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Volumn 25, Issue 1, 2000, Pages 105-109

Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; HOMEODOMAIN PROTEIN;

EID: 0034019306     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75490     Document Type: Article
Times cited : (205)

References (30)
  • 1
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1
  • 2
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1
  • 3
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253-1255 (1992).
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1
  • 4
    • 8944235350 scopus 로고    scopus 로고
    • Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
    • Jansen, G. et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet. 13, 316-324 (1996).
    • (1996) Nature Genet. , vol.13 , pp. 316-324
    • Jansen, G.1
  • 5
    • 8944259903 scopus 로고    scopus 로고
    • Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
    • Reddy, S. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet. 13, 325-335 (1996).
    • (1996) Nature Genet. , vol.13 , pp. 325-335
    • Reddy, S.1
  • 6
    • 0033557293 scopus 로고    scopus 로고
    • DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
    • Berul, C.I. et al. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J. Clin. Invest. 103, R1-7 (1999).
    • (1999) J. Clin. Invest. , vol.103
    • Berul, C.I.1
  • 7
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert, T.R., Otten, A.D., Bird, T.D. & Tapscott, S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet 16, 402-406 (1997).
    • (1997) Nature Genet , vol.16 , pp. 402-406
    • Klesert, T.R.1    Otten, A.D.2    Bird, T.D.3    Tapscott, S.J.4
  • 8
    • 0030861573 scopus 로고    scopus 로고
    • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
    • Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C. & Moxley, R.T. III Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet. 16, 407-409 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 407-409
    • Thornton, C.A.1    Wymer, J.P.2    Simmons, Z.3    McClain, C.4    Moxley R.T. III5
  • 10
    • 0030947268 scopus 로고    scopus 로고
    • Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus
    • Heath, S.K., Carne, S., Hoyle, C., Johnson, K.J. & Wells, D.J. Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum. Mol. Genet. 6, 651-657 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 651-657
    • Heath, S.K.1    Carne, S.2    Hoyle, C.3    Johnson, K.J.4    Wells, D.J.5
  • 11
    • 0028151491 scopus 로고
    • Possible role of apamin-sensitive K+ channels in myotonic dystrophy
    • Behrens, M.I., Jalil, P., Serani, A., Vergara, F. & Alvarez, O. Possible role of apamin-sensitive K+ channels in myotonic dystrophy. Muscle Nerve 17, 1264-1270 (1994).
    • (1994) Muscle Nerve , vol.17 , pp. 1264-1270
    • Behrens, M.I.1    Jalil, P.2    Serani, A.3    Vergara, F.4    Alvarez, O.5
  • 12
    • 0030044626 scopus 로고    scopus 로고
    • Neural control of the expression of a Ca(2+)-activated K+ channel involved in the induction of myotonic-like characteristics
    • Ramirez, B.U., Behrens, M.I. & Vergara, C. Neural control of the expression of a Ca(2+)-activated K+ channel involved in the induction of myotonic-like characteristics. Cell. Mol. Neurobiol. 16, 39-49 (1996).
    • (1996) Cell. Mol. Neurobiol. , vol.16 , pp. 39-49
    • Ramirez, B.U.1    Behrens, M.I.2    Vergara, C.3
  • 13
    • 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. & Roeder, R.G. 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).
    • (1996) Nucleic Acids Res. , vol.24 , pp. 303-310
    • Kawakami, K.1    Ohto, H.2    Ikeda, K.3    Roeder, R.G.4
  • 14
    • 0030590443 scopus 로고    scopus 로고
    • Identification and expression of six family genes in mouse retina
    • Kawakami, K., Ohto, H., Takizawa, T. & Saito, T. Identification and expression of six family genes in mouse retina. FEBS Lett. 393, 259-263 (1996).
    • (1996) FEBS Lett. , vol.393 , pp. 259-263
    • Kawakami, K.1    Ohto, H.2    Takizawa, T.3    Saito, T.4
  • 15
    • 0030046504 scopus 로고    scopus 로고
    • Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy
    • Damiani, E. et al. Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy. Neuromuscul. Disord. 6, 33-47 (1996).
    • (1996) Neuromuscul. Disord. , vol.6 , pp. 33-47
    • Damiani, E.1
  • 16
    • 0028244770 scopus 로고
    • The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system
    • Cheyette, B.N. et al. The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system. Neuron 12, 977-996 (1994),
    • (1994) Neuron , vol.12 , pp. 977-996
    • Cheyette, B.N.1
  • 17
    • 0033558871 scopus 로고    scopus 로고
    • Six3 overexpression initiates the formation of ectopic retina
    • Loosli, F., Winkler, S. & Wittbrodt, J. Six3 overexpression initiates the formation of ectopic retina. Genes Dev. 13, 649-654 (1999).
    • (1999) Genes Dev. , vol.13 , pp. 649-654
    • Loosli, F.1    Winkler, S.2    Wittbrodt, J.3
  • 18
    • 0031444287 scopus 로고    scopus 로고
    • The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development
    • Pignoni, F. et al. The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 91, 881-891 (1997).
    • (1997) Cell , vol.91 , pp. 881-891
    • Pignoni, F.1
  • 19
    • 0032825495 scopus 로고    scopus 로고
    • Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya
    • Ohto, H. et al. Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya. mol. Cell. biol. 19, 6815-6824 (1999).
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 6815-6824
    • Ohto, H.1
  • 20
    • 0032977087 scopus 로고    scopus 로고
    • Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
    • Winchester, C.L., Ferrier, R.K., Sermoni, A., Clark, B.J. & Johnson, K.J. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet. 8, 481-492 (1999).
    • (1999) Hum Mol Genet. , vol.8 , pp. 481-492
    • Winchester, C.L.1    Ferrier, R.K.2    Sermoni, A.3    Clark, B.J.4    Johnson, K.J.5
  • 21
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips, A.V., Timchenko, L.T. & Cooper, T.A, Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741 (1998).
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 22
    • 0032837677 scopus 로고    scopus 로고
    • Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
    • Amack, J.D., Paguio, A.P. & Mahadevan, M.S. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum. Mol. Genet. 8, 1975-1984 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1975-1984
    • Amack, J.D.1    Paguio, A.P.2    Mahadevan, M.S.3
  • 23
    • 0033073594 scopus 로고    scopus 로고
    • Myotonic dystrophy: The role of RNA CUG triplet repeats
    • Timchenko, L.T. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am. J. Hum. Genet. 64, 360-364 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 360-364
    • Timchenko, L.T.1
  • 24
    • 0029837246 scopus 로고    scopus 로고
    • Myotonic dystrophy: Will the real gene please step forward
    • Harris, S., Moncrieff, C. & Johnson, K. Myotonic dystrophy: will the real gene please step forward. Hum. Mol. Genet. 5, 1417-1423 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1417-1423
    • Harris, S.1    Moncrieff, C.2    Johnson, K.3
  • 25
    • 0032211409 scopus 로고    scopus 로고
    • Expanding the complexity in myotonic dystrophy
    • Groenen, P. & Wieringa, B. Expanding the complexity in myotonic dystrophy. Bioessays 20, 901-912 (1998).
    • (1998) Bioessays , vol.20 , pp. 901-912
    • Groenen, P.1    Wieringa, B.2
  • 26
    • 0032520688 scopus 로고    scopus 로고
    • Myotonic dystrophy: Molecular windows on a complex etiology
    • Korade-Mirnics, Z., Babitzke, P. & Hoffman, E. Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res. 26, 1363-1368 (1998).
    • (1998) Nucleic Acids Res. , vol.26 , pp. 1363-1368
    • Korade-Mirnics, Z.1    Babitzke, P.2    Hoffman, E.3
  • 28
    • 0032995065 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    • Day, J.W. et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul. Disord. 9, 19-27 (1999).
    • (1999) Neuromuscul. Disord. , vol.9 , pp. 19-27
    • Day, J.W.1
  • 29
    • 0028845993 scopus 로고
    • Inhibition of lens opacification during the early stages of cataract formation
    • Hiraoka, T. & Clark, J.I. Inhibition of lens opacification during the early stages of cataract formation. Invest. Opthalmol. Vis. Sci. 36, 2550-2555 (1995).
    • (1995) Invest. Opthalmol. Vis. Sci. , vol.36 , pp. 2550-2555
    • Hiraoka, T.1    Clark, J.I.2
  • 30
    • 0029918607 scopus 로고    scopus 로고
    • Delay or inhibition of rat lens opacification using pantethine and WR-77913
    • Clark, J.I., Livesey, J.C. & Steele, J.E. Delay or inhibition of rat lens opacification using pantethine and WR-77913. Exp. Eye Res. 62, 75-84 (1996).
    • (1996) Exp. Eye Res. , vol.62 , pp. 75-84
    • Clark, J.I.1    Livesey, J.C.2    Steele, J.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.