-
1
-
-
0026566108
-
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., McCURRACH M. E., HARLEY H. G., BUCKLER A. J., CHURCH D., ABURATANI H., HUNTER H., STANTON V. P., THIRION J. P., HUDSON T., SOHN R., ZEMELMAN B., SNELL R. G., RUNDLE S. A., CROW S., DAVIES J., SHELBOURNE P., BUXTON J., JONES C., JUVONEN V., JHONSON K., HARPER P. S., SHAW D. J. and HOUSMAN D. E. (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 68, 799-808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, H.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Jhonson, K.21
Harper, P.S.22
Shaw, D.J.23
Housman, D.E.24
more..
-
2
-
-
0026596610
-
Triplet repeat mutations in human disease
-
CASKEY C. T., PIZZUTI A., Fu Y. H., FENWICK R. G. and NELSON D. L (1992) Triplet repeat mutations in human disease. Science 256, 784-789
-
(1992)
Science
, vol.256
, pp. 784-789
-
-
Caskey, C.T.1
Pizzuti, A.2
Fu, Y.H.3
Fenwick, R.G.4
Nelson, D.L.5
-
3
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu Y. H., PIZZUTI A., FENWICK R. G., KING J., RAJNARAYAN S., DUNNE P. W., DUBEL J., NASSER G. A., ASHIZAWA T., DE JONG P., WIERINGA B., KORNELUK R. G., PERRYMAN M. B., EPSTEIN H. F. and CASKEY C. T. (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick, R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
Wieringa, B.11
Korneluk, R.G.12
Perryman, M.B.13
Epstein, H.F.14
Caskey, C.T.15
-
5
-
-
0026895235
-
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
-
JANSEN G., MAHADEVAN M., AMEMIYA C., WORMSKAMP N., SEGERS B., HENDRIKS W., O'HOY K., BAIRD S., SABOURIN L., LENNON G., JAP P. L., IKES D., COERWINKEL M., HOFKER M., CARRANO A. V., DE JONG P. J., KORNELUK R. G. and WIERINGA B. (1992) Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet. 1, 261-266
-
(1992)
Nature Genet.
, vol.1
, pp. 261-266
-
-
Jansen, G.1
Mahadevan, M.2
Amemiya, C.3
Wormskamp, N.4
Segers, B.5
Hendriks, W.6
O'Hoy, K.7
Baird, S.8
Sabourin, L.9
Lennon, G.10
Jap, P.L.11
Ikes, D.12
Coerwinkel, M.13
Hofker, M.14
Carrano, A.V.15
De Jong, P.J.16
Korneluk, R.G.17
Wieringa, B.18
-
6
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
LAEMMLI U. K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
7
-
-
0027288790
-
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
-
MAHADEVAN M. S., AMEMIYA C. T., JANSEN G., SABOURIN L., BAIRD S., NEVILLE C. E., WORMSKAMP N., SEGERS B., LAMERDIN J., DE JONG P., WIERINGA B. and KORNELUK R. G. (1993) Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum. Mol. Genet. 2, 299-304
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 299-304
-
-
Mahadevan, M.S.1
Amemiya, C.T.2
Jansen, G.3
Sabourin, L.4
Baird, S.5
Neville, C.E.6
Wormskamp, N.7
Segers, B.8
Lamerdin, J.9
De Jong, P.10
Wieringa, B.11
Korneluk, R.G.12
-
8
-
-
0028946277
-
Modulation of skeletal muscle sodium channels by human myotonin protein kinase
-
MOUNSEY J. P., Xu P., JHON J. E., HORNE L. T., GILBERT J., ROSES A. D. and MOORMAN J. R. (1995) Modulation of skeletal muscle sodium channels by human myotonin protein kinase. J. Clin. Invest. 95, 2379-2384
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 2379-2384
-
-
Mounsey, J.P.1
Xu, P.2
Jhon, J.E.3
Horne, L.T.4
Gilbert, J.5
Roses, A.D.6
Moorman, J.R.7
-
9
-
-
0030575949
-
Immunocytochemical localization of a full-length myotonin protein kinase in rat L6 myoblasts
-
SAITOH N., SASAGAWA N., KOIKE H., SHIMOKAWA M., SORIMACHI H., ISHIURA S. and SUZUKI K. (1996) Immunocytochemical localization of a full-length myotonin protein kinase in rat L6 myoblasts. Neurosci. Lett. 218, 214-216
-
(1996)
Neurosci. Lett.
, vol.218
, pp. 214-216
-
-
Saitoh, N.1
Sasagawa, N.2
Koike, H.3
Shimokawa, M.4
Sorimachi, H.5
Ishiura, S.6
Suzuki, K.7
-
10
-
-
0028019032
-
Identification and localization of the myotonic dystrophy gene product in skeletal muscles
-
SALVATORI S., BRIAL D., FURLAN S. and MARIN O. (1994) Identification and localization of the myotonic dystrophy gene product in skeletal muscles. Biochem. Biophys. Res. Commun. 203, 1365-1370
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.203
, pp. 1365-1370
-
-
Salvatori, S.1
Brial, D.2
Furlan, S.3
Marin, O.4
-
11
-
-
0029926670
-
Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells
-
SASAGAWA N., SAJTOH N., SHIMOKAWA M., SORIMACHI H., MARUYAMA K., ARAHATA K., ISHIURA S. and SUZUKI K. (1996) Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells. Biochim. Biophys. Acta 1315, 112-116
-
(1996)
Biochim. Biophys. Acta
, vol.1315
, pp. 112-116
-
-
Sasagawa, N.1
Sajtoh, N.2
Shimokawa, M.3
Sorimachi, H.4
Maruyama, K.5
Arahata, K.6
Ishiura, S.7
Suzuki, K.8
-
12
-
-
0027982523
-
Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells
-
SASAGAWA N., SORIMACHI H., MARUYAMA K., ARAHATA K., ISHIURA S. and SUZUKI K. (1994) Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells. FEBS Lett. 351, 22-26
-
(1994)
FEBS Lett.
, vol.351
, pp. 22-26
-
-
Sasagawa, N.1
Sorimachi, H.2
Maruyama, K.3
Arahata, K.4
Ishiura, S.5
Suzuki, K.6
-
13
-
-
0027729047
-
Genomic organization and transcriptional units at the myotonic dystrophy locus
-
SHAW D. J., McCURRACH M., RUNDLE S. A., HARLEY H. G., CROW S. R., SOHN R, THIRION J. P., HAMSHERE M. G., BUCKLER A. J., HARPER P. S., HOUSMAN D. E. and BROOK J. D. (1993) Genomic organization and transcriptional units at the myotonic dystrophy locus. Genomics 18, 673-679
-
(1993)
Genomics
, vol.18
, pp. 673-679
-
-
Shaw, D.J.1
McCurrach, M.2
Rundle, S.A.3
Harley, H.G.4
Crow, S.R.5
Sohn, R.6
Thirion, J.P.7
Hamshere, M.G.8
Buckler, A.J.9
Harper, P.S.10
Housman, D.E.11
Brook, J.D.12
-
14
-
-
0030945034
-
Novel isoform of myotonin protein kinase: Gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle
-
SHIMOKAWA M., ISHIURA S., KAMEDA N., YAMAMOTO M., SASAGAWA N., SAITOH N., SORIMACHI H., UEDA H., OHNO S., SUZUKI K. and KOBAYASHI T. (1997) Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. Amer. J. Pathol. 150, 1285-1295
-
(1997)
Amer. J. Pathol.
, vol.150
, pp. 1285-1295
-
-
Shimokawa, M.1
Ishiura, S.2
Kameda, N.3
Yamamoto, M.4
Sasagawa, N.5
Saitoh, N.6
Sorimachi, H.7
Ueda, H.8
Ohno, S.9
Suzuki, K.10
Kobayashi, T.11
-
15
-
-
0029047071
-
Full-length myotonin protein kinase (72 kDa) displays serine kinase activity
-
TIMCHENKO L., NASTAINCZYK W., SCHNEIDER T., PATEL B., HOFMANN F. and CASKEY T. (1995) Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc. Natl. Acad. Sci. USA 92, 5366-5370
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 5366-5370
-
-
Timchenko, L.1
Nastainczyk, W.2
Schneider, T.3
Patel, B.4
Hofmann, F.5
Caskey, T.6
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