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Alwazzan, M., Newman, E., Hamshere, M. G., and Brook, J. D. (1999). Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet 8 , 1491-1947.

Amack, J. D., and Mahadevan, M. S. (2001). The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. Hum Mol Gen 1 0, 1879-1887.

Amack, J. D., Paguio, A. P., and Mahadevan, M. S. (1999). Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum Mol Gen 8 , 1975-1984.

Amack, J.D. Reagan, S. R., and Mahadevan, M. S. (2002). Mutant DMPK 3’UTR transcripts disrupt C2C12 myogenic differentiation by compromision MyoD. J Cell Biol 159 , 419-429.

Ashizawa, T., Anvret, M., Baiget, M., Barcelo, J. M., Brunner, H., Cobo, A. M., Dallapiccola, B., Fenweck, R. G., Jr., Grandell, U., Harley, H., and et al. (1994). Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 54 , 414-423.

Ashizawa, T, Dubel, J.R., Dunne, P. W., Dunne, C. J., Fu, Y. H., Pizzuti, A., Caskey, C. T., Boerwinkle, E., Perryman, M. B., Epstein, H. F., and et al. (1992). Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the CTG repeat. Neurology 42 , 1877-1883.

Aslanidis, C., Jansen, G., Amemiya, C., Shotler, G., Mahadevan, M., Tsilfidis, C., Chen, C. Alleman, J., Wormskamp, N. G., Vooijs, M, and et al. (1992). Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 335 , 548-551.

Barcelo, J. M., Mahadevan, M.S., Tsifidis, C., MacKenzie, A. E., and Korneluk, R. G. (1993). Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Gen 2 , 705-709.

Begemann, G., Paracio, N., Artero, R., Kiss, I., Perez-Alonso, M., and Mlodizk, M. (1997). Musclebind, a gene required for photoreceptor differentiation in Drosophilia, encodes novel nuclear Cys3His-type zinc-finger-containning proteins. Developpement 124 , 4321-4331.

Berul, C. I., Maguire, C. T., Aronovitz, M. J., Greenwood, J., Miller, C., Gehrmann, J., Housman, D., Mendelsohn, M. D., and Reddy, S. (1999). DMPK dosage alteractions result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 103 , R1-7.

Bhagwati, S., Shafiq, S. A., and Xu, W. (1999). (CTG)n repeats markedly inhibit differentiation of the C2C12 myoblast cell line: implications for congenital myotonic dystrophy. Biochim Biophys Acta 1453 , 221-229.

Boucher, C. A., King, S. K., Carey, N., Krahe, R., Winchester, C. L., Rahman, S., Creavin, T., Meghji, P., Bailey, M. E., Chartier, F. L., and et al. (1995). A novel homeodomain encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Gen 4 , 1919-1925.

Brice. A. (1998). Usnstable mutations and neurodegenerative disorders. J Neurol, 245 , 505-510.

Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A. J., Church, D., Aburatani, H., Hunter, K., Stanton, V. P., Thirion, J. P., Hudson, T., and et al. (1992). 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 69 , 385.

Buj-Bello, A., Furling, D., Tronchere, H., Laporte, J., Lerouge, T., Butler-Browne, G. S., and Mandel, J. L. (2002). Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Gen 11 , 2297-2307.

Buxton, J., Shelbourne, P., Davies, J., Jones, C., Van Tongeren, T., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B., and et al. (1992). Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 , 547-548.

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.

Caskay, C. T., Swanson, M. S., and Timchenko, L. T. (1996). Myotonic dystrophy: discussion of molecular mechanism. Cold Spring Harb Symp Quant Biol 61 , 607-614.

Charlet, B. N., Savkur, R.S., Singh, G., Philips, A. V., Grice, E. A., and Cooper, T. A. (2002). Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10 , 45-53.

Chen, C. D., Kobayashi, R., and Helfman, D. M. (1999). Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tromomyosin gene. Genes Dev 13 , 593-606.

Cuenda A. and Cohen P. (1999). Stress-activated protein kinase-2/p38 and a rapamycin-sensitive pathway are required for C2C12 myogenesis. J Biol Chem. 274 , 4341-4346.

Davis, B. M., McCurrack, M. E., Taneja., K. L., Singer, R. H., and Housman, D. E. (1997). Expansion of a CUG trinucleotide repeat in the 3’ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 94 , 7388-7393.

Davis, R. L., H. Weintraub and A.B. Lassar AB. (1987). Expression of a single transfected cDNA converts fibroblasts to myoblasts. Cell 51 : 987-1000.

Ebralidze A., Wang Y., Petkova V., Ebralidse K. and Junghans R.P. (2004). RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303 , 383-387.

Fardaei, M., Rogers, M. T., Thorpe, H. M., Larkin, K., Hamshere, M. G., Harper, P. S., and Brook, J. D. (2002). 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 11 , 805-814.

Farkas-Bargeton E., Barbet J.P., Dancea S., Wehrle R., Checouri A. and Dulac O. (1988). Immaturity of muscle fibers in the congenital form of myotonic dystrophy: its consequences and its origin. J Neurol Sci. 83 , 145-159.

Faustino, N. A., and Coper, T. A. (2003). Pre-mRNA splicing and human disease. Genes Dev 17 , 419-437.

Filippova, G. N, Thienes, C. P., Penn, B. H., Cho, D. H., Hu, Y. J., Moore, J. M., Klesert, T. R., Lobanenkov, V. V., and Tapscott, S. J. (2001). CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 28 , 335-343.

Franke, C., Hatt, H., Iaizzo, P. A., and Lehmann-Horn, F. (1990). Caracteristics of Na+ channels and Cl- conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol 425 , 391-405.

Freudenreich, C. H., Stavenhagen, J. B., and Zakian, V. A. (1997). Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol Cell Biol 17 , 2090-2098.

Fu, Y. H., Friedman, D. L., Richards, S., Pearlman, J. A., Gibbs, R. A., Pizzuti, A., Ashizawa, T., Perryman, M. B., Scarlato, G., Fenwick, R. G., Jr., et al. (1993). Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260 , 235-238.

Fu, Y. H., Pizzuti, A., Fenwick, R. G., Jr., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, Gé A., Ashizawa, T., de Jong, P., et al. (1992). An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 , 1256-1258.

Furling, D., Coiffier, L., Mouly, V., Varbet, J. P., St Guily, J. L., Taneja, K., Gourdon, G., Junien, C., and Butler-Browne, G. S. (2001). Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 10 , 2079-2087.

Furling, D., Lam le, T., Agbulut, O., Butler-Browne, G. S., and Morris, G. E. (2003). Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Ma J Pathol 162 , 1001-1009.

Furling, D., Lemieux, D., Taneja, K., and Puymirat, J. (2001b). Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy muoblasts. Neuromuscul Disord 11 , 728-735.

Goldhamer D.J., Brunk B.P., Faerman A., King A., Shani M. andEmerson C.P. Jr. (1995). Embryonic activation of the myoD gene is regulated by a highly conserved distal control element. Devel. 121 , 637-649.

Gourdon, G., Radvanyi, F., Lia, A. S., Duros, C., Blanche, M., Abitbol, M., Junien, C., and Hofmann-Radvanyi, H. (1997). Moderate intergenerational and somatic instability of a 55 CTG repeat in transgenic mice. Nat Genet 15 , 190-192.

Groenen, P. J., Wansink, D. G., Coerwinkel, M., van den Broek, W., Jansen, G., and Wieringa, B. (2000). Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Hum Mol Genet 9 , 605-616.

Guo K, Wang J, Andres V, Smith RC, Walsh K. (1995). MyoD-induced expression of p21 inhibits cyclin-dependent kinase activity upon myocyte terminal differentiation. Mol Cell Biol. 15 , 3823-3829.

Hall, I. M., Shankaranarayana, G. D., Noma, K., Ayoub, N., Cohen, A., and Grewal, S. I. (2002). Establishment and maintenance of a heterochromatin domain. Science 297 , 2232-2237.

Hamshere, M. G., Newman, E. E., Alwazzan, M., Athwal, B. S., and Brook, J. D. (1997). Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci U S A 94 , 7394-7399.

Hark, A. T., Schoenherr, C. U., Katz, D. J., Ingram, R. S., Levorse, J. M., and Tilghman, S. M. (2000). CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405 , 486-489.

Harley, H. G., Rundle, S. A., MacMillan, J. C., Myring, J., Brook, J. D., Crow, S., Reardon, W., Fenton, I., Shaw, D. J., and Harper, P. S. (1993). Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52 , 1164-1174.

Harley, H. G., Walsh, K. V., Rnudle, S., Brook, J. D., Sarfarazi, M., Koch, M. C., Floyd, J. L. Harper, P. S., and Shaw, D. J. (1991). Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q. Hum Genet 87 , 73-80.

Harper, P. S. (2001). Myotonic Dystrophy, Vol 37, Third Edition edn (London, W. B Saunders).

Hofmann-Radvanyi, G., Lavedan, C., Rabes, J. P., Savoy, D., Duros, C., Johnson, K., and Junien, C. (1993). Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet 2 , 1263-1266.

Iyer, R. R., and Wells R. D. (1999). Expansion and deletion of riplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication. J Biol Chem 274 , 3865-3877.

Jansen, G., Bartolomei, M., Kalscheuer, V., Merks, G., Wormskamp, N., Mariman, W., Smeets, D., Ropers, H. H., and Wieringa, B. (1993). No imprinting involved in the expression of DM-kinase mNAs in mouse and human tissues. Hum Mol Genet 2 , 1221-1227.

Jansen, G., Groenen, P. J., Bachner, D., Jap, P. H., Coerwinkel, M., Oerlemans, F., van den Broek, W., Gohlsch, B., Pette, D., Plomp, J. J., et al, (1996). Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 13 , 316-324.

Jaworski, A., Raosche, W. A., Gellibolian, R., Kang, S., Shimizu, M., Bowater, R. P., Sinden, R. R., and Wells, R. D. (1995). Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats form human hereditary diseases. Proc Natl Acad Sci U S A 92 , 11019-11023.

Kanadia R.N., Johnstone K.A., Mankodi A., Lungu C., Thornton C.A., Esson D., Timmers A.M., Hauswirth W.W. and Swanson M.S. (2003). A muscleblind knockout model for myotonic dystrophy. Science 302 , 1978-1980.

Kang, S., Jaworski, A., Ohshima, K., and Wells, R. D. (1995). Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10 , 213-218.

Kassar-Duchossoy, L., Gayraud-Morel, B., Gomes, D., Rocancourt, D., Buckingham, M., Shinin, V., Tajbakhsh, S. (2004). Mrf4 determines skeletal muscle identity in Myf5:Myod double-mutant mice. Nature 431 , 466-471

Khajavi, M., Tari, A. M., Patel, N., B., Tsuji, K., Siwak, D. R., Meistrich, M. L., Terry, N. H., and Ashizawa, T. (2001). “Bitotic drive” of expanded CT repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet 10 , 855-863.

Klesert, T. R., Cho, D. H., Clark, J. O., Maylie, J., Adelman, J., Snider, L., Yuen, E. C., Soriano, P., and Tapscott, S. J. (2000). Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 25 , 105-109.

Klesert, T. R., Otten, A. D., Bird, T. D., ans Tapscott, S. J. (1997). Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 16 , 402-406.

Knight, S. J., Flannery, A. V., Hirst, M. C., Campbell, L., Lhristodoulou, Z., Phelps, S. R., Pointon, J., Middleton-Price, H. R., Barnicoat, A., Pembrey, M. E., et al. (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74 , 127-134.

Korade-Mimics, Z., Babitzke, P. and Hoffmann, E., (1998). Myotonic dystrophy: molecular window of a complex etiology. Nucleic Acid Research 26 , 1363-1368.

Koty, P. P., Pegoraro, E., Hobson, G., Marks, H. G., Turel, A., Flagler, D., Cadaldini, M., Angelini, C., and Hoffman, E. P. (1996). Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 47 , 963-968.

Krahe, R., Ashizawa, T., Abbruzzese, C., Roeder, E., Carango, P., Giacanelli, M., Funanage, V. L., and Siciliano, M. J. (1995). Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28 , 1-14.

Labos-Quintana, M., Rauhut, R., Lendeckel, W., and Tuschl, T. (2000). Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Hum Mol Genet 9 , 2167-2173.

Lassar A.B., Thayer M.J., Overell R.W. and Weintraub H. (1989). Transformation by activated ras or fos prevents myogenesis by inhibiting expression of MyoD1.

Cell 58 , 659-667.

Lehmann-Horn, R., and Jurkat-Rott, K. (1999). Voltage-gated ion channels and hereditary disease. Physiol Rev 79 , 1317-1372.

Lui, J., Beqaj, S., Yang, Y., Honore, B., and Schuger, L. (2001). Heterogeneous nuclear ribonucleoprotein-h plays a suppressive role in visceral myogenesis. Mech Dev 104 , 79-87.

Lu, X., Timchenko, N. A., and Timchenko, L, T. (1999). Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum Mol Genet 8 , 53-60.

Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O’Hoy, K., et al. (1992). Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science 255 , 1253-1255.

Mahadevan, M. S., Amemiya, C., Jansen, G., Sabourin, L, Baird, s., Neville, C. E., Wormskamp, N., Segers, B., Batzer, M., Lamerdin, J., et al. (1993). Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet 2 , 299-304.

Mankodi, A., Logigian, E., callahan, L., McClain, C., White R., Henderson, D., Krym, M., and Thornton, C. A. (2000). Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289 , 1769-1773.

Mankodi, A., Takahashi, M. P., Jiang, H., Deck, c. L., Bowers, W. J., Moxley, R. T., Cannon, S. C., and Thornton, C. A. (2002). Expanded CUG repeats trigger aberrant splicing of ClC-1 choloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10 , 35-44.

Mankodi, A., and Thornton, C. A. (2002). Myotonic syndromes. Curr Poin Neurol 15 , 545-552.

Mankodi, A., Urbinati, C. R., Yuan, Q. P., Moxley, R. T., Sansone, V., Krym, M., Henderson, D., Schalling, M., Swanson, M. S., and Thornton, C. A. (2001). Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10 , 2165-2170.

Mariappan, S. V., Garcoa, A. E., and Gupta, G. (1996). Struture and dynamics of the DNA hairpins formed by tandemly repeated CTG triplets associated with myotonic dystrophy. Nucleic Acids Res 24 , 775-783.

Markovtsov, V., Nikolic, J. M., Goldman, J. A., Turck, c. W., Chou, M. Y., and Black, D. L. (2000). Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein. Mol Cell Biol 20 , 7463-7479.

Martin, J. B. (1999). Molecular basis of the neurodegenerative disorders. N Engl J Med 340 , 1970-1980.

Martorell, L., Johnson, K., Boucher, C. A., and Baiget, M. (1997). Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet 6 , 877-880.

Martorell, L., Monckton, D. G., Gamez, J., Johnson, K. J., Gich, I., de Munain, A. L., and Baiget, M. (1998). Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 7 , 307-312.

Michalowski, S., Miller, J. W., Urbinati, C. R., Paliouras, M., Swanson, M. S., and Griffith, J. (1999). Visualization of double-stranded RNAs form the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res 27 , 3534-3542.

Miller, J. W., Urbinati, C. R., Teng-Umnuay, P., Stenberg, M. G., Byrne, B. J., Thornton, C. A., and Swanson, M. S. (2000). Recruitement of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. Embo J 19 , 4439-4448.

Moller, D. E., Yokota, A., Caro, J. F. and Flier, J. S. (1989). Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol Endocrinol 3 , 1263-1269.

Monckton, D. G., Coolbaugh, M. I., Ashizawa, K. T., Siciliano, M. J., and Caskey, C. T. (1997). Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat Genet 15 , 193-196.

Monckton, D. G., Wong, L, J., Ashizawa, T. and Caskey, C. T. (1995). Somatic mosaicism, germline exansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4 , 1-8.

Mounsey, J. P., Mistry, D. J., Ai, C. W., Reddy, S., and Moorman, J. R. (2000). Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum Mol Genet 9 , 2313-2320.

Moxley, R. T., 3 rd (1992). Myotonic muscular dystrophy. In Handbook of clinical neurology: Myopathies, L. P. Rowland, and S. DiMauro, eds. (Elsevier Science Publishers B. V.), pp. 686.

Paulson, H. L., and Fischbeck, K. H. (1996). Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19 , 79-107.

Philips, A. V., Timchenko, L. T., and Cooper, T. A. (1998). Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280 , 737-741.

Reddy, S., Smith, D. B., Rich, M. M., leferovich, J. M., Reilly, P., Davis, B. M., Tran, K., Rayburn, H., Bronson, r., Cros. D. and al. (1996). Mice laking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13 , 325-335.

Ricker, K., Koch, M. C., Lehmann-Horn, F., Pongratz, D., Otto. M., Heine, R., and Moxley, R. T., 3 rd (1994). Proximal myotonic myopathy: a new dominant disorder eith myotonia, muscle weakness, and cataracts. Neurology 44 , 1448, 1452.

Roberts, R., Timchenko, N. A., Miller, J. W., Reddy, S., Caskey C. T., Swanson, M. S., and Timchenko, L. T. (1997). Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc Natl Acad Sci U S A 94 , 13221-13226.

Rudnicki M.A. and Jaenisch R. (1995). The MyoD family of transcription factors and skeletal myogenesis. Bioessays 17 , 203-209

Rudnicki, M. A., Schnegelsberg, P. N., stead, R.H., Braun, T., Arnold, H. H., and Jaenisch, R. (1993). MyoD of Myf-5 is requiered for the formation of skeletal muscle. Cell 75 , 1351-1359.

Sabourin, L. A., Mahadevan, M. S., Harang, M., Lee, D. S., Surh, L. C., and Korneluk, R. G. (1993). Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nat Genet 4 , 233-238.

Sabourin, L. A., and Rudnicki, M. A. (2000). The molecular regulation of myogenesis. Clin Genet 57 , 16-25.

Samadashwily, G. M., Raca, G., and Mirkin, S. M. (1997). Trinucleotide repeats affect DNA replication in vivo. Nat Genet 17 , 298-304.

Sarkar, P. S., Appukuttan, B., Han, J., Ito, Y., Ai, C., Tsai, W., Chai, Y., Stout, J. T., and Reddy, S. (2000). Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 25 , 110-114.

Sarkar, P. s., Chang, H. C., Boudi, F. b., and Reddy, S. (1998). CTG repeats show bimodal amplification in E. coli. Cell 95 , 531-540.

Savkur, R. S., Philips, A. V. and cooper, T. A. (2001). Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29 , 40-47.

Seino, S., and Bell, G. I. (1989). Alternative splicing of human insulin receptor messenger RNA. Biochem Biophys Res Commun 159 , 312-316.

Sergeant, N., Sablonniere, B., Schraen-Maschke, S., Ghestem, A., Maurage, C. A., Wattez, A., Vermersch, P., and Delacourte, A. (2001). Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Benet 10 , 2143-2155.

Seznec H., Agbulut O., Sergeant N., Savouret C., Ghestem A., Tabti N., Willer J.C., Ourth L., Duros C., Brisson E., Fouquet C., Butler-Browne G., Delacourte A., Junien C., and Gourdon G. (2001). Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet. 23 , 2717-2726.

Seznec, H., Lia-Galdini, A. S., Duros, C., Rouquet, C., Lacroix, C., Hofmann-Radvanyi, H., Junien, C., and Gourdon, G. (2000). Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet 9 , 1185-1194.

Shahani, H., and Brandt, R. (2002). Function and malfunctions of the tau proteins. Cell Mol Life Sci 59 , 1668-1680.

Shaw, D. J., Chaudhary, S., Rundle, S. A., Crow, S., Brook, J. D., Harper, P. S., and Harley, H. G., (1993). A study of DNA methylation in myotonic dystrophy. J Med Benet 30 , 189-192.

Smith, G. K., Jie, J., Fox, G. E., and Gao, Z. (1995). DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes. Nucleic Acids Res 23 , 4303-4311.

Squillace, R. M., Chenault, D. M., and Wang, E. H. (2002). Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Dev Biol 250 , 218-230.

Steinbach, P., Glaser, D., Vogel, W., Wolf, M., and Schwemmle, S. (1998). The DMPK gene of severely affected myotonic dystrophy is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet 62 , 278-285.

Takahashi, N., Sasagawa, N., suzuki, K., and Ishiura, S. (2000). The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system. Biochem Biophys Res Commun 277 , 518-523.

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.

Tapscott, S. J. (2000). Deconstructing myotonic dystrophy. Science 289 , 1701-1702.

Tapscott, S. J., and Thorthon, C. A. (2001). Biomedicine. Reconstructing myotonic dystrophy. Science 293 , 816-817.

Thorthon, C. A., Wymer, J. P., Simmons, Z., McClain, C., and Moxley, R. T., 3 rd (1997). Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 16 , 407-409.

Tian, B., White, R. J., Xia, T., Welle, S., Turner, D. H., Mathews, M. B., and Thornton, C. A. (2000). Expanded CUG repeat RNAs from hiarpins that activate the double-stranded RNA-dependant protein kinase PKR. Rna 6 , 79-87.

Timchenko, L. T., and Caskey, C. T. (1996). Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues. Faseb J 10 , 1589-1597.

Timchenko, L. T., Liller, J. W., Timchenko, N. A., DeVore, D. R., Datar, K. V., Lin, L., Roberts, R., Caskey, C. T., and Swanson, M. S. (1996a). Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24 , 4407-4414.

Timchenko, L. T., Tapscott, S. J., Cooper, T. A., and Monckton, D. G. (2002). Myotonic dystrophy: discussion of molecular basis. Adv Exp Med Biol 516 , 27-45.

Timchenko, L. T., Timchenko, N. A., Caskey, C. T., and Roberts, R. (1996b). Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 5 , 115-121.

Timchenko, N. A., Cai, Z. J., Welm, A. L., Reddy, S. Ashizawa, T., and Timchenko, L. T. (2001a). RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 276 , 7820-7826.

Timchenko, N. A., Iakova, P., Cai, Z. J., Smith J. R., and Timchenko, L. T. (2001b). Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 21 , 6927-6938.

Timchenko, N. A., Welm, A. L., Lu, X., and Timchenko, L. T. (1999). CUG repeat binding protein (CUGBP1) interacts with the 5’ region of C/EBP beta mRNA and regulates translation of C/EBP beta isoforms. Nucleic Acids Res 27 , 4517-4525.

van den Broek, W. J., Nelen, M. R., Wansink, D. G., coerwinkel, M. M., te Riele, H., Groenen, P. J., and Wieringa, B. (2002). Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-out mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 11 , 191-198.

Wang, J., Pegoraro, E., Menagazzo, E., Gennarelli, M., Hoop, R. C., Angelini, C., and Hoffman, E. P. (1995). Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 4 , 599-606.

Wang, Y. H., Amirhaeri, S., Kang, S., Wells, R. D., and Griffith, J. D. (1994). Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265 , 669-671.

Wansink, D. G., van Herpen, R. E., Coerwinkel-Drissen, M. M., Groenen, P. J., Hemmings, B. A., and Wieringa, B. (2003). Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization. Mol Cell Biol 23 , 5489-5501.

Wells, R. D. (1996). Molecular basis of genetic instability of triplet repeats. J Biol Chem 271 , 2875-2878.

Westerlaken, J. H., van der Zee, C. E., Peters, W., and Wieringa, B. (2003). The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas. Brain Res 971 , 116-127.

Wibley J., Deed R., Jasiok M., Douglas K. and Norton J. (1996). A homology model of the Id-3 helix-loop-helix domain as a basis for structure-function predictions. Biochim Biophys Acta. 1294 , 138-146.

Wright, W. E., Sassoon, D. A., and Lin, V. K. (1989). Myogenin, a factor regulating myogenesis, has a domain homologous to MyoD. Cell 56 , 607-617.

Zatz, M., Passos-Bueno, M. R., Cerqueira, A., Marie, S. K., Vainzof, M., and Pavanello, R. C. (1995). Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 4 , 401-406.

© Daniel Beaulieu, 2005