메뉴 건너뛰기




Volumn , Issue , 2006, Pages 563-583

Transgenic Mouse Models of Unstable Trinucleotide Repeats: Toward an Understanding of Disease-Associated Repoeat Size Mutation

Author keywords

[No Author keywords available]

Indexed keywords


EID: 34247634326     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012369462-1/50037-5     Document Type: Chapter
Times cited : (11)

References (134)
  • 2
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada A.R., Wilson E.M., Lubahan D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • la Spada, A.R.1    Wilson, E.M.2    Lubahan, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 7
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Hungtington's Disease Research Collaborative Group
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983. Hungtington's Disease Research Collaborative Group.
    • (1993) Cell , vol.72 , pp. 971-983
  • 10
    • 0027122152 scopus 로고
    • 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 K., Stanton V.P., Thirion J.P., Hudson T., et al. 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 1992, 69:385.
    • (1992) Cell , vol.69 , pp. 385
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 13
    • 0034329159 scopus 로고    scopus 로고
    • Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
    • Gusella J.F., MacDonald M.E. Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease. Nat. Rev. Neurosci. 2000, 1:109-115.
    • (2000) Nat. Rev. Neurosci , vol.1 , pp. 109-115
    • Gusella, J.F.1    MacDonald, M.E.2
  • 15
    • 0030841672 scopus 로고    scopus 로고
    • Expansion of a CUG trinucleotide repeat in the 3? untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
    • Davis B.M., McCurrach M.E., Taneja K.L., Singer R.H., Housman D.E. 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. USA 1997, 94:7388-7393.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 7388-7393
    • Davis, B.M.1    McCurrach, M.E.2    Taneja, K.L.3    Singer, R.H.4    Housman, D.E.5
  • 16
    • 0033120042 scopus 로고    scopus 로고
    • Sticky DNA: Self-association properties of long GAA TTC repeates in R. R. Y triplex structures from Friedreich's ataxia
    • Sakamoto N., Chastain P.D., Parniewski P., Ohshima K., Pandolfo M., Griffith J.D., Wells R.D. Sticky DNA: Self-association properties of long GAA TTC repeates in R. R. Y triplex structures from Friedreich's ataxia. Mol. Cell 1999, 3:465-475.
    • (1999) Mol. Cell , vol.3 , pp. 465-475
    • Sakamoto, N.1    Chastain, P.D.2    Parniewski, P.3    Ohshima, K.4    Pandolfo, M.5    Griffith, J.D.6    Wells, R.D.7
  • 17
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet. 1997, 16:403-406.
    • (1997) Nat. Genet , vol.16 , pp. 403-406
    • Klesert, T.R.1    Otten, A.D.2    Bird, T.D.3    Tapscott, S.J.4
  • 18
    • 0034639857 scopus 로고    scopus 로고
    • Understanding the molecular basis of fragile X syndrome
    • Jin P., Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum. Mol. Genet. 2000, 9:901-908.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 901-908
    • Jin, P.1    Warren, S.T.2
  • 20
    • 0035475642 scopus 로고    scopus 로고
    • Dynamic mutations: A decade of unstable expanded repeats in human genetic disease
    • Richards R.I. Dynamic mutations: A decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet. 2001, 10:2187-2194.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 2187-2194
    • Richards, R.I.1
  • 21
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: Unraveling trinucleotide repeat diseases
    • Cummings C.J., Zoghbi H.Y. Fourteen and counting: Unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 2000, 9:909-916.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 22
    • 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., Ashizawa T., Caskey C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Hum. Mol. Genet. 1995, 4:1-8.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.2    Ashizawa, T.3    Caskey, C.T.4
  • 23
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability
    • Wörhle D., Kennerknecht I., Wolf M., Enders H., Schwemmle S., Steinbach P. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet. 1995, 4:1147-1153.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1147-1153
    • Wörhle, D.1    Kennerknecht, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6
  • 24
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • Richards R.I., Sutherland G.R. Dynamic mutations: A new class of mutations causing human disease. Cell 1992, 70:709-712.
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 25
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert G., Kretz C., Johnson K., Mandel J.L. Origin of the expansion mutation in myotonic dystrophy. Nat. Genet. 1993, 4:72-76.
    • (1993) Nat. Genet , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.L.4
  • 26
    • 0026885037 scopus 로고
    • Anticipation in myotonic dystrophy: New light on an old problem
    • Harper P.S., Harley H.G., Reardon W., Shaw D.J. Anticipation in myotonic dystrophy: New light on an old problem. Am. J. Hum. Genet. 1992, 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
  • 31
    • 0027745692 scopus 로고
    • Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
    • Zuhlke C., Riess O., Bockel B., Lange H., Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum. Mol. Genet. 1993, 2:2063-2067.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 2063-2067
    • Zuhlke, C.1    Riess, O.2    Bockel, B.3    Lange, H.4    Thies, U.5
  • 32
    • 0031739916 scopus 로고    scopus 로고
    • Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
    • De Michele G., Cavalcanti F., Criscuolo C., Pianese L., Monticelli A., Filla A., Cocozza S. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum. Mol. Genet. 1998, 7:1901-1906.
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1901-1906
    • de Michele, G.1    Cavalcanti, F.2    Criscuolo, C.3    Pianese, L.4    Monticelli, A.5    Filla, A.6    Cocozza, S.7
  • 36
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
    • Jansen G., Willems P., Coerwinkel M., Nillesen W., Smeets H., Vits L., Howeler C., Brunner H., Wieringa B. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet. 1994, 54:575-585.
    • (1994) Am. J. Hum. Genet , vol.54 , pp. 575-585
    • Jansen, G.1    Willems, P.2    Coerwinkel, M.3    Nillesen, W.4    Smeets, H.5    Vits, L.6    Howeler, C.7    Brunner, H.8    Wieringa, B.9
  • 40
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Hungtinton disease pathogenesis
    • Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Hungtinton disease pathogenesis. Hum. Mol. Genet. 2003, 12:3359-3367.
    • (2003) Hum. Mol. Genet , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.M.3    Craven, L.4    Detloff, P.J.5    Ennis, M.6    Shelbourne, P.F.7
  • 41
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong S.S., McCall A.E., Cota J., Subramony S.H., Orr H.T., Hughes M.R., Zoghbi H.Y. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 1995, 10:344-350.
    • (1995) Nat. Genet , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 42
    • 0033109233 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG trinucelotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD)
    • Tanaka F., Ito Y., Sobue G. Somatic mosaicism of expanded CAG trinucelotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD). Nippon Rinsho 1999, 57:838-842.
    • (1999) Nippon Rinsho , vol.57 , pp. 838-842
    • Tanaka, F.1    Ito, Y.2    Sobue, G.3
  • 43
    • 0032712586 scopus 로고    scopus 로고
    • Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
    • Monckton D.G., Cayuela M.L., Gould F.K., Brock G.J., Silva R., Ashizawa T. Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum. Mol. Genet. 1999, 8:2473-2478.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 2473-2478
    • Monckton, D.G.1    Cayuela, M.L.2    Gould, F.K.3    Brock, G.J.4    Silva, R.5    Ashizawa, T.6
  • 44
    • 0029988921 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability
    • Takano H., Onodera O., Takahashi H., Igarashi S., Yamada M., Oyake M., Ikeuchi T., Koide R., Tanaka H., Iwabuchi K., Tsuji S. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet. 1996, 58:1212-1222.
    • (1996) Am. J. Hum. Genet , vol.58 , pp. 1212-1222
    • Takano, H.1    Onodera, O.2    Takahashi, H.3    Igarashi, S.4    Yamada, M.5    Oyake, M.6    Ikeuchi, T.7    Koide, R.8    Tanaka, H.9    Iwabuchi, K.10    Tsuji, S.11
  • 46
    • 0030044128 scopus 로고    scopus 로고
    • Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-palli-doluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy
    • Tanaka F., Sobue G., Doyu M., Ito Y., Yamamoto M., Shimada N., Yamamoto K., Riku S., Hshizume Y., Mitsuma T. Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-palli-doluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J. Neurol. Sci. 1996, 135:43-50.
    • (1996) J. Neurol. Sci , vol.135 , pp. 43-50
    • Tanaka, F.1    Sobue, G.2    Doyu, M.3    Ito, Y.4    Yamamoto, M.5    Shimada, N.6    Yamamoto, K.7    Riku, S.8    Hshizume, Y.9    Mitsuma, T.10
  • 49
    • 0032739342 scopus 로고    scopus 로고
    • Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequences
    • Bidichandani S.I., Purandare S.M., Taylor E.E., Gumin G., Machkhas H., Harati Y., Gibbs R.A., Ashizawa T., Patel P.I. Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequences. Hum. Mol. Genet. 1999, 8:2425-2436.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 2425-2436
    • Bidichandani, S.I.1    Purandare, S.M.2    Taylor, E.E.3    Gumin, G.4    Machkhas, H.5    Harati, Y.6    Gibbs, R.A.7    Ashizawa, T.8    Patel, P.I.9
  • 50
    • 0035135490 scopus 로고    scopus 로고
    • Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes
    • Hellenbroich Y., Schwinger E., Zuhlke C. Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes. Acta Neurol. Scand. 2001, 103:188-192.
    • (2001) Acta Neurol. Scand , vol.103 , pp. 188-192
    • Hellenbroich, Y.1    Schwinger, E.2    Zuhlke, C.3
  • 51
    • 0030815628 scopus 로고    scopus 로고
    • Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system
    • Montermini L., Kish S.J., Jiralerspong S., Lamarche J.B., Pandolfo M. Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 1997, 49:606-610.
    • (1997) Neurology , vol.49 , pp. 606-610
    • Montermini, L.1    Kish, S.J.2    Jiralerspong, S.3    Lamarche, J.B.4    Pandolfo, M.5
  • 52
    • 0036713922 scopus 로고    scopus 로고
    • The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions
    • Sharma R., Bhatti S., Gomez M., Clark R.M., Murray C., Ashizawa T., Bidichandani S.I. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum. Mol. Genet. 2002, 11:2175-2187.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 2175-2187
    • Sharma, R.1    Bhatti, S.2    Gomez, M.3    Clark, R.M.4    Murray, C.5    Ashizawa, T.6    Bidichandani, S.I.7
  • 53
    • 0026457624 scopus 로고
    • The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
    • Hunter A., Tsilfidis C., Mettler G., Jacob P., Mahadevan M., Surh L., Korneluk R. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J. Med. Genet. 1992, 29:774-779.
    • (1992) J. Med. Genet , vol.29 , pp. 774-779
    • Hunter, A.1    Tsilfidis, C.2    Mettler, G.3    Jacob, P.4    Mahadevan, M.5    Surh, L.6    Korneluk, R.7
  • 54
    • 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., Edstrom L. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet. 1993, 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    Edstrom, L.6
  • 55
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T., Dubel J.R., Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993, 43:2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 56
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton C.A., Johnson K., Moxley R.T. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol. 1994, 35:104-107.
    • (1994) Ann. Neurol , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.2    Moxley, R.T.3
  • 58
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong L.J., Ashizawa T., Monckton D.G., Caskey C.T., Richards C.S. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet. 1995, 56:114-122.
    • (1995) Am. J. Hum. Genet , vol.56 , pp. 114-122
    • Wong, L.J.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 59
    • 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.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat. Genet. 1995, 10:213-218.
    • (1995) Nat. Genet , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 60
    • 0030895078 scopus 로고    scopus 로고
    • Stability of a CTA/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome
    • Freudenreich C.H., Stavenhagen J.B., Zakian V.A. Stability of a CTA/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol. 1997, 17:2090-2098.
    • (1997) Mol. Cell. Biol , vol.17 , pp. 2090-2098
    • Freudenreich, C.H.1    Stavenhagen, J.B.2    Zakian, V.A.3
  • 61
    • 0032514711 scopus 로고    scopus 로고
    • Orientation-dependent and sequence-specific expansions of CTG CAG trinucleotide repeats in Saccharomyces cerevisiae
    • Miret J.J., Pessoa-Brandao L., Lahue R.S. Orientation-dependent and sequence-specific expansions of CTG CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 1998, 95:12438-12443.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 12438-12443
    • Miret, J.J.1    Pessoa-Brandao, L.2    Lahue, R.S.3
  • 62
    • 0030789980 scopus 로고    scopus 로고
    • Transcription increases the deletion frequency of long CTG CAG triplet repeats from plasmids in Escherichia coli
    • Bowater R.P., Jaworski A., Larson J.E., Parniewski P., Wells R.D. Transcription increases the deletion frequency of long CTG CAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res. 1997, 25:2861-2868.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2861-2868
    • Bowater, R.P.1    Jaworski, A.2    Larson, J.E.3    Parniewski, P.4    Wells, R.D.5
  • 63
    • 0033955771 scopus 로고    scopus 로고
    • Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli
    • Schmidt K.H., Abbott C.M., Leach D.R. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol. Microbiol. 2000, 35:463-471.
    • (2000) Mol. Microbiol , vol.35 , pp. 463-471
    • Schmidt, K.H.1    Abbott, C.M.2    Leach, D.R.3
  • 64
    • 0033556218 scopus 로고    scopus 로고
    • Nucleotide excision repair affects the stability of long transcribed (CTG CAG) tracts in an orientation-dependent manner in Escherichia coli
    • Parniewski P., Bacolla A., Jaworski A., Wells R.D. Nucleotide excision repair affects the stability of long transcribed (CTG CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res. 1999, 27:616-623.
    • (1999) Nucleic Acids Res , vol.27 , pp. 616-623
    • Parniewski, P.1    Bacolla, A.2    Jaworski, A.3    Wells, R.D.4
  • 66
    • 0031057683 scopus 로고    scopus 로고
    • Destabilization of CAG trinucleotide repeat by mismatch repair mutations in yeast
    • Schweitzer J.K., Livingston D.M. Destabilization of CAG trinucleotide repeat by mismatch repair mutations in yeast. Hum. Mol. Genet. 1997, 6:349-355.
    • (1997) Hum. Mol. Genet , vol.6 , pp. 349-355
    • Schweitzer, J.K.1    Livingston, D.M.2
  • 69
    • 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. Nat. Genet. 1996, 13:196-202.
    • (1996) Nat. Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 73
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntinton's disease mutation
    • Mangiarini L., Sathasivam K., Mahal A., Mott R., Seller M., Bates G.P. Instability of highly expanded CAG repeats in mice transgenic for the Huntinton's disease mutation. Nat. Genet. 1997, 15:197-200.
    • (1997) Nat. Genet , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5    Bates, G.P.6
  • 75
    • 0032104278 scopus 로고    scopus 로고
    • Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice
    • Lavedan C., Crabczyk E., Usdin K., Nussbaum R.L. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 1998, 50:229-240.
    • (1998) Genomics , vol.50 , pp. 229-240
    • Lavedan, C.1    Crabczyk, E.2    Usdin, K.3    Nussbaum, R.L.4
  • 77
    • 0036417439 scopus 로고    scopus 로고
    • Instability of a premutationsized CGG repeat in FMR1 YAC transgenic mice
    • Peier A.M., Nelson D.L. Instability of a premutationsized CGG repeat in FMR1 YAC transgenic mice. Genomics 2002, 80:423-432.
    • (2002) Genomics , vol.80 , pp. 423-432
    • Peier, A.M.1    Nelson, D.L.2
  • 80
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec H., Lia-Baldini A.S., Duros C., Fouquet C., Lacroix C., Hofmann-Radvanyi H., Junien C., Gourdon G. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet. 2000, 9:1185-1194.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 1185-1194
    • Seznec, H.1    Lia-Baldini, A.S.2    Duros, C.3    Fouquet, C.4    Lacroix, C.5    Hofmann-Radvanyi, H.6    Junien, C.7    Gourdon, G.8
  • 81
    • 0031827446 scopus 로고    scopus 로고
    • Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
    • Lia A.S., Seznec H., Hoffmann-Radvany H., Radvany F., Duros C., Saquet C., Blanche M., Junien C., Gourdon G. Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum. Mol. Genet. 1998, 7:1285-1291.
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1285-1291
    • Lia, A.S.1    Seznec, H.2    Hoffmann-Radvany, H.3    Radvany, F.4    Duros, C.5    Saquet, C.6    Blanche, M.7    Junien, C.8    Gourdon, G.9
  • 82
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)(n) repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van Den Broek W.J., Nelen M.R., Wansink D.G., Coerwinkel M.M., te Riele H., Groenen P.J., Wieringa B. Somatic expansion behaviour of the (CTG)(n) repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 2002, 11:191-198.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 191-198
    • van den Broek, W.J.1    Nelen, M.R.2    Wansink, D.G.3    Coerwinkel, M.M.4    te Riele, H.5    Groenen, P.J.6    Wieringa, B.7
  • 89
    • 0034701278 scopus 로고    scopus 로고
    • Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Scal locus
    • Lorenzetti D., Watase K., Xu B., Matzuk M.M., Orr H.T., Zoghbi H.Y. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Scal locus. Hum. Mol. Genet. 2000, 9:779-785.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 779-785
    • Lorenzetti, D.1    Watase, K.2    Xu, B.3    Matzuk, M.M.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 90
    • 0242524440 scopus 로고    scopus 로고
    • Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
    • Watase K., Venken K.J., Sun Y., Orr H.T., Zoghbi H.Y. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum. Mol. Genet. 2003, 12:2789-2795.
    • (2003) Hum. Mol. Genet , vol.12 , pp. 2789-2795
    • Watase, K.1    Venken, K.J.2    Sun, Y.3    Orr, H.T.4    Zoghbi, H.Y.5
  • 91
    • 0034641887 scopus 로고    scopus 로고
    • Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
    • Kennedy L., Shelbourne P.F. Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?. Hum. Mol. Genet. 2000, 9:2539-2544.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 2539-2544
    • Kennedy, L.1    Shelbourne, P.F.2
  • 93
    • 0030763670 scopus 로고    scopus 로고
    • Intriguing association between disease associated unstable trinucleotide repeat and CpG island
    • Gourdon G., Dessen P., Lia A.S., Junien C., Hofmann-Radvanyi H. Intriguing association between disease associated unstable trinucleotide repeat and CpG island. Ann. Genet. 1997, 40:73-77.
    • (1997) Ann. Genet , vol.40 , pp. 73-77
    • Gourdon, G.1    Dessen, P.2    Lia, A.S.3    Junien, C.4    Hofmann-Radvanyi, H.5
  • 94
    • 0032971232 scopus 로고    scopus 로고
    • Cis-acting modifiers of expanded CAG CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands
    • Brock G.J., Anderson N.H., Monckton D.G. Cis-acting modifiers of expanded CAG CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands. Hum. Mol. Genet. 1999, 8:1061-1067.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1061-1067
    • Brock, G.J.1    Anderson, N.H.2    Monckton, D.G.3
  • 95
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, agedependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune M.T., Vassilopoulos C., Coolbaugh M.I., Siciliano M.J., Monckton D.G. Dramatic, expansion-biased, agedependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet. 2000, 9:439-445.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 439-445
    • Fortune, M.T.1    Vassilopoulos, C.2    Coolbaugh, M.I.3    Siciliano, M.J.4    Monckton, D.G.5
  • 96
    • 0036538560 scopus 로고    scopus 로고
    • Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
    • Zhang Y., Monckton D.G., Siciliano M.J., Connor T.H., Meistrich M.L. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum. Mol. Genet. 2002, 11:791-798.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 791-798
    • Zhang, Y.1    Monckton, D.G.2    Siciliano, M.J.3    Connor, T.H.4    Meistrich, M.L.5
  • 98
    • 0036578758 scopus 로고    scopus 로고
    • Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
    • Cleary J.D., Nichol K., Wang Y.H., Pearson C.E. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet. 2002, 31:37-46.
    • (2002) Nat. Genet , vol.31 , pp. 37-46
    • Cleary, J.D.1    Nichol, K.2    Wang, Y.H.3    Pearson, C.E.4
  • 100
    • 0042329754 scopus 로고    scopus 로고
    • Structure, function and evolution of CpG island promoters
    • Antequera F. Structure, function and evolution of CpG island promoters. Cell. Mol. Life Sci. 2003, 60:1647-1658.
    • (2003) Cell. Mol. Life Sci , vol.60 , pp. 1647-1658
    • Antequera, F.1
  • 101
    • 2642647114 scopus 로고    scopus 로고
    • Initiation of DNA replication at CpG islands in mammalian chromosomes
    • Delgado S., Gomez M., Bird A., Antequera F. Initiation of DNA replication at CpG islands in mammalian chromosomes. EMBO J. 1998, 17:2426-2435.
    • (1998) EMBO J , vol.17 , pp. 2426-2435
    • Delgado, S.1    Gomez, M.2    Bird, A.3    Antequera, F.4
  • 102
    • 0034674058 scopus 로고    scopus 로고
    • Length of CTA. CAG repeats determines the influence of mismatch repair on genetic instability
    • Parniewski P., Jaworski A., Wells R.D., Bowater R.P. Length of CTA. CAG repeats determines the influence of mismatch repair on genetic instability. J. Mol. Biol 2000, 299:865-874.
    • (2000) J. Mol. Biol , vol.299 , pp. 865-874
    • Parniewski, P.1    Jaworski, A.2    Wells, R.D.3    Bowater, R.P.4
  • 103
    • 0032779262 scopus 로고    scopus 로고
    • The effect of DNA replication mutations on CAG tract stability in yeast
    • Schweitzer J.K., Livingston D.M. The effect of DNA replication mutations on CAG tract stability in yeast. Genetics 1999, 152:953-963.
    • (1999) Genetics , vol.152 , pp. 953-963
    • Schweitzer, J.K.1    Livingston, D.M.2
  • 104
    • 0028058252 scopus 로고
    • Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
    • Ashizawa T., Dunne P.W., Ward P.A., Seltzer W.K., Richards C.S. Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994, 44:120-122.
    • (1994) Neurology , vol.44 , pp. 120-122
    • Ashizawa, T.1    Dunne, P.W.2    Ward, P.A.3    Seltzer, W.K.4    Richards, C.S.5
  • 105
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards R.I., Sutherland G.R. Simple repeat DNA is not replicated simply. Nat. Genet. 1994, 6:114-116.
    • (1994) Nat. Genet , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 106
    • 3042810192 scopus 로고    scopus 로고
    • Chemically induced increases and decreases in the rate of expansion of a CAG CTG triplet repeat
    • Gomes-Pereira M., Monckton D.G. Chemically induced increases and decreases in the rate of expansion of a CAG CTG triplet repeat. Nucleic Acids Res. 2004, 32:2865-2872.
    • (2004) Nucleic Acids Res , vol.32 , pp. 2865-2872
    • Gomes-Pereira, M.1    Monckton, D.G.2
  • 107
    • 0036198664 scopus 로고    scopus 로고
    • DNA mismatch repair and mutation avoidance pathways
    • Marti T.M., Kunz C., Fleck O. DNA mismatch repair and mutation avoidance pathways. J. Cell. Physiol. 2002, 191:28-41.
    • (2002) J. Cell. Physiol , vol.191 , pp. 28-41
    • Marti, T.M.1    Kunz, C.2    Fleck, O.3
  • 108
    • 0035054387 scopus 로고    scopus 로고
    • Deficient DNA mismatch repair: A common etiologic factor for colon cancer
    • Peltomaki P. Deficient DNA mismatch repair: A common etiologic factor for colon cancer. Hum. Mol. Genet. 2001, 10:735-740.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 735-740
    • Peltomaki, P.1
  • 109
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley K., Shirley T.L., Flaherty L., Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 1999, 23:471-473.
    • (1999) Nat. Genet , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4
  • 110
    • 0034326903 scopus 로고    scopus 로고
    • Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's diseage gene
    • Kovtun I.V., Therneau T.M., McMurray C.T. Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's diseage gene. Hum. Mol. Genet. 2000, 9:2767-2775.
    • (2000) Hum. Mol. Genet , vol.9 , pp. 2767-2775
    • Kovtun, I.V.1    Therneau, T.M.2    McMurray, C.T.3
  • 113
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun I.V., McMurray C.T. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 2001, 27:407-411.
    • (2001) Nat. Genet , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 114
    • 0030752987 scopus 로고    scopus 로고
    • Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
    • Pearson C.E., Ewel A., Acharya S., Fishel R.A., Sinden R.R. Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum. Mol. Genet. 1997, 6:1117-1123.
    • (1997) Hum. Mol. Genet , vol.6 , pp. 1117-1123
    • Pearson, C.E.1    Ewel, A.2    Acharya, S.3    Fishel, R.A.4    Sinden, R.R.5
  • 115
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG CTG repeat somatic mosaicism: Implications for the mechnnism of triplet repeat expansion
    • Gomes-Pereira M., Fortune M.T., Ingram L., McAbney J.P., Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG CTG repeat somatic mosaicism: Implications for the mechnnism of triplet repeat expansion. Hum. Mol. Genet. 2004, 13:1815-1825.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1    Fortune, M.T.2    Ingram, L.3    McAbney, J.P.4    Monckton, D.G.5
  • 116
    • 0033551777 scopus 로고    scopus 로고
    • Genetic instabilities in (CTG CAG) repeats occur by recombination
    • Jakupciak J.P., Wells R.D. Genetic instabilities in (CTG CAG) repeats occur by recombination. J. Biol. Chem. 1999, 274:23468-23479.
    • (1999) J. Biol. Chem , vol.274 , pp. 23468-23479
    • Jakupciak, J.P.1    Wells, R.D.2
  • 117
    • 0034704123 scopus 로고    scopus 로고
    • Gene conversion (recombination) mediates expansions of CTG CAG repeats
    • Jakupciak J.P., Wells R.D. Gene conversion (recombination) mediates expansions of CTG CAG repeats. J. Biol. Chem. 2000, 275:40003-40013.
    • (2000) J. Biol. Chem , vol.275 , pp. 40003-40013
    • Jakupciak, J.P.1    Wells, R.D.2
  • 118
    • 0034102420 scopus 로고    scopus 로고
    • Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast
    • Jankowski C., Nasar F., Nag D.K. Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast. Proc. Natl. Acad. Sci. USA 2000, 97:2134-2139.
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 2134-2139
    • Jankowski, C.1    Nasar, F.2    Nag, D.K.3
  • 119
    • 0034658187 scopus 로고    scopus 로고
    • Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex
    • Richard G.F., Goellner G.M., McMurray C.T., Haber J.E. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J. 2000, 19:2381-2390.
    • (2000) EMBO J , vol.19 , pp. 2381-2390
    • Richard, G.F.1    Goellner, G.M.2    McMurray, C.T.3    Haber, J.E.4
  • 121
    • 0032488872 scopus 로고    scopus 로고
    • Expansion and length-dependent fragility of CTG repeats in yeast
    • Freudenreich C.H., Kantrow S.M., Zakian V.A. Expansion and length-dependent fragility of CTG repeats in yeast. Science 1998, 279:853-856.
    • (1998) Science , vol.279 , pp. 853-856
    • Freudenreich, C.H.1    Kantrow, S.M.2    Zakian, V.A.3
  • 122
    • 0035289717 scopus 로고    scopus 로고
    • Chromosomal stability and the DNA double-stranded break connection
    • van Gent D.C., Hoeijmakers J.H., Kannar R. Chromosomal stability and the DNA double-stranded break connection. Nat. Rev. Genet. 2001, 2:196-206.
    • (2001) Nat. Rev. Genet , vol.2 , pp. 196-206
    • van Gent, D.C.1    Hoeijmakers, J.H.2    Kannar, R.3
  • 123
    • 0038799991 scopus 로고    scopus 로고
    • Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae
    • Paques F., Haber J.E. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol. Mol. Biol. Rev. 1999, 63:349-404.
    • (1999) Microbiol. Mol. Biol. Rev , vol.63 , pp. 349-404
    • Paques, F.1    Haber, J.E.2
  • 124
    • 0030834260 scopus 로고    scopus 로고
    • Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination
    • Sugawara N., Paques F., Colaiacovo M., Haber J.E. Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination. Proc. Natl. Acad. Sci. USA 1997, 94:9214-9219.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 9214-9219
    • Sugawara, N.1    Paques, F.2    Colaiacovo, M.3    Haber, J.E.4
  • 125
    • 0034195218 scopus 로고    scopus 로고
    • Partners and pathways repairing a double-strand break
    • Haber J.E. Partners and pathways repairing a double-strand break. Trends Genet. 2000, 16:259-264.
    • (2000) Trends Genet , vol.16 , pp. 259-264
    • Haber, J.E.1
  • 126
    • 1542304754 scopus 로고    scopus 로고
    • CAG repeat lengths in X-and Y-bearing sperm indicate that gender bias during transmission of Huntington's disease gene is determined in the embryo
    • Kovtun I.V., Welch G., Guthrie H.D., Hafner K.L., McMurray C.T. CAG repeat lengths in X-and Y-bearing sperm indicate that gender bias during transmission of Huntington's disease gene is determined in the embryo. J. Biol. Chem. 2004, 279:9389-9391.
    • (2004) J. Biol. Chem , vol.279 , pp. 9389-9391
    • Kovtun, I.V.1    Welch, G.2    Guthrie, H.D.3    Hafner, K.L.4    McMurray, C.T.5
  • 127
    • 0034045198 scopus 로고    scopus 로고
    • Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
    • Martorell L., Monckton D.G., Gamez J., Baiget M. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur. J. Hum. Genet. 2000, 8:423-430.
    • (2000) Eur. J. Hum. Genet , vol.8 , pp. 423-430
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3    Baiget, M.4
  • 129
    • 0346725953 scopus 로고    scopus 로고
    • MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice
    • Savouret C., Garcia-Cordier C., Megret J., te Riele H., Junien C., Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol. Cell. Biol. 2004, 24:629-637.
    • (2004) Mol. Cell. Biol , vol.24 , pp. 629-637
    • Savouret, C.1    Garcia-Cordier, C.2    Megret, J.3    te Riele, H.4    Junien, C.5    Gourdon, G.6
  • 131
    • 0034004137 scopus 로고    scopus 로고
    • Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice
    • Richardson L.L., Pedigo C., Ann Handel M. Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in mice. Biol. Reprod. 2000, 62:789-796.
    • (2000) Biol. Reprod , vol.62 , pp. 789-796
    • Richardson, L.L.1    Pedigo, C.2    Ann Handel, M.3
  • 132
    • 0042307369 scopus 로고    scopus 로고
    • Huntington disease expansion mutations in humans can occur before meiosis is completed
    • Yoon S.R., Dubeau L., de Young M., Wexler N.S., Arnheim N. Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc. Natl. Acad. Sci. USA 2003, 100:8834-8838.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 8834-8838
    • Yoon, S.R.1    Dubeau, L.2    de Young, M.3    Wexler, N.S.4    Arnheim, N.5
  • 133
    • 0030915868 scopus 로고    scopus 로고
    • Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
    • Martorell L., Johnson K., Boucher C.A., Baiget M. Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum. Mol. Genet. 1997, 6:877-880.
    • (1997) Hum. Mol. Genet , vol.6 , pp. 877-880
    • Martorell, L.1    Johnson, K.2    Boucher, C.A.3    Baiget, M.4
  • 134
    • 11044230096 scopus 로고    scopus 로고
    • Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations
    • Kovtun I.V., Thornhill A.R., McMurray C.T. Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Mol. Genet. 2004, 13.
    • (2004) Hum. Mol. Genet , vol.13
    • Kovtun, I.V.1    Thornhill, A.R.2    McMurray, C.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.