메뉴 건너뛰기




Volumn 36, Issue 1, 1996, Pages 47-53

Instability of the expanded (CTG)(n) repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE; TRINUCLEOTIDE;

EID: 0030586908     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0424     Document Type: Article
Times cited : (36)

References (24)
  • 1
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K., and Edström, L. (1993). Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 2: 1397-1400.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edström, L.6
  • 2
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa, T., Dubel, J. R., and Harati, Y. (1993). Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43: 2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 5
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung, M.-Y., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y., and Orr, H. T. (1993). Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5: 254-258.
    • (1993) Nature Genet. , vol.5 , pp. 254-258
    • Chung, M.-Y.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 9
    • 0029035379 scopus 로고
    • Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. Coli
    • 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. Nature Genet. 10: 213-218.
    • (1995) Nature Genet. , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 10
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst, C. B., and Warren, S. T. (1994). Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 13
    • 0027416569 scopus 로고
    • Characterization 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). Characterization 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
  • 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. 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.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 16
    • 0022553788 scopus 로고
    • A routine method for the establishment of permanent growing lymphoblastoid cell lines
    • Neitzel, H. (1986). A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet. 73: 320-326.
    • (1986) Hum. Genet. , vol.73 , pp. 320-326
    • Neitzel, H.1
  • 17
    • 0024262193 scopus 로고
    • Recombination between repeated genes in microorganisms
    • Petes, T. D., and Hill, C. W. (1988). Recombination between repeated genes in microorganisms. Annu. Rev. Genet. 22: 147-168.
    • (1988) Annu. Rev. Genet. , vol.22 , pp. 147-168
    • Petes, T.D.1    Hill, C.W.2
  • 18
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards, R. I., and Sutherland, G. R. (1994). Simple repeat DNA is not replicated simply. Nature Genet. 6: 114-116.
    • (1994) Nature Genet. , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 19
    • 0027306173 scopus 로고
    • Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
    • Strand, M., Prolla, T. A., Liskay, R. M., and Petes, T. D. (1993). Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365: 274-276.
    • (1993) Nature , vol.365 , pp. 274-276
    • Strand, M.1    Prolla, T.A.2    Liskay, R.M.3    Petes, T.D.4
  • 20
    • 0028918009 scopus 로고
    • Minimal somatic instability of ctg repeat in congenital myotonic dystrophy
    • Tachi, N., Ohya, K., Chiba, S., Sato, T., and Kikuchi, K. (1995). Minimal somatic instability of ctg repeat in congenital myotonic dystrophy. Pediatr. Neurol. 12: 81-83.
    • (1995) Pediatr. Neurol. , vol.12 , pp. 81-83
    • Tachi, N.1    Ohya, K.2    Chiba, S.3    Sato, T.4    Kikuchi, K.5
  • 21
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton, C. A., Johnson, K., and Moxley, R. T. (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.A.1    Johnson, K.2    Moxley, R.T.3
  • 22
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong, L. C., Ashizawa, T., Monckton, D. G., Caskey, C. T., and Richards, C. S. (1995). Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 56: 114-122.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 114-122
    • Wong, L.C.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 24
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
    • Wöhrle, D., Kennerknech, I., Wolf, M., Enders, H., Schwemmle, S., and Steinbach, P. (1995). Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet. 4: 1147-1153.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1147-1153
    • Wöhrle, D.1    Kennerknech, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.