메뉴 건너뛰기




Volumn 118, Issue 3, 2016, Pages 454-468

RNA Splicing regulation and dysregulation in the heart

Author keywords

Heart diseases; RNA splicing; RNA binding proteins

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; MESSENGER RNA; MESSENGER RNA PRECURSOR; RIBONUCLEOPROTEIN; RNA BINDING PROTEIN; SERINE ARGININE RICH SPLICING FACTOR; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RNA; UNTRANSLATED RNA; RNA;

EID: 84958559703     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.115.307872     Document Type: Review
Times cited : (89)

References (131)
  • 1
    • 0017688583 scopus 로고
    • An amazing sequence arrangement at the 5' ends of adenovirus 2 messenger RNA
    • Chow LT, Gelinas RE, Broker TR, Roberts RJ. An amazing sequence arrangement at the 5' ends of adenovirus 2 messenger RNA. Cell. 1977;12:1-8.
    • (1977) Cell , vol.12 , pp. 1-8
    • Chow, L.T.1    Gelinas, R.E.2    Broker, T.R.3    Roberts, R.J.4
  • 2
    • 0028307171 scopus 로고
    • Split genes and RNA splicing
    • Sharp PA. Split genes and RNA splicing. Cell. 1994;77:805-815.
    • (1994) Cell , vol.77 , pp. 805-815
    • Sharp, P.A.1
  • 3
    • 0035393343 scopus 로고    scopus 로고
    • Genome-wide detection of alternative splicing in expressed sequences of human genes
    • Modrek B, Resch A, Grasso C, Lee C. Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res. 2001;29:2850-2859.
    • (2001) Nucleic Acids Res , vol.29 , pp. 2850-2859
    • Modrek, B.1    Resch, A.2    Grasso, C.3    Lee, C.4
  • 5
    • 24944494948 scopus 로고    scopus 로고
    • Evidence that public database records for many cancer-associated genes reflect a splice form found in tumors and lack normal splice forms
    • Roy M, Xu Q, Lee C. Evidence that public database records for many cancer-associated genes reflect a splice form found in tumors and lack normal splice forms. Nucleic Acids Res. 2005;33:5026-5033doi:10.1093/nar/gki792.
    • (2005) Nucleic Acids Res , vol.33 , pp. 5026-5033
    • Roy, M.1    Xu, Q.2    Lee, C.3
  • 8
    • 84871410405 scopus 로고    scopus 로고
    • The evolutionary landscape of alternative splicing in vertebrate species
    • Barbosa-Morais NL, Irimia M, Pan Q, et al. The evolutionary landscape of alternative splicing in vertebrate species. Science. 2012;338:1587-1593. doi:10.1126/science.1230612.
    • (2012) Science , vol.338 , pp. 1587-1593
    • Barbosa-Morais, N.L.1    Irimia, M.2    Pan, Q.3
  • 9
    • 84871436996 scopus 로고    scopus 로고
    • Evolutionary dynamics of gene and isoform regulation in Mammalian tissues
    • Merkin J, Russell C, Chen P, Burge CB. Evolutionary dynamics of gene and isoform regulation in Mammalian tissues. Science. 2012;338:1593- 1599. doi:10.1126/science.1228186.
    • (2012) Science , vol.338 , pp. 1593-1599
    • Merkin, J.1    Russell, C.2    Chen, P.3    Burge, C.B.4
  • 10
    • 60349104299 scopus 로고    scopus 로고
    • The spliceosome: Design principles of a dynamic RNP machine
    • Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell. 2009;136:701-718. doi:10.1016/j.cell.2009.02.009.
    • (2009) Cell , vol.136 , pp. 701-718
    • Wahl, M.C.1    Will, C.L.2    Lührmann, R.3
  • 11
    • 0042671357 scopus 로고    scopus 로고
    • Pre-mRNA splicing: Awash in a sea of proteins
    • Jurica MS, Moore MJ. Pre-mRNA splicing: Awash in a sea of proteins. Mol Cell. 2003;12:5-14.
    • (2003) Mol Cell , vol.12 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 12
    • 0029863992 scopus 로고    scopus 로고
    • A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro
    • Tarn WY, Steitz JA. A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro. Cell. 1996;84:801-811.
    • (1996) Cell , vol.84 , pp. 801-811
    • Tarn, W.Y.1    Steitz, J.A.2
  • 14
    • 36049047997 scopus 로고    scopus 로고
    • Splicing segregation: The minor spliceosome acts outside the nucleus and controls cell proliferation
    • König H, Matter N, Bader R, Thiele W, Müller F. Splicing segregation: the minor spliceosome acts outside the nucleus and controls cell proliferation. Cell. 2007;131:718-729doi:10.1016/j.cell.2007.09.043.
    • (2007) Cell , vol.131 , pp. 718-729
    • König, H.1    Matter, N.2    Bader, R.3    Thiele, W.4    Müller, F.5
  • 15
    • 0037099491 scopus 로고    scopus 로고
    • The splicing of U12-type introns can be a rate-limiting step in gene expression
    • Patel AA, McCarthy M, Steitz JA. The splicing of U12-type introns can be a rate-limiting step in gene expression. EMBO J. 2002;21:3804-3815. doi:10.1093/emboj/cdf297.
    • (2002) EMBO J , vol.21 , pp. 3804-3815
    • Patel, A.A.1    McCarthy, M.2    Steitz, J.A.3
  • 16
    • 0345169036 scopus 로고    scopus 로고
    • Splicing double: Insights from the second spliceosome
    • Patel AA, Steitz JA. Splicing double: insights from the second spliceosome. Nat Rev Mol Cell Biol. 2003;4:960-970. doi:10.1038/nrm1259.
    • (2003) Nat Rev Mol Cell Biol , vol.4 , pp. 960-970
    • Patel, A.A.1    Steitz, J.A.2
  • 17
    • 84881083550 scopus 로고    scopus 로고
    • Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA
    • Younis I, Dittmar K, Wang W, Foley SW, Berg MG, Hu KY, Wei Z, Wan L, Dreyfuss G. Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA. Elife. 2013;2:e00780. doi:10.7554/eLife.00780.
    • (2013) Elife , vol.2 , pp. e00780
    • Younis, I.1    Dittmar, K.2    Wang, W.3    Foley, S.W.4    Berg, M.G.5    Hu, K.Y.6    Wei, Z.7    Wan, L.8    Dreyfuss, G.9
  • 18
    • 0029763477 scopus 로고    scopus 로고
    • Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns
    • Tarn WY, Steitz JA. Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns. Science. 1996;273:1824-1832.
    • (1996) Science , vol.273 , pp. 1824-1832
    • Tarn, W.Y.1    Steitz, J.A.2
  • 19
    • 79953824569 scopus 로고    scopus 로고
    • Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
    • He H, Liyanarachchi S, Akagi K, et al. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011;332:238-240. doi:10.1126/science.1200587.
    • (2011) Science , vol.332 , pp. 238-240
    • He, H.1    Liyanarachchi, S.2    Akagi, K.3
  • 20
    • 38049061206 scopus 로고    scopus 로고
    • Alternative splicing: Current perspectives
    • Kim E, Goren A, Ast G. Alternative splicing: current perspectives. Bioessays. 2008;30:38-47. doi:10.1002/bies.20692.
    • (2008) Bioessays , vol.30 , pp. 38-47
    • Kim, E.1    Goren, A.2    Ast, G.3
  • 21
    • 0037422575 scopus 로고    scopus 로고
    • Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
    • Lewis BP, Green RE, Brenner SE. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A. 2003;100:189-192. doi:10.1073/pnas.0136770100.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 189-192
    • Lewis, B.P.1    Green, R.E.2    Brenner, S.E.3
  • 23
    • 84873405541 scopus 로고    scopus 로고
    • Analysis of alternative cleavage and polyadenylation by 3' region extraction and deep sequencing
    • Hoque M, Ji Z, Zheng D, Luo W, Li W, You B, Park JY, Yehia G, Tian B. Analysis of alternative cleavage and polyadenylation by 3' region extraction and deep sequencing. Nat Methods. 2013;10:133-139. doi:10.1038/nmeth.2288.
    • (2013) Nat Methods , vol.10 , pp. 133-139
    • Hoque, M.1    Ji, Z.2    Zheng, D.3    Luo, W.4    Li, W.5    You, B.6    Park, J.Y.7    Yehia, G.8    Tian, B.9
  • 24
    • 68749113985 scopus 로고    scopus 로고
    • Widespread shortening of 3'UTRs by alternative cleavage and polyadenylation activates oncogenes in cancer cells
    • Mayr C, Bartel DP. Widespread shortening of 3'UTRs by alternative cleavage and polyadenylation activates oncogenes in cancer cells. Cell. 2009;138:673-684. doi:10.1016/j.cell.2009.06.016.
    • (2009) Cell , vol.138 , pp. 673-684
    • Mayr, C.1    Bartel, D.P.2
  • 25
    • 84949790117 scopus 로고    scopus 로고
    • Alternative polyadenylation coupled to transcription initiation: Insights from ELAV-mediated 3' UTR extension
    • Hilgers V. Alternative polyadenylation coupled to transcription initiation: Insights from ELAV-mediated 3' UTR extension. RNA Biol. 2015:0.
    • (2015) RNA Biol
    • Hilgers, V.1
  • 26
    • 0035877746 scopus 로고    scopus 로고
    • Promoter choice influences alternative splicing and determines the balance of isoforms expressed from the mouse bcl-X gene
    • Pecci A, Viegas LR, Baranao JL, Beato M. Promoter choice influences alternative splicing and determines the balance of isoforms expressed from the mouse bcl-X gene. J Biol Chem. 2001;276:21062-21069. doi:10.1074/jbc.M008665200.
    • (2001) J Biol Chem , vol.276 , pp. 21062-21069
    • Pecci, A.1    Viegas, L.R.2    Baranao, J.L.3    Beato, M.4
  • 27
    • 80052978224 scopus 로고    scopus 로고
    • Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses
    • Cabili MN, Trapnell C, Goff L, Koziol M, Tazon-Vega B, Regev A, Rinn JL. Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses. Genes Dev. 2011;25:1915- 1927. doi:10.1101/gad.17446611.
    • (2011) Genes Dev , vol.25 , pp. 1915-1927
    • Cabili, M.N.1    Trapnell, C.2    Goff, L.3    Koziol, M.4    Tazon-Vega, B.5    Regev, A.6    Rinn, J.L.7
  • 28
    • 84948844822 scopus 로고    scopus 로고
    • Splicing noncoding RNAs from the inside out
    • Yang L. Splicing noncoding RNAs from the inside out. Wiley Interdiscip Rev RNA. 2015;6:651-660. doi:10.1002/wrna.1307.
    • (2015) Wiley Interdiscip Rev RNA , vol.6 , pp. 651-660
    • Yang, L.1
  • 29
    • 84910640414 scopus 로고    scopus 로고
    • Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genes
    • Lykke-Andersen S, Chen Y, Ardal BR, Lilje B, Waage J, Sandelin A, Jensen TH. Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genes. Genes Dev. 2014;28:2498- 2517. doi:10.1101/gad.246538.114.
    • (2014) Genes Dev , vol.28 , pp. 2498-2517
    • Lykke-Andersen, S.1    Chen, Y.2    Ardal, B.R.3    Lilje, B.4    Waage, J.5    Sandelin, A.6    Jensen, T.H.7
  • 33
    • 84922277120 scopus 로고    scopus 로고
    • A census of human RNA-binding proteins
    • Gerstberger S, Hafner M, Tuschl T. A census of human RNA-binding proteins. Nat Rev Genet. 2014;15:829-845. doi:10.1038/nrg3813.
    • (2014) Nat Rev Genet , vol.15 , pp. 829-845
    • Gerstberger, S.1    Hafner, M.2    Tuschl, T.3
  • 34
    • 58249093940 scopus 로고    scopus 로고
    • The SR protein family of splicing factors: Master regulators of gene expression
    • Long JC, Caceres JF. The SR protein family of splicing factors: master regulators of gene expression. Biochem J. 2009;417:15-27. doi:10.1042/BJ20081501.
    • (2009) Biochem J , vol.417 , pp. 15-27
    • Long, J.C.1    Caceres, J.F.2
  • 35
    • 77955110561 scopus 로고    scopus 로고
    • Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles
    • Chaudhury A, Chander P, Howe PH. Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles. RNA. 2010;16:1449-1462. doi:10.1261/rna.2254110.
    • (2010) RNA , vol.16 , pp. 1449-1462
    • Chaudhury, A.1    Chander, P.2    Howe, P.H.3
  • 36
    • 84876512920 scopus 로고    scopus 로고
    • Quaking and PTB control overlapping splicing regulatory networks during muscle cell differentiation
    • Hall MP, Nagel RJ, Fagg WS, Shiue L, Cline MS, Perriman RJ, Donohue JP, Ares M Jr. Quaking and PTB control overlapping splicing regulatory networks during muscle cell differentiation. RNA. 2013;19:627-638. doi:10.1261/rna.038422.113.
    • (2013) RNA , vol.19 , pp. 627-638
    • Hall, M.P.1    Nagel, R.J.2    Fagg, W.S.3    Shiue, L.4    Cline, M.S.5    Perriman, R.J.6    Donohue, J.P.7    Ares, M.8
  • 37
  • 38
    • 33746796393 scopus 로고    scopus 로고
    • Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
    • Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA, Swanson MS. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A. 2006;103:11748-11753. doi:10.1073/pnas.0604970103.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 11748-11753
    • Kanadia, R.N.1    Shin, J.2    Yuan, Y.3    Beattie, S.G.4    Wheeler, T.M.5    Thornton, C.A.6    Swanson, M.S.7
  • 39
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • Graveley BR. Sorting out the complexity of SR protein functions. RNA. 2000;6:1197-1211.
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 42
    • 84865777822 scopus 로고    scopus 로고
    • Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs
    • Tilgner H, Knowles DG, Johnson R, Davis CA, Chakrabortty S, Djebali S, Curado J, Snyder M, Gingeras TR, Guigó R. Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs. Genome Res. 2012;22:1616-1625. doi:10.1101/gr.134445.111.
    • (2012) Genome Res , vol.22 , pp. 1616-1625
    • Tilgner, H.1    Knowles, D.G.2    Johnson, R.3    Davis, C.A.4    Chakrabortty, S.5    Djebali, S.6    Curado, J.7    Snyder, M.8    Gingeras, T.R.9    Guigó, R.10
  • 43
    • 33750596100 scopus 로고    scopus 로고
    • RNA polymerase II C-terminal domain mediates regulation of alternative splicing by SRp20
    • de la Mata M, Kornblihtt AR. RNA polymerase II C-terminal domain mediates regulation of alternative splicing by SRp20. Nat Struct Mol Biol. 2006;13(11):973-980.
    • (2006) Nat Struct Mol Biol , vol.13 , Issue.11 , pp. 973-980
    • De La Mata, M.1    Kornblihtt, A.R.2
  • 45
    • 0346732307 scopus 로고    scopus 로고
    • Influence of polymerase II processivity on alternative splicing depends on splice site strength
    • Nogués G, Muñoz MJ, Kornblihtt AR. Influence of polymerase II processivity on alternative splicing depends on splice site strength. J Biol Chem. 2003;278:52166-52171. doi:10.1074/jbc.M309156200.
    • (2003) J Biol Chem , vol.278 , pp. 52166-52171
    • Nogués, G.1    Muñoz, M.J.2    Kornblihtt, A.R.3
  • 47
    • 77954659099 scopus 로고    scopus 로고
    • Relationship between nucleosome positioning and DNA methylation
    • Chodavarapu RK, Feng S, Bernatavichute YV, et al. Relationship between nucleosome positioning and DNA methylation. Nature. 2010;466:388- 392. doi:10.1038/nature09147.
    • (2010) Nature , vol.466 , pp. 388-392
    • Chodavarapu, R.K.1    Feng, S.2    Bernatavichute, Y.V.3
  • 51
    • 68149120313 scopus 로고    scopus 로고
    • Nucleosomal fluctuations govern the transcription dynamics of RNA polymerase II
    • Hodges C, Bintu L, Lubkowska L, Kashlev M, Bustamante C. Nucleosomal fluctuations govern the transcription dynamics of RNA polymerase II. Science. 2009;325:626-628. doi:10.1126/science.1172926.
    • (2009) Science , vol.325 , pp. 626-628
    • Hodges, C.1    Bintu, L.2    Lubkowska, L.3    Kashlev, M.4    Bustamante, C.5
  • 52
    • 78650961149 scopus 로고    scopus 로고
    • Epigenetics in alternative pre-mRNA splicing
    • Luco RF, Allo M, Schor IE, Kornblihtt AR, Misteli T. Epigenetics in alternative pre-mRNA splicing. Cell. 2011;144:16-26. doi:10.1016/j.cell.2010.11.056.
    • (2011) Cell , vol.144 , pp. 16-26
    • Luco, R.F.1    Allo, M.2    Schor, I.E.3    Kornblihtt, A.R.4    Misteli, T.5
  • 53
    • 84893210532 scopus 로고    scopus 로고
    • Regulation of alternative splicing by local histone modifications: Potential roles for RNA-guided mechanisms
    • Zhou HL, Luo G, Wise JA, Lou H. Regulation of alternative splicing by local histone modifications: potential roles for RNA-guided mechanisms. Nucleic Acids Res. 2014;42:701-713doi:10.1093/nar/gkt875.
    • (2014) Nucleic Acids Res , vol.42 , pp. 701-713
    • Zhou, H.L.1    Luo, G.2    Wise, J.A.3    Lou, H.4
  • 55
    • 84924072927 scopus 로고    scopus 로고
    • N(6)-methyladenosinedependent RNA structural switches regulate RNA-protein interactions
    • Liu N, Dai Q, Zheng G, He C, Parisien M, Pan T. N(6)-methyladenosinedependent RNA structural switches regulate RNA-protein interactions. Nature. 2015;518:560-564. doi:10.1038/nature14234.
    • (2015) Nature , vol.518 , pp. 560-564
    • Liu, N.1    Dai, Q.2    Zheng, G.3    He, C.4    Parisien, M.5    Pan, T.6
  • 57
  • 59
    • 19944427655 scopus 로고    scopus 로고
    • ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle
    • Xu X, Yang D, Ding JH, et al. ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle. Cell. 2005;120:59-72. doi:10.1016/j.cell.2004.11.036.
    • (2005) Cell , vol.120 , pp. 59-72
    • Xu, X.1    Yang, D.2    Ding, J.H.3
  • 62
    • 34548758543 scopus 로고    scopus 로고
    • Splicing in disease: Disruption of the splicing code and the decoding machinery
    • Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007;8:749-761. doi:10.1038/nrg2164.
    • (2007) Nat Rev Genet , vol.8 , pp. 749-761
    • Wang, G.S.1    Cooper, T.A.2
  • 64
    • 84880152075 scopus 로고    scopus 로고
    • Alternative splicing and retinal degeneration
    • Liu MM, Zack DJ. Alternative splicing and retinal degeneration. Clin Genet. 2013;84:142-149. doi:10.1111/cge.12181.
    • (2013) Clin Genet , vol.84 , pp. 142-149
    • Liu, M.M.1    Zack, D.J.2
  • 65
    • 30844442607 scopus 로고    scopus 로고
    • The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
    • Kishore S, Stamm S. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science. 2006;311:230-232. doi:10.1126/science.1118265.
    • (2006) Science , vol.311 , pp. 230-232
    • Kishore, S.1    Stamm, S.2
  • 67
    • 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, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992;90:41-54.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 68
    • 15544379277 scopus 로고    scopus 로고
    • Are splicing mutations the most frequent cause of hereditary disease?
    • López-Bigas N, Audit B, Ouzounis C, Parra G, Guigó R. Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett. 2005;579:1900-1903. doi:10.1016/j.febslet.2005.02.047.
    • (2005) FEBS Lett , vol.579 , pp. 1900-1903
    • López-Bigas, N.1    Audit, B.2    Ouzounis, C.3    Parra, G.4    Guigó, R.5
  • 69
    • 1942467065 scopus 로고    scopus 로고
    • Genomic variants in exons and introns: Identifying the splicing spoilers
    • Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 2004;5:389-396. doi:10.1038/nrg1327.
    • (2004) Nat Rev Genet , vol.5 , pp. 389-396
    • Pagani, F.1    Baralle, F.E.2
  • 70
    • 84880955708 scopus 로고    scopus 로고
    • Sequencing of mRNA identifies re-expression of fetal splice variants in cardiac hypertrophy
    • Ames EG, Lawson MJ, Mackey AJ, Holmes JW. Sequencing of mRNA identifies re-expression of fetal splice variants in cardiac hypertrophy. J Mol Cell Cardiol. 2013;62:99-107doi:10.1016/j.yjmcc.2013.05.004.
    • (2013) J Mol Cell Cardiol , vol.62 , pp. 99-107
    • Ames, E.G.1    Lawson, M.J.2    Mackey, A.J.3    Holmes, J.W.4
  • 72
    • 84859879034 scopus 로고    scopus 로고
    • Deep RNA sequencing reveals novel cardiac transcriptomic signatures for physiological and pathological hypertrophy
    • Song HK, Hong SE, Kim T, Kim do H. Deep RNA sequencing reveals novel cardiac transcriptomic signatures for physiological and pathological hypertrophy. PLoS One. 2012;7:e35552. doi:10.1371/journal.pone.0035552.
    • (2012) PLoS One , vol.7 , pp. e35552
    • Song, H.K.1    Hong, S.E.2    Kim, T.3    Kim, D.H.4
  • 73
    • 84856083581 scopus 로고    scopus 로고
    • Analysis of transcriptome complexity through RNA sequencing in normal and failing murine hearts
    • Lee JH, Gao C, Peng G, Greer C, Ren S, Wang Y, Xiao X. Analysis of transcriptome complexity through RNA sequencing in normal and failing murine hearts. Circ Res. 2011;109:1332-1341. doi:10.1161/CIRCRESAHA.111.249433.
    • (2011) Circ Res , vol.109 , pp. 1332-1341
    • Lee, J.H.1    Gao, C.2    Peng, G.3    Greer, C.4    Ren, S.5    Wang, Y.6    Xiao, X.7
  • 78
    • 84862777447 scopus 로고    scopus 로고
    • Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy
    • Refaat MM, Lubitz SA, Makino S, et al. Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm. 2012;9:390-396. doi:10.1016/j.hrthm.2011.10.016.
    • (2012) Heart Rhythm , vol.9 , pp. 390-396
    • Refaat, M.M.1    Lubitz, S.A.2    Makino, S.3
  • 79
    • 0033607012 scopus 로고    scopus 로고
    • Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20
    • Jumaa H, Wei G, Nielsen PJ. Blastocyst formation is blocked in mouse embryos lacking the splicing factor SRp20. Curr Biol. 1999;9:899-902.
    • (1999) Curr Biol , vol.9 , pp. 899-902
    • Jumaa, H.1    Wei, G.2    Nielsen, P.J.3
  • 80
    • 84860667942 scopus 로고    scopus 로고
    • RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
    • Guo W, Schafer S, Greaser ML, et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med. 2012;18:766-773. doi:10.1038/nm.2693.
    • (2012) Nat Med , vol.18 , pp. 766-773
    • Guo, W.1    Schafer, S.2    Greaser, M.L.3
  • 81
    • 84876353525 scopus 로고    scopus 로고
    • Rbm20 regulates titin alternative splicing as a splicing repressor
    • Li S, Guo W, Dewey CN, Greaser ML. Rbm20 regulates titin alternative splicing as a splicing repressor. Nucleic Acids Res. 2013;41:2659-2672. doi:10.1093/nar/gks1362.
    • (2013) Nucleic Acids Res , vol.41 , pp. 2659-2672
    • Li, S.1    Guo, W.2    Dewey, C.N.3    Greaser, M.L.4
  • 82
    • 84905460023 scopus 로고    scopus 로고
    • RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing
    • Maatz H, Jens M, Liss M, et al. RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. J Clin Invest. 2014;124:3419-3430. doi:10.1172/JCI74523.
    • (2014) J Clin Invest , vol.124 , pp. 3419-3430
    • Maatz, H.1    Jens, M.2    Liss, M.3
  • 87
    • 77950658740 scopus 로고    scopus 로고
    • Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1
    • Koshelev M, Sarma S, Price RE, Wehrens XH, Cooper TA. Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum Mol Genet. 2010;19:1066- 1075. doi:10.1093/hmg/ddp570.
    • (2010) Hum Mol Genet , vol.19 , pp. 1066-1075
    • Koshelev, M.1    Sarma, S.2    Price, R.E.3    Wehrens, X.H.4    Cooper, T.A.5
  • 89
    • 84933056653 scopus 로고    scopus 로고
    • HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease
    • Mirtschink P, Krishnan J, Grimm F, et al. HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. Nature. 2015;522:444- 449. doi:10.1038/nature14508.
    • (2015) Nature , vol.522 , pp. 444-449
    • Mirtschink, P.1    Krishnan, J.2    Grimm, F.3
  • 90
    • 70350025509 scopus 로고    scopus 로고
    • Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35
    • Fan C, Chen Q, Wang QK. Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem. 2009;284:25653-25663. doi:10.1074/jbc.M109.041368.
    • (2009) J Biol Chem , vol.284 , pp. 25653-25663
    • Fan, C.1    Chen, Q.2    Wang, Q.K.3
  • 92
    • 70350014975 scopus 로고    scopus 로고
    • Polypyrimidine tract binding proteins (PTB) regulate the expression of apoptotic genes and susceptibility to caspase-dependent apoptosis in differentiating cardiomyocytes
    • Zhang J, Bahi N, Llovera M, Comella JX, Sanchis D. Polypyrimidine tract binding proteins (PTB) regulate the expression of apoptotic genes and susceptibility to caspase-dependent apoptosis in differentiating cardiomyocytes. Cell Death Differ. 2009;16:1460-1468. doi:10.1038/cdd.2009.87.
    • (2009) Cell Death Differ , vol.16 , pp. 1460-1468
    • Zhang, J.1    Bahi, N.2    Llovera, M.3    Comella, J.X.4    Sanchis, D.5
  • 93
    • 70350437430 scopus 로고    scopus 로고
    • Polypyrimidine tract-binding protein is essential for early mouse development and embryonic stem cell proliferation
    • Shibayama M, Ohno S, Osaka T, Sakamoto R, Tokunaga A, Nakatake Y, Sato M, Yoshida N. Polypyrimidine tract-binding protein is essential for early mouse development and embryonic stem cell proliferation. FEBS J. 2009;276:6658-6668. doi:10.1111/j.1742-4658.2009.07380.x.
    • (2009) FEBS J , vol.276 , pp. 6658-6668
    • Shibayama, M.1    Ohno, S.2    Osaka, T.3    Sakamoto, R.4    Tokunaga, A.5    Nakatake, Y.6    Sato, M.7    Yoshida, N.8
  • 94
    • 80052604415 scopus 로고    scopus 로고
    • Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure
    • Gao G, Xie A, Huang SC, et al. Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure. Circulation. 2011;124:1124-1131. doi:10.1161/CIRCULATIONAHA.111.044495.
    • (2011) Circulation , vol.124 , pp. 1124-1131
    • Gao, G.1    Xie, A.2    Huang, S.C.3
  • 95
    • 84901480223 scopus 로고    scopus 로고
    • Experimentally increasing titin compliance in a novel mouse model attenuates the Frank-Starling mechanism but has a beneficial effect on diastole
    • Methawasin M, Hutchinson KR, Lee EJ, Smith JE III, Saripalli C, Hidalgo CG, Ottenheijm CA, Granzier H. Experimentally increasing titin compliance in a novel mouse model attenuates the Frank-Starling mechanism but has a beneficial effect on diastole. Circulation. 2014;129:1924-1936. doi:10.1161/CIRCULATIONAHA.113.005610.
    • (2014) Circulation , vol.129 , pp. 1924-1936
    • Methawasin, M.1    Hutchinson, K.R.2    Lee, E.J.3    Smith, J.E.4    Saripalli, C.5    Hidalgo, C.G.6    Ottenheijm, C.A.7    Granzier, H.8
  • 96
    • 84942782007 scopus 로고    scopus 로고
    • Maintaining ancient organelles: Mitochondrial biogenesis and maturation
    • Vega RB, Horton JL, Kelly DP. Maintaining ancient organelles: mitochondrial biogenesis and maturation. Circ Res. 2015;116:1820-1834. doi:10.1161/CIRCRESAHA.116.305420.
    • (2015) Circ Res , vol.116 , pp. 1820-1834
    • Vega, R.B.1    Horton, J.L.2    Kelly, D.P.3
  • 97
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell. 1994;77:701-712.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6    Seidman, J.G.7    Seidman, C.E.8
  • 99
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366:619-628. doi:10.1056/NEJMoa1110186.
    • (2012) N Engl J Med , vol.366 , pp. 619-628
    • Herman, D.S.1    Lam, L.2    Taylor, M.R.3
  • 102
    • 84938700452 scopus 로고    scopus 로고
    • Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Groeneweg JA, Ummels A, Mulder M, et al. Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm. 2014;11:2010-2017doi:10.1016/j.hrthm.2014.07.041.
    • (2014) Heart Rhythm , vol.11 , pp. 2010-2017
    • Groeneweg, J.A.1    Ummels, A.2    Mulder, M.3
  • 105
    • 78651278935 scopus 로고    scopus 로고
    • Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome
    • Stump MR, Gong Q, Zhou Z. Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome. Am J Physiol Heart Circ Physiol. 2011;300:H312-H318. doi:10.1152/ajpheart.00818.2010.
    • (2011) Am J Physiol Heart Circ Physiol , vol.300 , pp. H312-H318
    • Stump, M.R.1    Gong, Q.2    Zhou, Z.3
  • 108
    • 84923920296 scopus 로고    scopus 로고
    • C.620C>T mutation in GATA4 is associated with congenital heart disease in South India
    • Mattapally S, Nizamuddin S, Murthy KS, Thangaraj K, Banerjee SK. c.620C>T mutation in GATA4 is associated with congenital heart disease in South India. BMC Med Genet. 2015;16:7. doi:10.1186/s12881-015-0152-7.
    • (2015) BMC Med Genet , vol.16 , pp. 7
    • Mattapally, S.1    Nizamuddin, S.2    Murthy, K.S.3    Thangaraj, K.4    Banerjee, S.K.5
  • 109
    • 84898763352 scopus 로고    scopus 로고
    • UK10K Consortium. Rare variants in NR2F2 cause congenital heart defects in humans
    • Al Turki S, Manickaraj AK, Mercer CL, et al; UK10K Consortium. Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet. 2014;94:574-585. doi:10.1016/j.ajhg.2014.03.007.
    • (2014) Am J Hum Genet , vol.94 , pp. 574-585
    • Al, T.S.1    Manickaraj, A.K.2    Mercer, C.L.3
  • 111
    • 0028794822 scopus 로고
    • Normal variation at the myotonic dystrophy locus in global human populations
    • Zerylnick C, Torroni A, Sherman SL, Warren ST. Normal variation at the myotonic dystrophy locus in global human populations. Am J Hum Genet. 1995;56:123-130.
    • (1995) Am J Hum Genet , vol.56 , pp. 123-130
    • Zerylnick, C.1    Torroni, A.2    Sherman, S.L.3    Warren, S.T.4
  • 112
    • 0036537492 scopus 로고    scopus 로고
    • Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    • Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet. 2002;11:805-814.
    • (2002) Hum Mol Genet , vol.11 , pp. 805-814
    • Fardaei, M.1    Rogers, M.T.2    Thorpe, H.M.3    Larkin, K.4    Hamshere, M.G.5    Harper, P.S.6    Brook, J.D.7
  • 113
    • 34948834723 scopus 로고    scopus 로고
    • Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
    • Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell. 2007;28:68-78. doi:10.1016/j.molcel.2007.07.027.
    • (2007) Mol Cell , vol.28 , pp. 68-78
    • Kuyumcu-Martinez, N.M.1    Wang, G.S.2    Cooper, T.A.3
  • 114
    • 77950513681 scopus 로고    scopus 로고
    • MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development
    • Kalsotra A, Wang K, Li PF, Cooper TA. MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development. Genes Dev. 2010;24:653-658. doi:10.1101/gad.1894310.
    • (2010) Genes Dev , vol.24 , pp. 653-658
    • Kalsotra, A.1    Wang, K.2    Li, P.F.3    Cooper, T.A.4
  • 115
    • 84895907629 scopus 로고    scopus 로고
    • The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression
    • Kalsotra A, Singh RK, Gurha P, Ward AJ, Creighton CJ, Cooper TA. The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression. Cell Rep. 2014;6:336-345. doi:10.1016/j.celrep.2013.12.025.
    • (2014) Cell Rep , vol.6 , pp. 336-345
    • Kalsotra, A.1    Singh, R.K.2    Gurha, P.3    Ward, A.J.4    Creighton, C.J.5    Cooper, T.A.6
  • 121
    • 79955158683 scopus 로고    scopus 로고
    • Systemic administration of PRO051 in Duchenne's muscular dystrophy
    • Goemans NM, Tulinius M, van den Akker JT, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med. 2011;364:1513-1522. doi:10.1056/NEJMoa1011367.
    • (2011) N Engl J Med , vol.364 , pp. 1513-1522
    • Goemans, N.M.1    Tulinius, M.2    Van Den Akker, J.T.3
  • 122
    • 80053902729 scopus 로고    scopus 로고
    • Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
    • Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. 2011;478:123-126. doi:10.1038/nature10485.
    • (2011) Nature , vol.478 , pp. 123-126
    • Hua, Y.1    Sahashi, K.2    Rigo, F.3    Hung, G.4    Horev, G.5    Bennett, C.F.6    Krainer, A.R.7
  • 123
    • 17644373758 scopus 로고    scopus 로고
    • Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome
    • Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005;11:440-445. doi:10.1038/nm1204.
    • (2005) Nat Med , vol.11 , pp. 440-445
    • Scaffidi, P.1    Misteli, T.2
  • 125
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol. 2003;10:120-125. doi:10.1038/nsb887.
    • (2003) Nat Struct Biol , vol.10 , pp. 120-125
    • Cartegni, L.1    Krainer, A.R.2
  • 126
    • 0037388256 scopus 로고    scopus 로고
    • Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
    • Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A. 2003;100:4114-4119. doi:10.1073/pnas.0633863100.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 4114-4119
    • Skordis, L.A.1    Dunckley, M.G.2    Yue, B.3    Eperon, I.C.4    Muntoni, F.5
  • 129
    • 84897439827 scopus 로고    scopus 로고
    • TBX3 regulates splicing in vivo: A novel molecular mechanism for Ulnar-mammary syndrome
    • Kumar PP, Franklin S, Emechebe U, Hu H, Moore B, Lehman C, Yandell M, Moon AM. TBX3 regulates splicing in vivo: A novel molecular mechanism for Ulnar-mammary syndrome. PLoS Genet. 2014;10:e1004247. doi:10.1371/journal.pgen.1004247.
    • (2014) PLoS Genet , vol.10 , pp. e1004247
    • Kumar, P.P.1    Franklin, S.2    Emechebe, U.3    Hu, H.4    Moore, B.5    Lehman, C.6    Yandell, M.7    Moon, A.M.8
  • 130
    • 84908284686 scopus 로고    scopus 로고
    • Building robust transcriptomes with master splicing factors
    • Jangi M, Sharp PA. Building robust transcriptomes with master splicing factors. Cell. 2014;159:487-498. doi:10.1016/j.cell.2014.09.054.
    • (2014) Cell , vol.159 , pp. 487-498
    • Jangi, M.1    Sharp, P.A.2
  • 131
    • 84925876303 scopus 로고    scopus 로고
    • P38 MAPK in cardioprotection - are we there yet?
    • Martin ED, Bassi R, Marber MS. p38 MAPK in cardioprotection - are we there yet? Br J Pharmacol. 2015;172:2101-2113. doi:10.1111/bph.12901.
    • (2015) Br J Pharmacol , vol.172 , pp. 2101-2113
    • Martin, E.D.1    Bassi, R.2    Marber, M.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.