메뉴 건너뛰기




Volumn 14, Issue 3, 1996, Pages 285-291

Cloning of the gene for spinooerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA;

EID: 0030294345     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1196-285     Document Type: Article
Times cited : (795)

References (61)
  • 1
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'
    • Harding, A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. Brain 105, 1-28 (1982).
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 2
    • 0007949225 scopus 로고
    • The spinocerebellar degenerations
    • Zoghbi, H.Y. The spinocerebellar degenerations. Curr Neurol. 11, 121-144 (1991).
    • (1991) Curr Neurol. , vol.11 , pp. 121-144
    • Zoghbi, H.Y.1
  • 3
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
    • Orozco, G., Nodarse, A., Cordoves, R. & Auburger, G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40, 1369-1375 (1990).
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco, G.1    Nodarse, A.2    Cordoves, R.3    Auburger, G.4
  • 4
    • 0029134871 scopus 로고
    • Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
    • Ranum, L.P. et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am. J. Hum. Genet. 57, 603-608 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 603-608
    • Ranum, L.P.1
  • 5
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-228 (1995).
    • (1995) Nature Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1
  • 6
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1
  • 7
    • 0029045392 scopus 로고
    • The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.l
    • Allotey, R. et al. The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.l. Am. J. Hum. Genet. 57, 185-189 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 185-189
    • Allotey, R.1
  • 8
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1
  • 9
    • 0027435939 scopus 로고
    • n repeat in sporadic Huntington's disease
    • n repeat in sporadic Huntington's disease. Nature Genet. 5, 168-173 (1993).
    • (1993) Nature Genet , vol.5 , pp. 168-173
    • Myers, R.H.1
  • 10
    • 26544469298 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I: Clinical feature and magnetic resonance imaging in families with SCA1, SCA2 and SCA3
    • (in the press)
    • Bürk, K. et al. Autosomal dominant cerebellar ataxia type I: Clinical feature and magnetic resonance imaging in families with SCA1, SCA2 and SCA3. Brain (in the press).
    • Brain
    • Bürk, K.1
  • 11
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
    • Benomar, A. et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet. 10, 84-88 (1995).
    • (1995) Nature Genet , vol.10 , pp. 84-88
    • Benomar, A.1
  • 12
    • 0029117960 scopus 로고
    • Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
    • Holmberg, M. et al. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum. Mol. Genet. 4, 1441-1445 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1441-1445
    • Holmberg, M.1
  • 13
    • 0029968460 scopus 로고    scopus 로고
    • Trinucleotide repeats in neurogenetic disoraers
    • Paulson, H.L. & Fischbeck, K.H. Trinucleotide repeats in neurogenetic disoraers. Annu. Rev. Neurosci. 19, 79-107 (1996)
    • (1996) Annu. Rev. Neurosci. , vol.19 , pp. 79-107
    • Paulson, H.L.1    Fischbeck, K.H.2
  • 14
    • 0029130324 scopus 로고
    • n repeats in parent-offspring pairs with Huntington disease
    • n repeats in parent-offspring pairs with Huntington disease. Am. J. Hum. Genet. 57, 593-602 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 593-602
    • Ranen, N.G.1
  • 15
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer, B. et al. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am. J. Hum. Genet. 57, 343-350 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 343-350
    • Kremer, B.1
  • 16
    • 0027240431 scopus 로고
    • Trinucleotide repeat length instability and age of onset in Huntington's disease
    • Duyao, M.P. et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4, 387-392 (1993).
    • (1993) Nature Genet , vol.4 , pp. 387-392
    • Duyao, M.P.1
  • 17
    • 0028234720 scopus 로고
    • Instability of CAG repeats in Huntington's disease : Relation of parental transmission and age of onset
    • Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease : relation of parental transmission and age of onset. J. Med. Genet. 31, 377-382 (1994).
    • (1994) J. Med. Genet. , vol.31 , pp. 377-382
    • Trottier, Y.1    Biancalana, V.2    Mandel, J.L.3
  • 18
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung, M.Y. et al. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet. 5, 254-258 (1993)
    • (1993) Nature Genet , vol.5 , pp. 254-258
    • Chung, M.Y.1
  • 19
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • Ikeuchi, T. et al. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann. Neurol. 37, 769-775 (1995).
    • (1995) Ann. Neurol. , vol.37 , pp. 769-775
    • Ikeuchi, T.1
  • 20
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2, 301-304 (1992).
    • (1992) Nature Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1
  • 21
    • 0026894334 scopus 로고
    • Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
    • Biancalana, V. et al. Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Hum. Mol. Genet. 1, 255-258 (1992).
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 255-258
    • Biancalana, V.1
  • 22
    • 2442761245 scopus 로고    scopus 로고
    • Intergenerational instability of the CAG repeat of the gene for Machado-Joseph (MJD1) is affected by the genotype of normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
    • Igaraschi, S. et al. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph (MJD1) is affected by the genotype of normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5, 923-932 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 923-932
    • Igaraschi, S.1
  • 23
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
    • Dürr, A. et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann. Neurol. 39, 490-499 (1996).
    • (1996) Ann. Neurol. , vol.39 , pp. 490-499
    • Dürr, A.1
  • 24
    • 0027300219 scopus 로고
    • Genes with triplets: Candidate mediators of neuropsychiatric disorders
    • Ross, C.A., McInnis, M.G., Margolis, R.L. & Li, S.-H. Genes with triplets: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 16, 254-260 (1993).
    • (1993) Trends Neurosci. , vol.16 , pp. 254-260
    • Ross, C.A.1    McInnis, M.G.2    Margolis, R.L.3    Li, S.-H.4
  • 25
    • 0028178522 scopus 로고
    • The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters
    • Lescure, A. et al. The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters. EMBO J. 13, 1166-1175 (1995).
    • (1995) EMBO J. , vol.13 , pp. 1166-1175
    • Lescure, A.1
  • 26
    • 0028972448 scopus 로고
    • Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
    • Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406 (1995).
    • (1995) Nature , vol.378 , pp. 403-406
    • Trottier, Y.1
  • 27
    • 0029611008 scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
    • Dürr, A. et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118, 1573-1581 (1995).
    • (1995) Brain , vol.118 , pp. 1573-1581
    • Dürr, A.1
  • 28
    • 0028025275 scopus 로고
    • Clinical and genetic analysis of a tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
    • Belal, S. et al. Clinical and genetic analysis of a tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 44, 1423-1426 (1994).
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1
  • 29
    • 0028138380 scopus 로고
    • Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)
    • Ihara, T. et al. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jap. J. Hum. Genet. 39, 305-313 (1994).
    • (1994) Jap. J. Hum. Genet. , vol.39 , pp. 305-313
    • Ihara, T.1
  • 30
    • 0029148926 scopus 로고
    • Localization of the candidate gene D-amino acid oxidase outside the refined l-cM region of spinocerebellar ataxia 2
    • Gispert, S. et al. Localization of the candidate gene D-amino acid oxidase outside the refined l-cM region of spinocerebellar ataxia 2. Am. J. Hum. Genet. 57, 972-975 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 972-975
    • Gispert, S.1
  • 31
    • 13344268998 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families
    • Lezin, A. et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. Hum. Genet. 97, 671-676 (1996).
    • (1996) Hum. Genet. , vol.97 , pp. 671-676
    • Lezin, A.1
  • 32
    • 0028239595 scopus 로고
    • Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor
    • Chiba, H., Muramatsu, M., Nomoto, A. & Kato, H. Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor. Nucl. Acids Res. 22, 1815-1820 (1994).
    • (1994) Nucl. Acids Res. , vol.22 , pp. 1815-1820
    • Chiba, H.1    Muramatsu, M.2    Nomoto, A.3    Kato, H.4
  • 33
    • 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. & Wells, R. 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).
    • (1995) Nature Genet , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.4
  • 34
    • 0029653616 scopus 로고
    • A second-generation YAC contig map of human chromosome 12
    • Krauter, K. et al. A second-generation YAC contig map of human chromosome 12. Nature 377, 321-333 (1995).
    • (1995) Nature , vol.377 , pp. 321-333
    • Krauter, K.1
  • 35
    • 0023665902 scopus 로고
    • An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
    • Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl Adds Res. 15, 8125-8148 (1987).
    • (1987) Nucl Adds Res. , vol.15 , pp. 8125-8148
    • Kozak, M.1
  • 36
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
    • Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88, 11261-11265 (1991).
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.C.1    Mural, R.J.2
  • 37
  • 38
    • 0029912537 scopus 로고    scopus 로고
    • Development of a screening set for new (CAG/CTG)n dynamic mutations
    • Gastier, J.M. et al. Development of a screening set for new (CAG/CTG)n dynamic mutations. Genomics 32, 75-85 (1996).
    • (1996) Genomics , vol.32 , pp. 75-85
    • Gastier, J.M.1
  • 39
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
    • Li, S.H., McInnis, M.G., Margolis, R.L., Antonarakis, S.E. & Ross, C.A. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16, 572-579 (1993).
    • (1993) Genomics , vol.16 , pp. 572-579
    • Li, S.H.1    McInnis, M.G.2    Margolis, R.L.3    Antonarakis, S.E.4    Ross, C.A.5
  • 40
    • 85066231685 scopus 로고
    • Human genes containing polymorphic trinucleotide repeats [published erratum appears in Nature Genet. 3, 273 (1993)]
    • Riggins, G.J. et al. Human genes containing polymorphic trinucleotide repeats [published erratum appears in Nature Genet. 3, 273 (1993)]. Nature Genet 2, 186-191 (1992).
    • (1992) Nature Genet , vol.2 , pp. 186-191
    • Riggins, G.J.1
  • 41
    • 8944262197 scopus 로고    scopus 로고
    • Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders
    • Neri, C. et al. Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders. Hum. Mol. Genet. 5, 1001-1009 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1001-1009
    • Neri, C.1
  • 42
    • 0029089172 scopus 로고
    • When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
    • Ross, C. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493-496 (1995).
    • (1995) Neuron , vol.15 , pp. 493-496
    • Ross, C.1
  • 43
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein, D.C. et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59, 16-22 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1
  • 44
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's disease mutation : The sensitivity and specificity of measuring CAG repeats
    • Kremer, B. et al. A worldwide study of the Huntington's disease mutation : the sensitivity and specificity of measuring CAG repeats. N. Engl. J. Med. 330, 1402-1406 (1994).
    • (1994) N. Engl. J. Med. , vol.330 , pp. 1402-1406
    • Kremer, B.1
  • 45
    • 0029042742 scopus 로고
    • Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
    • Maruyama, H. et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease Hum. Mol. Genet. 4, 807-812 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 807-812
    • Maruyama, H.1
  • 46
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong, S.S. et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10, 344-350 (1995).
    • (1995) Nature Genet , vol.10 , pp. 344-350
    • Chong, S.S.1
  • 47
    • 0027176828 scopus 로고
    • Association of fragile X syndrome with delayed replication of the FMR1 gene
    • Hansen, R.S., Canfield, T.K., Lamb, MM. Gartler, S.M. & Laird, C.D. Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 73, 1403-1409 (1993).
    • (1993) Cell , vol.73 , pp. 1403-1409
    • Hansen, R.S.1    Canfield, T.K.2    Lamb, M.M.3    Gartler, S.M.4    Laird, C.D.5
  • 48
    • 0028868919 scopus 로고
    • Huntington's disease: CAG genetics expands neurobiology
    • Gusella, J.F. & MacDonald, M.E. Huntington's disease: CAG genetics expands neurobiology. Curr. Opin. Neurobiol. 5, 656-662 (1995).
    • (1995) Curr. Opin. Neurobiol. , vol.5 , pp. 656-662
    • Gusella, J.F.1    MacDonald, M.E.2
  • 49
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset
    • Ranum, L.P. et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55, 244-252 (1994).
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 244-252
    • Ranum, L.P.1
  • 50
    • 0028291079 scopus 로고
    • The gene for the TATA-binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27
    • Imberl, G., Trottier, Y., Beckman, J. & Mandel, J.-L. The gene for the TATA-binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics 21, 667-668 (1994).
    • (1994) Genomics , vol.21 , pp. 667-668
    • Imberl, G.1    Trottier, Y.2    Beckman, J.3    Mandel, J.-L.4
  • 51
    • 0030058208 scopus 로고    scopus 로고
    • Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
    • Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S. & Kakizuka, A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202 (1996).
    • (1996) Nature Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 52
    • 0027180211 scopus 로고
    • Anticipation in spinocerebellar ataxia type 2
    • Pulst, S.-M-, Nechiporuk, A. & Starkman, S. Anticipation in spinocerebellar ataxia type 2. Nature Genet. 5, 8-10 (1993).
    • (1993) Nature Genet , vol.5 , pp. 8-10
    • Pulst, S.-M.1    Nechiporuk, A.2    Starkman, S.3
  • 53
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR1 gene
    • Eichler, E.E. et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet. 8, 88-94 (1994).
    • (1994) Nature Genet , vol.8 , pp. 88-94
    • Eichler, E.E.1
  • 54
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeal could result in predisposing normal alleles
    • Kunst, C.B. & Warren, S.T. Cryptic and polar variation of the fragile X repeal could result in predisposing normal alleles Cell 77, 853-861 (1994).
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 55
    • 0028831608 scopus 로고
    • Autoregulatory frameshifting in decoding mammalian ornithine decarboxylase antizyme
    • Matsufuji, S. et al. Autoregulatory frameshifting in decoding mammalian ornithine decarboxylase antizyme. Cell 80, 51-60 (1995).
    • (1995) Cell , vol.80 , pp. 51-60
    • Matsufuji, S.1
  • 56
    • 0026667889 scopus 로고
    • Recoding: Reprogrammed genetic decoding
    • Gesteland, R.F., Weiss, R.B. & Atkins, J.F. Recoding: reprogrammed genetic decoding. Science 257, 1640-1641 (1992).
    • (1992) Science , vol.257 , pp. 1640-1641
    • Gesteland, R.F.1    Weiss, R.B.2    Atkins, J.F.3
  • 57
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst, S.M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269-276 (1996).
    • (1996) Nature Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1
  • 58
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the gene for spinocerebellar ataxia type 2, SCA2, using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sampei, K. et al. Identification of the gene for spinocerebellar ataxia type 2, SCA2, using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277-284 (1996).
    • (1996) Nature Genet , vol.14 , pp. 277-284
    • Sampei, K.1
  • 59
    • 0027265596 scopus 로고
    • Human and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG repeat
    • Ashley, C.T. et al. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG repeat. Nature Genet. 4, 244-251 (1993).
    • (1993) Nature Genet , vol.4 , pp. 244-251
    • Ashley, C.T.1
  • 60
    • 0028031125 scopus 로고
    • Guidelines for the molecular genetics predictive test in Huntington's disease
    • Broholm, J. et al Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44, 1533-1536 (1994).
    • (1994) Neurology , vol.44 , pp. 1533-1536
    • Broholm, J.1
  • 61
    • 0029153298 scopus 로고
    • Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, Stral (mouse LERK-2/Eplg2)
    • Bouillet, P. et al. Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, Stral (mouse LERK-2/Eplg2). Dev. Biol. 170, 420-433 (1995).
    • (1995) Dev. Biol. , vol.170 , pp. 420-433
    • Bouillet, P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.