메뉴 건너뛰기




Volumn 29, Issue 6, 2007, Pages 525-535

Dynamic mutations as digital genetic modulators of brain development, function and dysfunction

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; MICROSATELLITE DNA;

EID: 34250208181     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.20589     Document Type: Review
Times cited : (53)

References (115)
  • 1
    • 0021707651 scopus 로고
    • Enhanced gene expression by the poly(dT-dG).poly(dC-dA) sequence
    • Hamada H, Seidman M, Howard BH, Gorman CM. 1984. Enhanced gene expression by the poly(dT-dG).poly(dC-dA) sequence. Mol Cell Biol 4:2622-2630.
    • (1984) Mol Cell Biol , vol.4 , pp. 2622-2630
    • Hamada, H.1    Seidman, M.2    Howard, B.H.3    Gorman, C.M.4
  • 2
    • 23444458415 scopus 로고
    • Transcriptional activation modulated by homopolymeric glutamine and proline stretches
    • Gerber HP, Seipel K, Georgiev O, Hofferer M, Hug M, et al. 1994 Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263:808-811.
    • (1994) Science , vol.263 , pp. 808-811
    • Gerber, H.P.1    Seipel, K.2    Georgiev, O.3    Hofferer, M.4    Hug, M.5
  • 3
    • 0028223866 scopus 로고
    • Triple repeat DNA as a highly mutable regulatory mechanism
    • King DG. 1994. Triple repeat DNA as a highly mutable regulatory mechanism. Science 263:595-596.
    • (1994) Science , vol.263 , pp. 595-596
    • King, D.G.1
  • 4
    • 0031081111 scopus 로고    scopus 로고
    • Simple sequence repeats as a source of quantitative genetic variation
    • Kashi Y, King D, Soller M. 1997, Simple sequence repeats as a source of quantitative genetic variation. Trends Genet 13:74-78.
    • (1997) Trends Genet , vol.13 , pp. 74-78
    • Kashi, Y.1    King, D.2    Soller, M.3
  • 5
    • 0031442734 scopus 로고    scopus 로고
    • Natural variation in a Drosophila clock gene and temperature compensation
    • Sawyer LA, Hennessy JM, Peixoto AA, Rosato E, Parkinson H, et al. 1997. Natural variation in a Drosophila clock gene and temperature compensation. Science 278:2117-2120.
    • (1997) Science , vol.278 , pp. 2117-2120
    • Sawyer, L.A.1    Hennessy, J.M.2    Peixoto, A.A.3    Rosato, E.4    Parkinson, H.5
  • 6
    • 0031613041 scopus 로고    scopus 로고
    • VNTR (variable number of tandem repeat) sequences as transcriptional, translational, or functional regulators
    • Nakamura Y, Koyama K, Matsushima M. 1998. VNTR (variable number of tandem repeat) sequences as transcriptional, translational, or functional regulators. J Hum Genet 43:149-152.
    • (1998) J Hum Genet , vol.43 , pp. 149-152
    • Nakamura, Y.1    Koyama, K.2    Matsushima, M.3
  • 7
    • 0033855579 scopus 로고    scopus 로고
    • Repeat polymorphisms within gene regions: Phenotypic and evolutionary implications
    • Wren JD. Forgacs E, Fondon JW, 3rd. Pertsemlidis A, Cheng SY, et al. 2000. Repeat polymorphisms within gene regions: phenotypic and evolutionary implications. Am J Hum Genet 67:345-356.
    • (2000) Am J Hum Genet , vol.67 , pp. 345-356
    • Wren, J.D.1    Forgacs, E.2    Fondon 3rd, J.W.3    Pertsemlidis, A.4    Cheng, S.Y.5
  • 8
    • 0034049112 scopus 로고    scopus 로고
    • Trinucleotide repeats are clustered in regulatory genes in Saccharomyces cerevisiae
    • Young ET, Sloan JS, Van Riper K. 2000. Trinucleotide repeats are clustered in regulatory genes in Saccharomyces cerevisiae. Genetics 154:1053-1068.
    • (2000) Genetics , vol.154 , pp. 1053-1068
    • Young, E.T.1    Sloan, J.S.2    Van Riper, K.3
  • 10
    • 0036855185 scopus 로고    scopus 로고
    • Abundant raw material for cis-regulatory evolution in humans
    • Rockman MV, Wray GA. 2002. Abundant raw material for cis-regulatory evolution in humans. Mol Biol Evol 19:1991-2004.
    • (2002) Mol Biol Evol , vol.19 , pp. 1991-2004
    • Rockman, M.V.1    Wray, G.A.2
  • 11
    • 11144230088 scopus 로고    scopus 로고
    • Molecular origins of rapid and continuous morphological evolution
    • Fondon JW, 3rd, Garner HR. 2004. Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci USA 101:18058-18063.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 18058-18063
    • Fondon 3rd, J.W.1    Garner, H.R.2
  • 12
    • 2442701496 scopus 로고    scopus 로고
    • Microsatellites within genes: Structure, function, and evolution
    • Li YC, Korol AB, Fahima T, Nevo E. 2004. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol 21:991-1007.
    • (2004) Mol Biol Evol , vol.21 , pp. 991-1007
    • Li, Y.C.1    Korol, A.B.2    Fahima, T.3    Nevo, E.4
  • 13
    • 20644472668 scopus 로고    scopus 로고
    • Microsatellite instability generates diversity in brain and sociobehavioral traits
    • Hammock EA, Young LJ. 2005. Microsatellite instability generates diversity in brain and sociobehavioral traits. Science 308:1630-1634.
    • (2005) Science , vol.308 , pp. 1630-1634
    • Hammock, E.A.1    Young, L.J.2
  • 14
    • 27444442357 scopus 로고    scopus 로고
    • Short, local duplications in eukaryotic genomes
    • Thomas EE. 2005. Short, local duplications in eukaryotic genomes. Curr Opin Genet Dev 15:640-644.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 640-644
    • Thomas, E.E.1
  • 15
    • 33646130830 scopus 로고    scopus 로고
    • Simple sequence repeats as advantageous mutators in evolution
    • Kashi Y, King DG. 2006. Simple sequence repeats as advantageous mutators in evolution. Trends Genet 22:253-259.
    • (2006) Trends Genet , vol.22 , pp. 253-259
    • Kashi, Y.1    King, D.G.2
  • 16
    • 0028072993 scopus 로고
    • Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations
    • Rubinsztein DC, Leggo J, Amos W, Barton DE, Ferguson-Smith MA. 1994. Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum Mol Genet 3:2031-2035.
    • (1994) Hum Mol Genet , vol.3 , pp. 2031-2035
    • Rubinsztein, D.C.1    Leggo, J.2    Amos, W.3    Barton, D.E.4    Ferguson-Smith, M.A.5
  • 17
    • 0029073687 scopus 로고
    • Microsatellite evolution-evidence for directionality and variation in rate between species
    • Rubinsztein DC, Amos W, Leggo J, Goodburn S, Jain S, et al. 1995. Microsatellite evolution-evidence for directionality and variation in rate between species. Nat Genet 10:337-343.
    • (1995) Nat Genet , vol.10 , pp. 337-343
    • Rubinsztein, D.C.1    Amos, W.2    Leggo, J.3    Goodburn, S.4    Jain, S.5
  • 18
    • 0029620648 scopus 로고
    • Microsatellites evolve more rapidly in humans than in chimpanzees
    • Rubinsztein DC, Leggo J, Amos W. 1995. Microsatellites evolve more rapidly in humans than in chimpanzees. Genomics 30:610-612.
    • (1995) Genomics , vol.30 , pp. 610-612
    • Rubinsztein, D.C.1    Leggo, J.2    Amos, W.3
  • 19
    • 0030017038 scopus 로고    scopus 로고
    • Microsatellites show mutational bias and heterozygote instability
    • Amos W, Sawcer SJ, Feakes RW, Rubinsztein DC. 1996. Microsatellites show mutational bias and heterozygote instability. Nat Genet 13:390-391.
    • (1996) Nat Genet , vol.13 , pp. 390-391
    • Amos, W.1    Sawcer, S.J.2    Feakes, R.W.3    Rubinsztein, D.C.4
  • 20
    • 0030035824 scopus 로고    scopus 로고
    • Directional evolution in germline microsatellite mutations
    • Primmer CR, Saino N, Moller AP, Ellegren H. 1996. Directional evolution in germline microsatellite mutations. Nat Genet 13:391-393.
    • (1996) Nat Genet , vol.13 , pp. 391-393
    • Primmer, C.R.1    Saino, N.2    Moller, A.P.3    Ellegren, H.4
  • 21
    • 0031686151 scopus 로고    scopus 로고
    • Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues
    • Cooper G, Rubinsztein DC, Amos W. 1998. Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues. Hum Mol Genet 7:1425-1429.
    • (1998) Hum Mol Genet , vol.7 , pp. 1425-1429
    • Cooper, G.1    Rubinsztein, D.C.2    Amos, W.3
  • 22
    • 0032717267 scopus 로고    scopus 로고
    • Markov chain Monte Carlo analysis of human Y-chromosome microsatellites provides evidence of biased mutation
    • Cooper G, Burroughs NJ, Rand DA, Rubinsztein DC, Amos W. 1999. Markov chain Monte Carlo analysis of human Y-chromosome microsatellites provides evidence of biased mutation. Proc Natl Acad Sci USA 96:11916-11921.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 11916-11921
    • Cooper, G.1    Burroughs, N.J.2    Rand, D.A.3    Rubinsztein, D.C.4    Amos, W.5
  • 23
    • 0042819915 scopus 로고    scopus 로고
    • Intrinsically unstructured proteins evolve by repeat expansion
    • Tompa P. 2003. Intrinsically unstructured proteins evolve by repeat expansion. Bioessays 25:847-855.
    • (2003) Bioessays , vol.25 , pp. 847-855
    • Tompa, P.1
  • 24
    • 3042782819 scopus 로고    scopus 로고
    • Microsatellites: Simple sequences with complex evolution
    • Ellegren H. 2004. Microsatellites: simple sequences with complex evolution. Nat Rev Genet 5:435-445.
    • (2004) Nat Rev Genet , vol.5 , pp. 435-445
    • Ellegren, H.1
  • 26
    • 33749991391 scopus 로고    scopus 로고
    • The rise, fall and renaissance of microsatellites in eukaryotic genomes
    • Buschiazzo E, Gemmell NJ. 2006. The rise, fall and renaissance of microsatellites in eukaryotic genomes. Bioessays 28:1040-1050.
    • (2006) Bioessays , vol.28 , pp. 1040-1050
    • Buschiazzo, E.1    Gemmell, N.J.2
  • 27
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • Richards RI, Sutherland GR. 1992. Dynamic mutations: a new class of mutations causing human disease. Cell 70:709-712.
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 28
    • 23644455243 scopus 로고    scopus 로고
    • Gene-environment interactions, neuronal dysfunction and pathological plasticity in Huntington's disease
    • van Dellen A, Grote HE, Hannan AJ. 2005. Gene-environment interactions, neuronal dysfunction and pathological plasticity in Huntington's disease. Clin Exp Pharmacol Physiol 32:1007-1019.
    • (2005) Clin Exp Pharmacol Physiol , vol.32 , pp. 1007-1019
    • van Dellen, A.1    Grote, H.E.2    Hannan, A.J.3
  • 29
    • 25144494777 scopus 로고    scopus 로고
    • Intragenic tandem repeats generate functional variability
    • Verstrepen KJ, Jansen A, Lewitter F, Fink GR. 2005. Intragenic tandem repeats generate functional variability. Nat Genet 37:986-990.
    • (2005) Nat Genet , vol.37 , pp. 986-990
    • Verstrepen, K.J.1    Jansen, A.2    Lewitter, F.3    Fink, G.R.4
  • 31
    • 33748675254 scopus 로고    scopus 로고
    • An RNA gene expressed during cortical development evolved rapidly in humans
    • Pollard KS, Salama SR, Lambert N, Lambot MA, Coppens S, et al. 2006. An RNA gene expressed during cortical development evolved rapidly in humans. Nature 443:167-172.
    • (2006) Nature , vol.443 , pp. 167-172
    • Pollard, K.S.1    Salama, S.R.2    Lambert, N.3    Lambot, M.A.4    Coppens, S.5
  • 33
    • 0034971184 scopus 로고    scopus 로고
    • A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs
    • Kijas JM, Moller M, Plastow G, Andersson L. 2001. A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs. Genetics 158:779-785.
    • (2001) Genetics , vol.158 , pp. 779-785
    • Kijas, J.M.1    Moller, M.2    Plastow, G.3    Andersson, L.4
  • 34
    • 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 PF. 2000. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 9:2539-2544.
    • (2000) Hum Mol Genet , vol.9 , pp. 2539-2544
    • Kennedy, L.1    Shelbourne, P.F.2
  • 35
    • 33750032103 scopus 로고    scopus 로고
    • CAG*CTG repeat instability in cultured human astrocytes
    • Farrell BT, Lahue RS. 2006. CAG*CTG repeat instability in cultured human astrocytes. Nucleic Acids Res 34:4495-4505.
    • (2006) Nucleic Acids Res , vol.34 , pp. 4495-4505
    • Farrell, B.T.1    Lahue, R.S.2
  • 37
    • 17844383699 scopus 로고    scopus 로고
    • Functional insights from the distribution and role of homopeptide repeat-containing proteins
    • Faux NG, Bottomley SP, Lesk AM, Irving JA, Morrison JR, et al. 2005. Functional insights from the distribution and role of homopeptide repeat-containing proteins. Genome Res 15:537-551
    • (2005) Genome Res , vol.15 , pp. 537-551
    • Faux, N.G.1    Bottomley, S.P.2    Lesk, A.M.3    Irving, J.A.4    Morrison, J.R.5
  • 38
    • 28644433087 scopus 로고    scopus 로고
    • Normal huntingtin function: An alternative approach to Huntington's disease
    • Cattaneo E, Zuccato C, Tartari M. 2005. Normal huntingtin function: an alternative approach to Huntington's disease. Nat Rev Neurosci 6:919-930.
    • (2005) Nat Rev Neurosci , vol.6 , pp. 919-930
    • Cattaneo, E.1    Zuccato, C.2    Tartari, M.3
  • 39
    • 33746613605 scopus 로고    scopus 로고
    • Mammalian monogamy is not controlled by a single gene
    • Fink S, Excoffier L, Heckel G. 2006. Mammalian monogamy is not controlled by a single gene. Proc Natl Acad Sci USA 103:10956-10960.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 10956-10960
    • Fink, S.1    Excoffier, L.2    Heckel, G.3
  • 40
    • 0033614763 scopus 로고    scopus 로고
    • Microsatellite and trinucleotide-repeat evolution: Evidence for mutational bias and different rates of evolution in different lineages
    • Rubinsztein DC, Amos B, Cooper G. 1999. Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages. Philos Trans R Soc Lond B Biol Sci 354: 1095-1099.
    • (1999) Philos Trans R Soc Lond B Biol Sci , vol.354 , pp. 1095-1099
    • Rubinsztein, D.C.1    Amos, B.2    Cooper, G.3
  • 41
    • 5144224893 scopus 로고    scopus 로고
    • Microsatellite mutation models: Insights from a comparison of humans and chimpanzees
    • Sainudiin R, Durrett RT, Aquadro CF, Nielsen R. 2004. Microsatellite mutation models: insights from a comparison of humans and chimpanzees. Genetics 168:383-395.
    • (2004) Genetics , vol.168 , pp. 383-395
    • Sainudiin, R.1    Durrett, R.T.2    Aquadro, C.F.3    Nielsen, R.4
  • 42
    • 19344374132 scopus 로고    scopus 로고
    • Evidence for widespread convergent evolution around human microsatellites
    • Vowles EJ, Amos W. 2004. Evidence for widespread convergent evolution around human microsatellites. PLoS Biol 2:E199.
    • (2004) PLoS Biol , vol.2
    • Vowles, E.J.1    Amos, W.2
  • 43
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: Mechanisms and common principles
    • Gatchel JR, Zoghbi HY. 2005. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6:743-755.
    • (2005) Nat Rev Genet , vol.6 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 44
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. 1991. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 45
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, et al. 1994. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarashi, S.5
  • 46
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, et al. 1994. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3    Aizawa, M.4    Inoue, M.5
  • 47
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, et al. 1996. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5
  • 48
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, et al. 1997. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5
  • 49
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group
    • Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 51
    • 0036152343 scopus 로고    scopus 로고
    • Environmental enrichment slows disease progression in R6/2 Huntington's disease mice
    • Hockly E, Cordery PM, Woodman B, Mahal A, van Dellen A, et al. 2002. Environmental enrichment slows disease progression in R6/2 Huntington's disease mice. Ann Neurol 51:235-242.
    • (2002) Ann Neurol , vol.51 , pp. 235-242
    • Hockly, E.1    Cordery, P.M.2    Woodman, B.3    Mahal, A.4    van Dellen, A.5
  • 52
    • 1542286877 scopus 로고    scopus 로고
    • Environmental enrichment rescues protein deficits in a mouse model of Huntington's disease, indicating a possible disease mechanism
    • Spires TL, Grote HE, Varshney NK, Cordery PM, van Dellen A, et al. 2004. Environmental enrichment rescues protein deficits in a mouse model of Huntington's disease, indicating a possible disease mechanism. J Neurosci 24:2270-2276
    • (2004) J Neurosci , vol.24 , pp. 2270-2276
    • Spires, T.L.1    Grote, H.E.2    Varshney, N.K.3    Cordery, P.M.4    van Dellen, A.5
  • 53
    • 33747613561 scopus 로고    scopus 로고
    • Enriched environments, experience-dependent plasticity and disorders of the nervous system
    • Nithianantharajah J, Hannan AJ. 2006. Enriched environments, experience-dependent plasticity and disorders of the nervous system. Nat Rev Neurosci 7:697-709.
    • (2006) Nat Rev Neurosci , vol.7 , pp. 697-709
    • Nithianantharajah, J.1    Hannan, A.J.2
  • 54
    • 12144288251 scopus 로고    scopus 로고
    • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, et al. 2004. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA 101:3498-3503.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 3498-3503
    • Wexler, N.S.1    Lorimer, J.2    Porter, J.3    Gomez, F.4    Moskowitz, C.5
  • 55
    • 16044373842 scopus 로고    scopus 로고
    • Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    • Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, et al. 1996. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506.
    • (1996) Cell , vol.87 , pp. 493-506
    • Mangiarini, L.1    Sathasivam, K.2    Seller, M.3    Cozens, B.4    Harper, A.5
  • 56
    • 18544410106 scopus 로고    scopus 로고
    • Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
    • Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, et al. 1997. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90:537-548.
    • (1997) Cell , vol.90 , pp. 537-548
    • Davies, S.W.1    Turmaine, M.2    Cozens, B.A.3    DiFiglia, M.4    Sharp, A.H.5
  • 57
    • 0032568517 scopus 로고    scopus 로고
    • Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene
    • Cha JH, Kosinski CM, Kerner JA, Alsdorf SA, Mangiarini L, et al. 1998 Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human huntington disease gene. Proc Natl Acad Sci USA 95:6480-6485.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6480-6485
    • Cha, J.H.1    Kosinski, C.M.2    Kerner, J.A.3    Alsdorf, S.A.4    Mangiarini, L.5
  • 58
    • 0034702030 scopus 로고    scopus 로고
    • Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
    • Luthi-Carter R, Strand A, Peters NL, Solano SM, Hollingsworth ZR, et al. 2000. Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum Mol Genet 9:1259-1271.
    • (2000) Hum Mol Genet , vol.9 , pp. 1259-1271
    • Luthi-Carter, R.1    Strand, A.2    Peters, N.L.3    Solano, S.M.4    Hollingsworth, Z.R.5
  • 59
    • 0032897760 scopus 로고    scopus 로고
    • Impaired synaptic plasticity in mice carrying the Huntington's disease mutation
    • Usdin MT, Shelbourne PF, Myers RM, Madison DV. 1999. Impaired synaptic plasticity in mice carrying the Huntington's disease mutation. Hum Mol Genet 8:839-846.
    • (1999) Hum Mol Genet , vol.8 , pp. 839-846
    • Usdin, M.T.1    Shelbourne, P.F.2    Myers, R.M.3    Madison, D.V.4
  • 60
    • 0033136692 scopus 로고    scopus 로고
    • A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration
    • Hodgson JG, Agopyan N, Gutekunst CA, Leavitt BR, LePiane F, et al. 1999. A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron 23:181-192.
    • (1999) Neuron , vol.23 , pp. 181-192
    • Hodgson, J.G.1    Agopyan, N.2    Gutekunst, C.A.3    Leavitt, B.R.4    LePiane, F.5
  • 61
    • 0034234519 scopus 로고    scopus 로고
    • Abnormal synaptic plasticity and impaired spatial cognition in mice transgenic for exon 1 of the human Huntington's disease mutation
    • Murphy KP, Carter RJ, Lione LA, Mangiarini L, Mahal A, et al. 2000 Abnormal synaptic plasticity and impaired spatial cognition in mice transgenic for exon 1 of the human Huntington's disease mutation. J Neurosci 20:5115-5123.
    • (2000) J Neurosci , vol.20 , pp. 5115-5123
    • Murphy, K.P.1    Carter, R.J.2    Lione, L.A.3    Mangiarini, L.4    Mahal, A.5
  • 63
    • 27644524469 scopus 로고    scopus 로고
    • Cognitive disorders and neurogenesis deficits in Huntington's disease mice are rescued by fluoxetine
    • Grote HE, Bull ND, Howard ML, van Dellen A, Blakemore C, et al. 2005. Cognitive disorders and neurogenesis deficits in Huntington's disease mice are rescued by fluoxetine. Eur J Neurosci 22:2081-2088.
    • (2005) Eur J Neurosci , vol.22 , pp. 2081-2088
    • Grote, H.E.1    Bull, N.D.2    Howard, M.L.3    van Dellen, A.4    Blakemore, C.5
  • 64
    • 27644485740 scopus 로고    scopus 로고
    • Reduced hippocampal neurogenesis in R6/2 transgenic Huntington's disease mice
    • Gil JM, Mohapel P, Araujo IM, Popovic N, Li JY, et al. 2005. Reduced hippocampal neurogenesis in R6/2 transgenic Huntington's disease mice. Neurobiol Dis 20:744-751.
    • (2005) Neurobiol Dis , vol.20 , pp. 744-751
    • Gil, J.M.1    Mohapel, P.2    Araujo, I.M.3    Popovic, N.4    Li, J.Y.5
  • 65
    • 16244392082 scopus 로고    scopus 로고
    • Deficits in experience-dependent cortical plasticity and sensory-discrimination learning in presymptomatic Huntington's disease mice
    • Mazarakis NK, Cybulska-Klosowicz A, Grote H, Pang T, Van Dellen A, et al. 2005. Deficits in experience-dependent cortical plasticity and sensory-discrimination learning in presymptomatic Huntington's disease mice. J Neurosci 25:3059-3066.
    • (2005) J Neurosci , vol.25 , pp. 3059-3066
    • Mazarakis, N.K.1    Cybulska-Klosowicz, A.2    Grote, H.3    Pang, T.4    Van Dellen, A.5
  • 66
    • 33747768203 scopus 로고    scopus 로고
    • Huntington's disease: Seeing the pathogenic process through a genetic lens
    • Gusella JF, Macdonald ME. 2006. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci 31:533-540.
    • (2006) Trends Biochem Sci , vol.31 , pp. 533-540
    • Gusella, J.F.1    Macdonald, M.E.2
  • 67
    • 33846798475 scopus 로고    scopus 로고
    • Molecular mechanisms mediating pathological plasticity in Huntington's disease and Alzheimer's disease
    • Spires TL, Hannan AJ. 2007. Molecular mechanisms mediating pathological plasticity in Huntington's disease and Alzheimer's disease. J Neurochem 100:874-882.
    • (2007) J Neurochem , vol.100 , pp. 874-882
    • Spires, T.L.1    Hannan, A.J.2
  • 68
    • 0026621091 scopus 로고
    • Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy
    • Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, et al. 1992. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 42:2300-2302.
    • (1992) Neurology , vol.42 , pp. 2300-2302
    • Igarashi, S.1    Tanno, Y.2    Onodera, O.3    Yamazaki, M.4    Sato, S.5
  • 69
    • 0031446233 scopus 로고    scopus 로고
    • Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative diseases?
    • Ross CA. 1997. Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19:1147-1150.
    • (1997) Neuron , vol.19 , pp. 1147-1150
    • Ross, C.A.1
  • 70
    • 0033391428 scopus 로고    scopus 로고
    • Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
    • Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, et al. 1999. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron 24:879-892.
    • (1999) Neuron , vol.24 , pp. 879-892
    • Cummings, C.J.1    Reinstein, E.2    Sun, Y.3    Antalffy, B.4    Jiang, Y.5
  • 71
    • 0032475941 scopus 로고    scopus 로고
    • Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
    • Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, et al. 1998. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95:41-53.
    • (1998) Cell , vol.95 , pp. 41-53
    • Klement, I.A.1    Skinner, P.J.2    Kaytor, M.D.3    Yi, H.4    Hersch, S.M.5
  • 72
    • 0032475931 scopus 로고    scopus 로고
    • Huntingtin acts in the nucleus to induce apoptosls but death does not correlate with the formation of intranuclear inclusions
    • Saudou F, Finkbeiner S, Devys D, Greenberg ME. 1998 Huntingtin acts in the nucleus to induce apoptosls but death does not correlate with the formation of intranuclear inclusions. Cell 95:55-66.
    • (1998) Cell , vol.95 , pp. 55-66
    • Saudou, F.1    Finkbeiner, S.2    Devys, D.3    Greenberg, M.E.4
  • 73
    • 33750210519 scopus 로고    scopus 로고
    • Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease
    • Nguyen HP, Kobbe P, Rahne H, Worpel T, Jager B, et al. 2006. Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease. Hum Mol Genet 15:3177-3194.
    • (2006) Hum Mol Genet , vol.15 , pp. 3177-3194
    • Nguyen, H.P.1    Kobbe, P.2    Rahne, H.3    Worpel, T.4    Jager, B.5
  • 74
    • 23844472610 scopus 로고    scopus 로고
    • Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions
    • Slow EJ, Graham RK, Osmand AP, Devon RS, Lu G, et al. 2005, Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc Natl Acad Sci USA 102:11402-11407.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 11402-11407
    • Slow, E.J.1    Graham, R.K.2    Osmand, A.P.3    Devon, R.S.4    Lu, G.5
  • 75
    • 0032900772 scopus 로고    scopus 로고
    • An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    • Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, et al. 1999. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384.
    • (1999) Nat Genet , vol.21 , pp. 379-384
    • Koob, M.D.1    Moseley, M.L.2    Schut, L.J.3    Benzow, K.A.4    Bird, T.D.5
  • 76
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, et al, 2000 Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3    Rasmussen, A.4    Grewal, R.P.5
  • 77
    • 0032727249 scopus 로고    scopus 로고
    • Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
    • Holmes SE, O'Hearn EE, Mclnnis MG, Gorelick-Feldman DA, Kleiderlein JJ, et al. 1999. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392.
    • (1999) Nat Genet , vol.23 , pp. 391-392
    • Holmes, S.E.1    O'Hearn, E.E.2    Mclnnis, M.G.3    Gorelick-Feldman, D.A.4    Kleiderlein, J.J.5
  • 78
    • 18344379670 scopus 로고    scopus 로고
    • A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
    • Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, et al. 2001. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29:377-378.
    • (2001) Nat Genet , vol.29 , pp. 377-378
    • Holmes, S.E.1    O'Hearn, E.2    Rosenblatt, A.3    Callahan, C.4    Hwang, H.S.5
  • 79
    • 0347418199 scopus 로고    scopus 로고
    • Alanine tracts: The expanding story of human illness and trinucleotide repeats
    • Brown LY, Brown SA. 2004. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 20:51-58.
    • (2004) Trends Genet , vol.20 , pp. 51-58
    • Brown, L.Y.1    Brown, S.A.2
  • 80
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR. 1996. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 81
    • 0037108033 scopus 로고    scopus 로고
    • Limb malformations and the human HOX genes
    • Goodman FR. 2002. Limb malformations and the human HOX genes. Am J Med Genet 112:256-265.
    • (2002) Am J Med Genet , vol.112 , pp. 256-265
    • Goodman, F.R.1
  • 82
    • 0031833055 scopus 로고    scopus 로고
    • A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
    • Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, et al. 1998. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 7:1033-1038.
    • (1998) Hum Mol Genet , vol.7 , pp. 1033-1038
    • Johnson, K.R.1    Sweet, H.O.2    Donahue, L.R.3    Ward-Bailey, P.4    Bronson, R.T.5
  • 83
    • 0029963585 scopus 로고    scopus 로고
    • A mutational analysis of the 5′ HoxD genes: Dissection of genetic interactions during limb development in the mouse
    • Davis AP, Capecchi MR. 1996. A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse. Development 122:1175-1185.
    • (1996) Development , vol.122 , pp. 1175-1185
    • Davis, A.P.1    Capecchi, M.R.2
  • 84
    • 0029854152 scopus 로고    scopus 로고
    • Synpolydactyly in mice with a targeted deficiency in the HoxD complex
    • Zakany J, Duboule D. 1996. Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature 384:69-71.
    • (1996) Nature , vol.384 , pp. 69-71
    • Zakany, J.1    Duboule, D.2
  • 85
    • 15444351110 scopus 로고    scopus 로고
    • Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
    • Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, et al. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
    • (1997) Cell , vol.89 , pp. 773-779
    • Mundlos, S.1    Otto, F.2    Mundlos, C.3    Mulliken, J.B.4    Aylsworth, A.S.5
  • 86
    • 17344371397 scopus 로고    scopus 로고
    • Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
    • Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, et al. 1998. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-167.
    • (1998) Nat Genet , vol.18 , pp. 164-167
    • Brais, B.1    Bouchard, J.P.2    Xie, Y.G.3    Rochefort, D.L.4    Chretien, N.5
  • 87
    • 0034703413 scopus 로고    scopus 로고
    • Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
    • Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, et al. 2000. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 9:2321-2328.
    • (2000) Hum Mol Genet , vol.9 , pp. 2321-2328
    • Calado, A.1    Tome, F.M.2    Brais, B.3    Rouleau, G.A.4    Kuhn, U.5
  • 88
    • 0035504113 scopus 로고    scopus 로고
    • Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death
    • Fan X, Dion P, Laganiere J, Brais B, Rouleau GA. 2001. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum Mol Genet 10:2341-2351.
    • (2001) Hum Mol Genet , vol.10 , pp. 2341-2351
    • Fan, X.1    Dion, P.2    Laganiere, J.3    Brais, B.4    Rouleau, G.A.5
  • 89
    • 0037096832 scopus 로고    scopus 로고
    • Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells
    • Dorsman JC, Pepers B, Langenberg D, Kerkdijk H, Ijszenga M, et al. 2002. Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet 11:1487-1496.
    • (2002) Hum Mol Genet , vol.11 , pp. 1487-1496
    • Dorsman, J.C.1    Pepers, B.2    Langenberg, D.3    Kerkdijk, H.4    Ijszenga, M.5
  • 90
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5
  • 91
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear MF, Huber KM, Warren ST. 2004. The mGluR theory of fragile X mental retardation. Trends Neurosci 27:370-377.
    • (2004) Trends Neurosci , vol.27 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 93
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, et al. 1996. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3    Pianese, L.4    Cossee, M.5
  • 94
    • 1542350111 scopus 로고    scopus 로고
    • Friedreich ataxia-update on pathogenesis and possible therapies
    • Voncken M, loannou P, Delatycki MB. 2004. Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics 5:1-8.
    • (2004) Neurogenetics , vol.5 , pp. 1-8
    • Voncken, M.1    loannou, P.2    Delatycki, M.B.3
  • 96
    • 0033515496 scopus 로고    scopus 로고
    • Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study-preliminary data
    • Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, et al. 1999. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am J Med Genet 83:322-325.
    • (1999) Am J Med Genet , vol.83 , pp. 322-325
    • Allingham-Hawkins, D.J.1    Babul-Hirji, R.2    Chitayat, D.3    Holden, J.J.4    Yang, K.T.5
  • 97
    • 0033982829 scopus 로고    scopus 로고
    • Association between idiopathic premature ovarian failure and fragile X premutation
    • Marozzi A, Vegetti W, Manfredini E, Tibiletti MG, Testa G, et al. 2000. Association between idiopathic premature ovarian failure and fragile X premutation. Hum Reprod 15:197-202.
    • (2000) Hum Reprod , vol.15 , pp. 197-202
    • Marozzi, A.1    Vegetti, W.2    Manfredini, E.3    Tibiletti, M.G.4    Testa, G.5
  • 98
    • 33846899670 scopus 로고    scopus 로고
    • Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X
    • Loesch DZ, Bui QM, Dissanayake C, Clifford S, Gould E, et al. 2007. Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev 31:315-326.
    • (2007) Neurosci Biobehav Rev , vol.31 , pp. 315-326
    • Loesch, D.Z.1    Bui, Q.M.2    Dissanayake, C.3    Clifford, S.4    Gould, E.5
  • 99
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, et al. 2001 Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3    Tassone, F.4    Wilson, R.5
  • 100
    • 23944490213 scopus 로고    scopus 로고
    • Recent advances in fragile X: A model for autism and neurodegeneration
    • Hagerman RJ, Ono MY, Hagerman PJ. 2005. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry 18:490-496.
    • (2005) Curr Opin Psychiatry , vol.18 , pp. 490-496
    • Hagerman, R.J.1    Ono, M.Y.2    Hagerman, P.J.3
  • 101
    • 0036846189 scopus 로고    scopus 로고
    • Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    • Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, et al. 2002. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 23:1757-1766.
    • (2002) AJNR Am J Neuroradiol , vol.23 , pp. 1757-1766
    • Brunberg, J.A.1    Jacquemont, S.2    Hagerman, R.J.3    Berry-Kravis, E.M.4    Grigsby, J.5
  • 102
    • 23244441878 scopus 로고    scopus 로고
    • Magnetic resonance imaging study in older fragile X premutation male carriers
    • Loesch DZ, Litewka L, Brotchie P, Huggins RM, Tassone F, et al. 2005. Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol 58:326-330.
    • (2005) Ann Neurol , vol.58 , pp. 326-330
    • Loesch, D.Z.1    Litewka, L.2    Brotchie, P.3    Huggins, R.M.4    Tassone, F.5
  • 103
    • 0037384643 scopus 로고    scopus 로고
    • Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
    • Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, et al. 2003. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878.
    • (2003) Am J Hum Genet , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3    Grigsby, J.4    Zhang, L.5
  • 104
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, et al. 2000. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66:6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5
  • 105
    • 0035503902 scopus 로고    scopus 로고
    • Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis
    • Galvao R, Mendes-Soares L, Camara J, Jaco I, Carmo-Fonseca M. 2001, Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis. Brain Res Bull 56:191-201.
    • (2001) Brain Res Bull , vol.56 , pp. 191-201
    • Galvao, R.1    Mendes-Soares, L.2    Camara, J.3    Jaco, I.4    Carmo-Fonseca, M.5
  • 106
    • 27644483475 scopus 로고    scopus 로고
    • Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
    • Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, et al. 2005. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet 139:115-121.
    • (2005) Am J Med Genet B Neuropsychiatr Genet , vol.139 , pp. 115-121
    • Hessl, D.1    Tassone, F.2    Loesch, D.Z.3    Berry-Kravis, E.4    Leehey, M.A.5
  • 107
    • 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 JD, McCurrach ME, Harley HG, Buckler AJ, Church D, 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.
    • (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
  • 108
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, et al. 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 Jr, R.G.3    King, J.4    Rajnarayan, S.5
  • 109
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, et al. 1992. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3    Shutler, G.4    Amemiya, C.5
  • 110
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, et al. 2001. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3    Jacobsen, J.F.4    Kress, W.5
  • 111
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi A, Logigian E, Callahan L, McClain C, White R, et al. 2000. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-1773.
    • (2000) Science , vol.289 , pp. 1769-1773
    • Mankodi, A.1    Logigian, E.2    Callahan, L.3    McClain, C.4    White, R.5
  • 112
    • 33846318219 scopus 로고    scopus 로고
    • Myotonic dystrophy: Emerging mechanisms for DM1 and DM2
    • Cho DH, Tapscott SJ. 2007. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 1772:195-204.
    • (2007) Biochim Biophys Acta , vol.1772 , pp. 195-204
    • Cho, D.H.1    Tapscott, S.J.2
  • 113
    • 0031034894 scopus 로고    scopus 로고
    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, etal. 1997. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15:298-302.
    • (1997) Nat Genet , vol.15 , pp. 298-302
    • Lafreniere, R.G.1    Rochefort, D.L.2    Chretien, N.3    Rommens, J.M.4    Cochius, J.I.5
  • 114
    • 0034799477 scopus 로고    scopus 로고
    • Advances in the genetics of progressive myoclonus epilepsy
    • Delgado-Escueta AV, Ganesh S, Yamakawa K. 2001. Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet 106:129-138.
    • (2001) Am J Med Genet , vol.106 , pp. 129-138
    • Delgado-Escueta, A.V.1    Ganesh, S.2    Yamakawa, K.3
  • 115
    • 16944365288 scopus 로고    scopus 로고
    • Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
    • Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, et al. 1997. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83.
    • (1997) Nat Genet , vol.17 , pp. 79-83
    • Laken, S.J.1    Petersen, G.M.2    Gruber, S.B.3    Oddoux, C.4    Ostrer, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.