat, L.R.3    Sanchez-Alcudia, R.4    Ugarte, M.5    Perez, B.6
  • 70
    • 71049130202 scopus 로고    scopus 로고
    • Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Faa V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, et al. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem. 2009;284(44):30024-31. doi: 10.1074/jbc.M109.032623. PubMed PMID: 19759008, PubMed Central PMCID: PMC2781556, Epub 2009/09/18.
    • (2009) J Biol Chem , vol.284 , Issue.44 , pp. 30024-30031
    • Faa, V.1    Incani, F.2    Meloni, A.3    Corda, D.4    Masala, M.5    Baffico, A.M.6
  • 71
    • 59749094710 scopus 로고    scopus 로고
    • A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
    • Davis RL, Homer VM, George PM, Brennan SO. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat. 2009;30(2):221-7. doi: 10.1002/humu.20839. Epub 2008/10/15.
    • (2009) Hum Mutat , vol.30 , Issue.2 , pp. 221-227
    • Davis, R.L.1    Homer, V.M.2    George, P.M.3    Brennan, S.O.4
  • 72
    • 77950450545 scopus 로고    scopus 로고
    • The deep intronic c.903+469 T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
    • Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. The deep intronic c.903+469 T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat. 2010;31(4):437-44. doi: 10.1002/humu.21206. PubMed PMID: 20120036, PubMed Central PMCID: PMC3429857, Epub 2010/02/02.
    • (2010) Hum Mutat , vol.31 , Issue.4 , pp. 437-444
    • Homolova, K.1    Zavadakova, P.2    Doktor, T.K.3    Schroeder, L.D.4    Kozich, V.5    Andresen, B.S.6
  • 73
    • 84892899951 scopus 로고    scopus 로고
    • Exon identity crisis: disease-causing mutations that disrupt the splicing code
    • Sterne-Weiler T, Sanford JR. Exon identity crisis: disease-causing mutations that disrupt the splicing code. Genome Biol. 2014;15(1):201. doi: 10.1186/gb4150. PubMed PMID: 24456648, PubMed Central PMCID: PMC4053859, Epub 2014/01/25.
    • (2014) Genome Biol , vol.15 , Issue.1 , pp. 201
    • Sterne-Weiler, T.1    Sanford, J.R.2
  • 74
    • 84876929370 scopus 로고    scopus 로고
    • HnRNP A1/A2 and SF2/ASF regulate alternative splicing of interferon regulatory factor-3 and affect immunomodulatory functions in human non-small cell lung cancer cells
    • Guo R, Li Y, Ning J, Sun D, Lin L, Liu X. HnRNP A1/A2 and SF2/ASF regulate alternative splicing of interferon regulatory factor-3 and affect immunomodulatory functions in human non-small cell lung cancer cells. PLoS One. 2013;8(4):e62729. doi: 10.1371/journal.pone.0062729. PubMed PMID: 23658645, PubMed Central PMCID: PMC3639176, Epub 2013/05/10.
    • (2013) PLoS One , vol.8 , Issue.4
    • Guo, R.1    Li, Y.2    Ning, J.3    Sun, D.4    Lin, L.5    Liu, X.6
  • 75
    • 0028999992 scopus 로고
    • Identification of positive and negative splicing regulatory elements within the terminal tat-rev exon of human immunodeficiency virus type 1
    • Staffa A, Cochrane A. Identification of positive and negative splicing regulatory elements within the terminal tat-rev exon of human immunodeficiency virus type 1. Mol Cell Biol. 1995;15(8):4597-605. PubMed PMID: 7623851, PubMed Central PMCID: PMC230700, Epub 1995/08/01.
    • (1995) Mol Cell Biol , vol.15 , Issue.8 , pp. 4597-4605
    • Staffa, A.1    Cochrane, A.2
  • 76
    • 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 AR. Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol Cell. 2001;8(6):1351-61. Epub 2002/01/10.
    • (2001) Mol Cell , vol.8 , Issue.6 , pp. 1351-1361
    • Zhu, J.1    Mayeda, A.2    Krainer, A.R.3
  • 77
    • 0026543785 scopus 로고
    • Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2
    • Mayeda A, Krainer AR. Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2. Cell. 1992;68(2):365-75. Epub 1992/01/24.
    • (1992) Cell , vol.68 , Issue.2 , pp. 365-375
    • Mayeda, A.1    Krainer, A.R.2
  • 78
    • 0033846543 scopus 로고    scopus 로고
    • Multiple splicing defects in an intronic false exon
    • Sun H, Chasin LA. Multiple splicing defects in an intronic false exon. Mol Cell Biol. 2000;20(17):6414-25. PubMed PMID: 10938119, PubMed Central PMCID: PMC86117, Epub 2000/08/11.
    • (2000) Mol Cell Biol , vol.20 , Issue.17 , pp. 6414-6425
    • Sun, H.1    Chasin, L.A.2
  • 79
    • 0028061367 scopus 로고
    • Function of conserved domains of hnRNP A1 and other hnRNP A/B proteins
    • Mayeda A, Munroe SH, Caceres JF, Krainer AR. Function of conserved domains of hnRNP A1 and other hnRNP A/B proteins. EMBO J. 1994;13(22):5483-95. PubMed PMID: 7957114, PubMed Central PMCID: PMC395506, Epub 1994/11/15.
    • (1994) EMBO J , vol.13 , Issue.22 , pp. 5483-5495
    • Mayeda, A.1    Munroe, S.H.2    Caceres, J.F.3    Krainer, A.R.4
  • 80
    • 0030952320 scopus 로고    scopus 로고
    • An intron element modulating 5' splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1
    • Chabot B, Blanchette M, Lapierre I, La Branche H. An intron element modulating 5' splice site selection in the hnRNP A1 pre-mRNA interacts with hnRNP A1. Mol Cell Biol. 1997;17(4):1776-86. PubMed PMID: 9121425, PubMed Central PMCID: PMC232024, Epub 1997/04/01.
    • (1997) Mol Cell Biol , vol.17 , Issue.4 , pp. 1776-1786
    • Chabot, B.1    Blanchette, M.2    Lapierre, I.3    Branche, H.4
  • 81
    • 0037119437 scopus 로고    scopus 로고
    • Distinct sets of adjacent heterogeneous nuclear ribonucleoprotein (hnRNP) A1/A2 binding sites control 5' splice site selection in the hnRNP A1 mRNA precursor
    • Hutchison S, LeBel C, Blanchette M, Chabot B. Distinct sets of adjacent heterogeneous nuclear ribonucleoprotein (hnRNP) A1/A2 binding sites control 5' splice site selection in the hnRNP A1 mRNA precursor. J Biol Chem. 2002;277(33):29745-52. doi: 10.1074/jbc.M203633200. Epub 2002/06/13.
    • (2002) J Biol Chem , vol.277 , Issue.33 , pp. 29745-29752
    • Hutchison, S.1    LeBel, C.2    Blanchette, M.3    Chabot, B.4
  • 82
    • 84931058595 scopus 로고    scopus 로고
    • PKM2 promotes glucose metabolism and cell growth in gliomas through a mechanism involving a let-7a/c-Myc/hnRNPA1 feedback loop
    • Luan W, Wang Y, Chen X, Shi Y, Wang J, Zhang J, et al. PKM2 promotes glucose metabolism and cell growth in gliomas through a mechanism involving a let-7a/c-Myc/hnRNPA1 feedback loop. Oncotarget. 2015;6(15):13006-18. doi: 10.18632/oncotarget.3514. Epub 2015/05/08. PubMed PMID: 25948776; PubMed Central PMCID: PMC4536995.
    • (2015) Oncotarget , vol.6 , Issue.15 , pp. 13006-13018
    • Luan, W.1    Wang, Y.2    Chen, X.3    Shi, Y.4    Wang, J.5    Zhang, J.6
  • 83
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. PubMed PMID: 19451168, PubMed Central PMCID: PMC2705234, Epub 2009/05/20.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 84
    • 84890132388 scopus 로고    scopus 로고
    • Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges
    • Lovci MT, Ghanem D, Marr H, Arnold J, Gee S, Parra M, et al. Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. Nat Struct Mol Biol. 2013;20(12):1434-42. doi: 10.1038/nsmb.2699. PubMed PMID: 24213538, PubMed Central PMCID: PMC3918504, Epub 2013/11/12.
    • (2013) Nat Struct Mol Biol , vol.20 , Issue.12 , pp. 1434-1442
    • Lovci, M.T.1    Ghanem, D.2    Marr, H.3    Arnold, J.4    Gee, S.5    Parra, M.6
  • 85
    • 77952567987 scopus 로고    scopus 로고
    • Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities
    • Heinz S, Benner C, Spann N, Bertolino E, Lin YC, Laslo P, et al. Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol Cell. 2010;38(4):576-89. doi: 10.1016/j.molcel.2010.05.004. PubMed PMID: 20513432, PubMed Central PMCID: PMC2898526, Epub 2010/06/02.
    • (2010) Mol Cell , vol.38 , Issue.4 , pp. 576-589
    • Heinz, S.1    Benner, C.2    Spann, N.3    Bertolino, E.4    Lin, Y.C.5    Laslo, P.6
  • 86
    • 84865074382 scopus 로고    scopus 로고
    • RSeQC: quality control of RNA-seq experiments
    • Wang L, Wang S, Li W. RSeQC: quality control of RNA-seq experiments. Bioinformatics. 2012;28(16):2184-5. doi: 10.1093/bioinformatics/bts356. Epub 2012/06/30.
    • (2012) Bioinformatics , vol.28 , Issue.16 , pp. 2184-2185
    • Wang, L.1    Wang, S.2    Li, W.3
  • 87
    • 84899493057 scopus 로고    scopus 로고
    • ngs.plot: Quick mining and visualization of next-generation sequencing data by integrating genomic databases
    • Shen L, Shao N, Liu X, Nestler E. ngs.plot: Quick mining and visualization of next-generation sequencing data by integrating genomic databases. BMC Genomics. 2014;15:284. doi: 10.1186/1471-2164-15-284. PubMed PMID: 24735413, PubMed Central PMCID: PMC4028082, Epub 2014/04/17.
    • (2014) BMC Genomics. , vol.15 , pp. 284
    • Shen, L.1    Shao, N.2    Liu, X.3    Nestler, E.4
  • 89
    • 84875634162 scopus 로고    scopus 로고
    • Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
    • Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14(2):178-92. doi: 10.1093/bib/bbs017. PubMed PMID: 22517427, PubMed Central PMCID: PMC3603213, Epub 2012/04/21.
    • (2013) Brief Bioinform , vol.14 , Issue.2 , pp. 178-192
    • Thorvaldsdottir, H.1    Robinson, J.T.2    Mesirov, J.P.3
  • 90
    • 84984655187 scopus 로고    scopus 로고
    • Analysis and visualization of ChIP-Seq and RNA-Seq sequence alignments using ngs.plot
    • Loh YH, Shen L. Analysis and visualization of ChIP-Seq and RNA-Seq sequence alignments using ngs.plot. Methods Mol Biol. 2016;1415:371-83. doi: 10.1007/978-1-4939-3572-7_18.
    • (2016) Methods Mol Biol , vol.1415 , pp. 371-383
    • Loh, Y.H.1    Shen, L.2
  • 91
    • 84984655186 scopus 로고    scopus 로고
    • ImageJ U.S. National Institutes of Health, Bethesda, Maryland, USA 1997-2015. Accessed 2 Jul
    • Rasband WS. ImageJ U.S. National Institutes of Health, Bethesda, Maryland, USA 1997-2015. http://imagej.nih.gov/ij/. Accessed 2 Jul 2016.
    • (2016)
    • Rasband, W.S.1
  • 92
    • 84871809302 scopus 로고    scopus 로고
    • STAR: ultrafast universal RNA-seq aligner
    • Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29(1):15-21. doi: 10.1093/bioinformatics/bts635. PubMed PMID: 23104886, PubMed Central PMCID: PMC3530905.
    • (2013) Bioinformatics , vol.29 , Issue.1 , pp. 15-21
    • Dobin, A.1    Davis, C.A.2    Schlesinger, F.3    Drenkow, J.4    Zaleski, C.5    Jha, S.6
  • 93
    • 84928987900 scopus 로고    scopus 로고
    • HTSeq-a Python framework to work with high-throughput sequencing data
    • Anders S, Pyl PT, Huber W. HTSeq-a Python framework to work with high-throughput sequencing data. Bioinformatics. 2015;31(2):166-9. doi: 10.1093/bioinformatics/btu638. PubMed PMID: 25260700, PubMed Central PMCID: PMC4287950.
    • (2015) Bioinformatics , vol.31 , Issue.2 , pp. 166-169
    • Anders, S.1    Pyl, P.T.2    Huber, W.3
  • 94
    • 84924629414 scopus 로고    scopus 로고
    • Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
    • Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 2014;15(12):550. doi: 10.1186/PREACCEPT-8897612761307401. Epub 2014/12/18.
    • (2014) Genome Biol , vol.15 , Issue.12 , pp. 550
    • Love, M.I.1    Huber, W.2    Anders, S.3
  • 95
    • 84858068675 scopus 로고    scopus 로고
    • Removing technical variability in RNA-seq data using conditional quantile normalization
    • Hansen KD, Irizarry RA, Wu Z. Removing technical variability in RNA-seq data using conditional quantile normalization. Biostatistics. 2012;13(2):204-16. doi: 10.1093/biostatistics/kxr054. PubMed PMID: 22285995, PubMed Central PMCID: PMC3297825.
    • (2012) Biostatistics , vol.13 , Issue.2 , pp. 204-216
    • Hansen, K.D.1    Irizarry, R.A.2    Wu, Z.3
  • 96
    • 84873810442 scopus 로고    scopus 로고
    • Widespread splicing changes in human brain development and aging
    • Mazin P, Xiong J, Liu X, Yan Z, Zhang X, Li M, et al. Widespread splicing changes in human brain development and aging. Mol Syst Biol. 2013;9:633. doi: 10.1038/msb.2012.67. PubMed PMID: 23340839; PubMed Central PMCID: PMCPMC3564255.
    • (2013) Mol Syst Biol , vol.9 , pp. 633
    • Mazin, P.1    Xiong, J.2    Liu, X.3    Yan, Z.4    Zhang, X.5    Li, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.