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Volumn 6, Issue 2, 2009, Pages 219-220

Intronic variants and splicing errors in cardiovascular diseases

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; MESSENGER RNA; SCAFFOLD PROTEIN;

EID: 58849136347     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2008.12.006     Document Type: Editorial
Times cited : (5)

References (11)
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    • Alpha-1-syntrophin mutation and the long QT syndrome: a disease of sodium channel disruption
    • Wu G., Ai T., Kim J.J., et al. Alpha-1-syntrophin mutation and the long QT syndrome: a disease of sodium channel disruption. Circ Arrhythm Electrophysiol 1 (2008) 193-201
    • (2008) Circ Arrhythm Electrophysiol , vol.1 , pp. 193-201
    • Wu, G.1    Ai, T.2    Kim, J.J.3
  • 2
    • 48249148221 scopus 로고    scopus 로고
    • Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    • Ueda K., Valdivia C., Medeiros-Domingo A., et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A 105 (2008) 9355-9360
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 9355-9360
    • Ueda, K.1    Valdivia, C.2    Medeiros-Domingo, A.3
  • 3
    • 4444273245 scopus 로고    scopus 로고
    • An intronic mutation causes long QT syndrome
    • Zhang L., Vincent G.M., Baralle M., et al. An intronic mutation causes long QT syndrome. J Am Coll Cardiol 44 (2004) 1283-1291
    • (2004) J Am Coll Cardiol , vol.44 , pp. 1283-1291
    • Zhang, L.1    Vincent, G.M.2    Baralle, M.3
  • 4
    • 22844446288 scopus 로고    scopus 로고
    • A novel splice mutation of HERG in a Chinese family with long QT syndrome
    • Shang Y.P., Xie X.D., Wang X.X., et al. A novel splice mutation of HERG in a Chinese family with long QT syndrome. J Zhejiang Univ Sci B 6 (2005) 626-630
    • (2005) J Zhejiang Univ Sci B , vol.6 , pp. 626-630
    • Shang, Y.P.1    Xie, X.D.2    Wang, X.X.3
  • 5
    • 58849146684 scopus 로고    scopus 로고
    • A KCNH2 branch point mutation causing aberrant splicing contributes to explain genotype-negative long QT syndrome
    • Crotti L., Lewandowska M.A., Schwartz P.J., et al. A KCNH2 branch point mutation causing aberrant splicing contributes to explain genotype-negative long QT syndrome. Heart Rhythm 6 (2009) 212-218
    • (2009) Heart Rhythm , vol.6 , pp. 212-218
    • Crotti, L.1    Lewandowska, M.A.2    Schwartz, P.J.3
  • 6
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
    • Pagani F., Buratti E., Stuani C., et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 275 (2000) 21041-21047
    • (2000) J Biol Chem , vol.275 , pp. 21041-21047
    • Pagani, F.1    Buratti, E.2    Stuani, C.3
  • 7
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino N.A., and Cooper T.A. Pre-mRNA splicing and human disease. Genes Dev 17 (2003) 419-437
    • (2003) Genes Dev , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 8
    • 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. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90 (1992) 41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 9
    • 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. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3 (2002) 285-298
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 10
    • 12144285753 scopus 로고    scopus 로고
    • Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart
    • Ding J.H., Xu X., Yang D., et al. Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart. EMBO J 23 (2004) 885-896
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    • Ding, J.H.1    Xu, X.2    Yang, D.3
  • 11
    • 19944427655 scopus 로고    scopus 로고
    • ASF/SF2-regulated CaMKIIδ alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle
    • Xu X., Yang D., Ding J.H., et al. ASF/SF2-regulated CaMKIIδ alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle. Cell 120 (2005) 59-72
    • (2005) Cell , vol.120 , pp. 59-72
    • Xu, X.1    Yang, D.2    Ding, J.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.