메뉴 건너뛰기




Volumn 8, Issue 6, 1999, Pages 1017-1023

Myotonic dystrophy: Tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; MESSENGER RNA; POLYADENYLIC ACID;

EID: 0033047455     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.6.1017     Document Type: Article
Times cited : (42)

References (38)
  • 3
    • 0031811594 scopus 로고    scopus 로고
    • Genetic mapping of a second myotonic dystrophy locus
    • Ranum, L., Rasmussen, P., Benzow, K., Koob, M. and Day, J. (1998) Genetic mapping of a second myotonic dystrophy locus. Nature Genet., 19, 196-198.
    • (1998) Nature Genet. , vol.19 , pp. 196-198
    • Ranum, L.1    Rasmussen, P.2    Benzow, K.3    Koob, M.4    Day, J.5
  • 5
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide CTG repeat at the 3′ end of the transcript encoded a protein kinase family member
    • Brook, J., Currach, M., Harley, H., Buckler, A., Church, D., Aburatani, H., Hunter, K., Stanton, V. et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide CTG repeat at the 3′ end of the transcript encoded a protein kinase family member. Cell, 68, 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.1    Currach, M.2    Harley, H.3    Buckler, A.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.8
  • 13
    • 0032520688 scopus 로고    scopus 로고
    • Myotonic dystrophy: Molecular windows on a complex etiology
    • Korade-Mirnics, Z., Babitzke, P. and Hoffman, E. (1998) Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res., 26, 1363-1368.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 1363-1368
    • Korade-Mirnics, Z.1    Babitzke, P.2    Hoffman, E.3
  • 17
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. and Singer, R.H. (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol., 128, 995-1002.
    • (1995) J. Cell Biol. , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 19
    • 0030968054 scopus 로고    scopus 로고
    • RNA metabolism in myotonic dystrophy: Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance
    • Morrone, A., Pegoraro, E., Angelini, C., Zammarchi, E., Marconi, G. and Hoffman, E. (1997) RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J. Clin. Invest., 99, 1691-1698.
    • (1997) J. Clin. Invest. , vol.99 , pp. 1691-1698
    • Morrone, A.1    Pegoraro, E.2    Angelini, C.3    Zammarchi, E.4    Marconi, G.5    Hoffman, E.6
  • 20
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips, A., Timchenko, L. and Cooper, T. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.1    Timchenko, L.2    Cooper, T.3
  • 21
    • 0030861573 scopus 로고    scopus 로고
    • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
    • Thormon, C., Wymer, J., Simmons, Z., McClain, C. and Moxley, R. III (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet., 16, 407-409.
    • (1997) Nature Genet. , vol.16 , pp. 407-409
    • Thormon, C.1    Wymer, J.2    Simmons, Z.3    McClain, C.4    Moxley R. III5
  • 22
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert, T., Otten, A., Bird, T. and Tapscott, S. (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet., 16, 402-406.
    • (1997) Nature Genet. , vol.16 , pp. 402-406
    • Klesert, T.1    Otten, A.2    Bird, T.3    Tapscott, S.4
  • 24
    • 84984933234 scopus 로고    scopus 로고
    • High density synthetic oligonucleotide arrays
    • Lipshutz, R., Fodor, S., Gingeras, T. and Lockhart, D. (1999) High density synthetic oligonucleotide arrays. Nature Genet., 21 (suppl.), 20-24.
    • (1999) Nature Genet. , vol.21 , Issue.SUPPL. , pp. 20-24
    • Lipshutz, R.1    Fodor, S.2    Gingeras, T.3    Lockhart, D.4
  • 27
    • 0030947268 scopus 로고    scopus 로고
    • Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus
    • Heath, S., Carne, S., Hoyle, C., Johnson, K. and Wells, D. (1997) Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum. Mol. Genet., 6, 651-657.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 651-657
    • Heath, S.1    Carne, S.2    Hoyle, C.3    Johnson, K.4    Wells, D.5
  • 28
    • 0029617682 scopus 로고
    • Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
    • Oliver, G., Mailhos, A., Wehr, R., Copeland, N.G., Jenkins, N.A. and Gruss, P. (1995) Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development. Development, 121, 4045-4055.
    • (1995) Development , vol.121 , pp. 4045-4055
    • Oliver, G.1    Mailhos, A.2    Wehr, R.3    Copeland, N.G.4    Jenkins, N.A.5    Gruss, P.6
  • 30
    • 0030590443 scopus 로고    scopus 로고
    • Identification and expression of six family genes in mouse retina
    • Kawakami, K., Ohio, H., Takizawa, T. and Saito, T. (1996) Identification and expression of six family genes in mouse retina. FEBS Lett., 393, 259-263.
    • (1996) FEBS Lett. , vol.393 , pp. 259-263
    • Kawakami, K.1    Ohio, H.2    Takizawa, T.3    Saito, T.4
  • 31
    • 0029916927 scopus 로고    scopus 로고
    • Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development
    • Kawakami, K., Ohto, H., Ikeda, K. and Roeder, R.G. (1996) Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development. Nucleic Acids Res., 24, 303-310.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 303-310
    • Kawakami, K.1    Ohto, H.2    Ikeda, K.3    Roeder, R.G.4
  • 32
    • 0029892086 scopus 로고    scopus 로고
    • Cloning of the human SIX1 gene and its assignment to chromosome 14
    • Boucher, C.A., Carey, N., Edwards, Y.H., Siciliano, M.J. and Johnson, K.J. (1996) Cloning of the human SIX1 gene and its assignment to chromosome 14. Genomics, 33, 140-142.
    • (1996) Genomics , vol.33 , pp. 140-142
    • Boucher, C.A.1    Carey, N.2    Edwards, Y.H.3    Siciliano, M.J.4    Johnson, K.J.5
  • 33
    • 0031053157 scopus 로고    scopus 로고
    • A combination of MEF3 and NFI proteins activates transcription in a subset of fast-twitch muscles
    • Spitz, F., Salminen, M., Demignon, J., Kahn, A., Daegelen, D. and Maire, P. (1997) A combination of MEF3 and NFI proteins activates transcription in a subset of fast-twitch muscles. Mol. Cell. Biol., 17, 656-666.
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 656-666
    • Spitz, F.1    Salminen, M.2    Demignon, J.3    Kahn, A.4    Daegelen, D.5    Maire, P.6
  • 34
    • 0030740466 scopus 로고    scopus 로고
    • Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
    • Hamshere, M., Newman, E., Alwazzan, D., Athwal, D. and Brook, J. (1997) Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc. Natl Acad. Sci. USA, 94, 7394-7399.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 7394-7399
    • Hamshere, M.1    Newman, E.2    Alwazzan, D.3    Athwal, D.4    Brook, J.5
  • 35
    • 0030581164 scopus 로고    scopus 로고
    • Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
    • Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V. and Hastie, N.D. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell, 86, 71-82.
    • (1996) Cell , vol.86 , pp. 71-82
    • Schedl, A.1    Ross, A.2    Lee, M.3    Engelkamp, D.4    Rashbass, P.5    Van Heyningen, V.6    Hastie, N.D.7
  • 36
    • 0031783721 scopus 로고    scopus 로고
    • A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy
    • Gennarelli, M., Pavoni, M., Amicucci, P., Novelli, G. and Dallapiccola, B. (1998) A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn. Mol. Pathol., 7, 135-137.
    • (1998) Diagn. Mol. Pathol. , vol.7 , pp. 135-137
    • Gennarelli, M.1    Pavoni, M.2    Amicucci, P.3    Novelli, G.4    Dallapiccola, B.5
  • 38
    • 0028229055 scopus 로고
    • Pathophysiology of sodium channelopathies
    • Zhou, J. and Hoffman, E. (1994) Pathophysiology of sodium channelopathies. J. Biol. Chem., 269, 18563-18571.
    • (1994) J. Biol. Chem. , vol.269 , pp. 18563-18571
    • Zhou, J.1    Hoffman, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.