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Volumn 5, Issue REVIEW, 1996, Pages 1417-1423

Myotonic dystrophy: Will the real gene please step forward!

Author keywords

[No Author keywords available]

Indexed keywords

CHROMATIN STRUCTURE; GENE LOCUS; GENE MUTATION; GENETIC MODEL; MOLECULAR GENETICS; MYOTONIC DYSTROPHY; POPULATION GENETICS; PRIORITY JOURNAL; RNA PROCESSING; SHORT SURVEY;

EID: 0029837246     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.supplement_1.1417     Document Type: Short Survey
Times cited : (74)

References (64)
  • 8
    • 0026885037 scopus 로고
    • Anticipation in myotonic-dystrophy - New light on an old problem
    • Harper, P.S., Harley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic-dystrophy - new light on an old problem. Am. J. Hum.Genet., 51, 10-16.
    • (1992) Am. J. Hum.Genet. , vol.51 , pp. 10-16
    • Harper, P.S.1    Harley, H.G.2    Reardon, W.3    Shaw, D.J.4
  • 10
    • 0027291764 scopus 로고
    • Myotonic dystrophy: Absence of CTG enlarged transcript in congenital form and low expression of the normal allele
    • Hoffman-Radvanyi, H., Lavedan, C., Rabes, J.P., Savoy, D., Duros, C., Johnson, K. and Junien, C. (1993) Myotonic dystrophy: absence of CTG enlarged transcript in congenital form and low expression of the normal allele. Hum. Mol. Genet., 2, 1263-1266.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1263-1266
    • Hoffman-Radvanyi, H.1    Lavedan, C.2    Rabes, J.P.3    Savoy, D.4    Duros, C.5    Johnson, K.6    Junien, C.7
  • 12
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle than in lymphocytes from patients with myotonic dystrophy
    • Anvret, M., Grandell, U., Ahlberg, G., Hedberg, B., Johnson, K.J. and Edstrom, L. (1993) Larger expansions of the CTG repeat in muscle than in lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2, 1397-1400.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1397-1400
    • Anvret, M.1    Grandell, U.2    Ahlberg, G.3    Hedberg, B.4    Johnson, K.J.5    Edstrom, L.6
  • 13
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton, C., Johnson, K.J., and Moxley, R. (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107
    • (1994) Ann. Neurol. , vol.35 , pp. 104-107
    • Thornton, C.1    Johnson, K.J.2    Moxley, R.3
  • 14
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males - Small pool PCR analyses
    • Monckton, D.G., Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males - small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 15
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy offspring
    • Redman, J.B., Fenwick, R.G., Fu, Y.H and Pizzuti, A. (1993) Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy offspring. J. Am. Med Assoc., 269, 1960-1965.
    • (1993) J. Am. Med Assoc. , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.H.3    Pizzuti, A.4
  • 16
    • 0029085338 scopus 로고
    • Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
    • Martorell, L., Martinez, J.M., Carey, N., Johnson, K.J. and Baiget, M. (1995) Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J. Med. Genet., 32, 593-596.
    • (1995) J. Med. Genet. , vol.32 , pp. 593-596
    • Martorell, L.1    Martinez, J.M.2    Carey, N.3    Johnson, K.J.4    Baiget, M.5
  • 17
    • 0027416569 scopus 로고
    • Characterisation and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy
    • Mahadevan, M.S., Foitzik, M.A., Surh, L.C. and Korneluk, R.G. (1993) Characterisation and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics, 15, 446-448.
    • (1993) Genomics , vol.15 , pp. 446-448
    • Mahadevan, M.S.1    Foitzik, M.A.2    Surh, L.C.3    Korneluk, R.G.4
  • 18
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert, G., Kretz, C., Johnson, K. and Mandel, J.-L. (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet., 4, 72-76.
    • (1993) Nature Genet. , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.-L.4
  • 20
    • 0028156915 scopus 로고
    • High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
    • Neville, C.E., Mahadevan, M.S., Barcelo, J.M. and Korneluk, R.G. (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum. Mol. Genet., 3, 45-51.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 45-51
    • Neville, C.E.1    Mahadevan, M.S.2    Barcelo, J.M.3    Korneluk, R.G.4
  • 22
    • 0029038408 scopus 로고
    • New founder haplotypes at the myotonic dystrophy locus in Southern Africa
    • Goldman, A., Ramsay, M. and Jenkins, T. (1995) New founder haplotypes at the myotonic dystrophy locus in Southern Africa. Am. J. Hum. Genet., 56, 1373-1378.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1373-1378
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 23
    • 0028902594 scopus 로고
    • The Drosophila tumour suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation
    • Justice, R.W., Zilian, O., Woods, D.F., Noll, M. and Bryant, P.J. (1995) The Drosophila tumour suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes Dev., 9, 534-546.
    • (1995) Genes Dev. , vol.9 , pp. 534-546
    • Justice, R.W.1    Zilian, O.2    Woods, D.F.3    Noll, M.4    Bryant, P.J.5
  • 24
    • 0026583041 scopus 로고
    • cot-1, a gene required for hyphal elongation in Neurospora crassa, encodes a protein kinase
    • Yarden, O., Plamann, M., Ebbole, D.J. and Yanofsky, C. (1992) cot-1, a gene required for hyphal elongation in Neurospora crassa, encodes a protein kinase. EMBO J., 11, 2159-2166.
    • (1992) EMBO J. , vol.11 , pp. 2159-2166
    • Yarden, O.1    Plamann, M.2    Ebbole, D.J.3    Yanofsky, C.4
  • 25
    • 0025210546 scopus 로고
    • The product of the Saccharomyces cerevisiae cell cycle gene DBF2 has homology with protein kinases and is periodically expressed in the cell cycle
    • Johnston, L.H., Eberly, S.L., Chapman, H., Araki, H. and Sugino, A. (1990) The product of the Saccharomyces cerevisiae cell cycle gene DBF2 has homology with protein kinases and is periodically expressed in the cell cycle. Mol. Cell Biol., 10, 1358-1366.
    • (1990) Mol. Cell Biol. , vol.10 , pp. 1358-1366
    • Johnston, L.H.1    Eberly, S.L.2    Chapman, H.3    Araki, H.4    Sugino, A.5
  • 26
    • 0025768388 scopus 로고
    • The cell-cycle regulated budding yeast gene DBF2, encoding a putative protein kinase, has a homologue that is not under cell-cycle control
    • Toyn, J.H., Araki, H., Sugino, A. and Johnston, L.H. (1991) The cell-cycle regulated budding yeast gene DBF2, encoding a putative protein kinase, has a homologue that is not under cell-cycle control. Gene, 104, 63-70.
    • (1991) Gene , vol.104 , pp. 63-70
    • Toyn, J.H.1    Araki, H.2    Sugino, A.3    Johnston, L.H.4
  • 28
    • 0029351158 scopus 로고
    • Drosophila WARTS - Tumour suppressor and member of the myotonic dystrophy protein kinase family
    • Watson, K.L. (1995) Drosophila WARTS - tumour suppressor and member of the myotonic dystrophy protein kinase family. BioEssays, 17, 673-676.
    • (1995) BioEssays , vol.17 , pp. 673-676
    • Watson, K.L.1
  • 29
    • 0028104051 scopus 로고
    • Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
    • Dunne, P.W., Walch, E.T. and Epstein, H.F. (1994) Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry, 33, 10809-10814.
    • (1994) Biochemistry , vol.33 , pp. 10809-10814
    • Dunne, P.W.1    Walch, E.T.2    Epstein, H.F.3
  • 30
    • 0028219886 scopus 로고
    • The Dbf2 and Dbf20 protein kinases of budding yeast are activated after the metaphase to anaphase cell cycle transition
    • Toyn, J.H. and Johnston, L.H. (1994) The Dbf2 and Dbf20 protein kinases of budding yeast are activated after the metaphase to anaphase cell cycle transition. EMBO J., 13, 1103-1113.
    • (1994) EMBO J. , vol.13 , pp. 1103-1113
    • Toyn, J.H.1    Johnston, L.H.2
  • 32
    • 0027504088 scopus 로고
    • Anti-oncogenes and human cancer
    • Knudson, A.G. (1993) Anti-oncogenes and human cancer. Proc. Natl Acad. Sci. USA, 90, 10914-10921.
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 10914-10921
    • Knudson, A.G.1
  • 33
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, R.A., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, R.A.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 42
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2, associated with FRAXE mental retardation
    • Gecz, J., Gedeon, A.K., Sutherland, G.R. and Mulley, J.C (1996) Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genet., 13, 105-108.
    • (1996) Nature Genet. , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 43
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu, Y., Shen, Y., Gibbs, R.A. and Nelson, D.L. (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet., 13, 109-113.
    • (1996) Nature Genet. , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.3    Nelson, D.L.4
  • 46
    • 0028932050 scopus 로고
    • Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
    • Wang, Y.H. and Griffith, J. (1995) Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics, 25, 570-573.
    • (1995) Genomics , vol.25 , pp. 570-573
    • Wang, Y.H.1    Griffith, J.2
  • 47
    • 0029059218 scopus 로고
    • Triplet repeat expansion in myotonic-dystrophy alters the adjacent chromatin structure
    • Otten, A.D. and Tapscott, S.J. (1995) Triplet repeat expansion in myotonic-dystrophy alters the adjacent chromatin structure. Proc. Natl Acad. Sci. USA, 92, 5465-5469.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 5465-5469
    • Otten, A.D.1    Tapscott, S.J.2
  • 49
    • 0029038947 scopus 로고
    • Structural organization and developmental expression pattern of the mouse Wd-repeat gene Dmr-N9 immediately upstream of the myotonic-dystrophy locus
    • Jansen, G., Bachner, D., Coerwinkel, M., Wormskamp, N., Hameister, H. and Wieringa, B. (1995) Structural organization and developmental expression pattern of the mouse Wd-repeat gene Dmr-N9 immediately upstream of the myotonic-dystrophy locus. Hum. Mol. Genet., 4, 843-852.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 843-852
    • Jansen, G.1    Bachner, D.2    Coerwinkel, M.3    Wormskamp, N.4    Hameister, H.5    Wieringa, B.6
  • 53
    • 0030059840 scopus 로고    scopus 로고
    • RNA recognition and translational regulation by a homeodomain protein
    • Dubnau, J. and Struhl, G. (1996) RNA recognition and translational regulation by a homeodomain protein. Nature, 379, 694-699.
    • (1996) Nature , vol.379 , pp. 694-699
    • Dubnau, J.1    Struhl, G.2
  • 55
    • 0027372107 scopus 로고
    • Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
    • Carango, P., Noble, J.E., Marks, H.G. and Funanage, V.L. (1993) Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics, 18, 340-348.
    • (1993) Genomics , vol.18 , pp. 340-348
    • Carango, P.1    Noble, J.E.2    Marks, H.G.3    Funanage, V.L.4
  • 59
    • 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
  • 60
    • 0030043709 scopus 로고    scopus 로고
    • Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy
    • Timchenko, L.T., Timchenko, N.A., Caskey, C.T. and Roberts, R. (1996) Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum. Mol. Genet., 5, 115-121.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 115-121
    • Timchenko, L.T.1    Timchenko, N.A.2    Caskey, C.T.3    Roberts, R.4
  • 63
    • 0029586039 scopus 로고    scopus 로고
    • Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease
    • Dunne, P.W., Ma, L., Casey, D.L., Harati, Y. And Epstein, H.F. (1996) Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease. Cell Motility Cytoskeleton, 33, 52-63.
    • (1996) Cell Motility Cytoskeleton , vol.33 , pp. 52-63
    • Dunne, P.W.1    Ma, L.2    Casey, D.L.3    Harati, Y.4    Epstein, H.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.