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Volumn 41, Issue 11, 2004, Pages 826-836

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; MYOD PROTEIN;

EID: 8744240156     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.019364     Document Type: Article
Times cited : (74)

References (53)
  • 1
    • 0031777331 scopus 로고    scopus 로고
    • Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy
    • Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998;50(6):1791-4.
    • (1998) Neurology , vol.50 , Issue.6 , pp. 1791-1794
    • Funakoshi, M.1    Goto, K.2    Arahata, K.3
  • 9
    • 0028925370 scopus 로고
    • Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
    • Lee JH, Gota K, Matsuda C, Arahata K. Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 1995;2:6-13.
    • (1995) Muscle Nerve , vol.2 , pp. 6-13
    • Lee, J.H.1    Gota, K.2    Matsuda, C.3    Arahata, K.4
  • 10
    • 0029038951 scopus 로고
    • Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
    • Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4(5):951-8.
    • (1995) Hum Mol Genet , vol.4 , Issue.5 , pp. 951-958
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.C.3    Maynard, J.4    Osborn, M.5    Williams, M.6    Harper, P.S.7    Upadhyaya, M.8
  • 11
    • 0029984970 scopus 로고    scopus 로고
    • Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
    • The FSH-DY Group
    • Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neural 1996;39(6):744-8.
    • (1996) Ann Neural , vol.39 , Issue.6 , pp. 744-748
    • Tawil, R.1    Forrester, J.2    Griggs, R.C.3    Mendell, J.4    Kissel, J.5    McDermott, M.6    King, W.7    Weiffenbach, B.8    Figlewicz, D.9
  • 12
    • 0028303398 scopus 로고
    • The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease
    • Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenboch B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, Schutte BC. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 1994;2(3):225-34.
    • (1994) Chromosome Res , vol.2 , Issue.3 , pp. 225-234
    • Winokur, S.T.1    Bengtsson, U.2    Feddersen, J.3    Mathews, K.D.4    Weiffenboch, B.5    Bailey, H.6    Markovich, R.P.7    Murray, J.C.8    Wasmuth, J.J.9    Altherr, M.R.10    Schutte, B.C.11
  • 13
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der MS, Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003;12(22):2909-21.
    • (2003) Hum Mol Genet , vol.12 , Issue.22 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.3    Vedanarayanan, V.4    Van Der, M.S.5    Ehrlich, M.6
  • 19
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD. A represser complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D, Green M, Tupler R. Inappropriate gene activation in FSHD. A represser complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002;110(3):339-48.
    • (2002) Cell , vol.110 , Issue.3 , pp. 339-348
    • Gabellini, D.1    Green, M.2    Tupler, R.3
  • 21
    • 0037468461 scopus 로고    scopus 로고
    • Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
    • Yip DJ, Picketts DJ. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett 2003;537(1-3):133-8.
    • (2003) FEBS Lett , vol.537 , Issue.1-3 , pp. 133-138
    • Yip, D.J.1    Picketts, D.J.2
  • 23
    • 0029041708 scopus 로고
    • Physical mapping evidence far a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter
    • Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence far a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 1995;3:155-67.
    • (1995) Eur J Hum Genet , vol.3 , pp. 155-167
    • Deidda, G.1    Cacurri, S.2    Grisanti, P.3    Vigneti, E.4    Piazzo, N.5    Felicetti, L.6
  • 24
    • 0029827344 scopus 로고    scopus 로고
    • Evidence far subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications far genetic counselling and etiology of FSHD1
    • Van Deutekom K, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. Evidence far subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications far genetic counselling and etiology of FSHD1. Hum Mol Genet 1996;5(12):1997-2003.
    • (1996) Hum Mol Genet , vol.5 , Issue.12 , pp. 1997-2003
    • Van Deutekom, K.1    Bakker, E.2    Lemmers, R.J.3    Van Der Wielen, M.J.4    Bik, E.5    Hofker, M.H.6    Padberg, G.W.7    Frants, R.R.8
  • 27
    • 0034840218 scopus 로고    scopus 로고
    • Improved characterization of FSHD mutations
    • Zhang Y, Forner J, Fournet S, Jeanpierre M. Improved characterization of FSHD mutations. Ann Genet 2001;44(2):105-10.
    • (2001) Ann Genet , vol.44 , Issue.2 , pp. 105-110
    • Zhang, Y.1    Forner, J.2    Fournet, S.3    Jeanpierre, M.4
  • 30
    • 0032541318 scopus 로고    scopus 로고
    • FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates
    • Grewal PK, Carim Todd L, van der Maarel S, Frants RR, Hewitt JE. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. Gene 1998;216:13-9.
    • (1998) Gene , vol.216 , pp. 13-19
    • Grewal, P.K.1    Carim Todd, L.2    Van Der Maarel, S.3    Frants, R.R.4    Hewitt, J.E.5
  • 32
    • 0032862871 scopus 로고    scopus 로고
    • The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements
    • Van Geel M, Heather U, Lyle R, Hewitt JE, Frants RR, de Jong PJ. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics 1999;61(1):55-65.
    • (1999) Genomics , vol.61 , Issue.1 , pp. 55-65
    • Van Geel, M.1    Heather, U.2    Lyle, R.3    Hewitt, J.E.4    Frants, R.R.5    De Jong, P.J.6
  • 33
    • 0029913283 scopus 로고    scopus 로고
    • Use of myoblast cultures to study mitochondrial myopathies
    • Shoubridge EA, Johns T, Baulet L. Use of myoblast cultures to study mitochondrial myopathies. Methods Enzymol 1996;264:465-75.
    • (1996) Methods Enzymol , vol.264 , pp. 465-475
    • Shoubridge, E.A.1    Johns, T.2    Baulet, L.3
  • 34
    • 0029834848 scopus 로고    scopus 로고
    • Muscle differentiation during repair of myocardial necrosis in rats via gene transfer with MyoD
    • Murry CE, Kay MA, Bartosek T, Hauschka SD, Schwartz SM. Muscle differentiation during repair of myocardial necrosis in rats via gene transfer with MyoD. J Clin Invest 1996;98(10):2209-17.
    • (1996) J Clin Invest , vol.98 , Issue.10 , pp. 2209-2217
    • Murry, C.E.1    Kay, M.A.2    Bartosek, T.3    Hauschka, S.D.4    Schwartz, S.M.5
  • 35
    • 0033608371 scopus 로고    scopus 로고
    • New possibilities for prenatal diagnosis of muscular dystrophies: Forced myogenesis with an adenoviral MyoD-vector
    • Roest PA, Bakker E, Fallaux FJ, Verellen-Dumoulin C, Murry CE, den Dunnen JT. New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector. Lancet 1999;353(9154):727-8.
    • (1999) Lancet , vol.353 , Issue.9154 , pp. 727-728
    • Roest, P.A.1    Bakker, E.2    Fallaux, F.J.3    Verellen-Dumoulin, C.4    Murry, C.E.5    Den Dunnen, J.T.6
  • 36
    • 0030580709 scopus 로고    scopus 로고
    • Two versatile eukaryotic vectors permitting epitope togging, radiolabelling and nuclear localisation of expressed proteins
    • Georgiev O, Bourquin JP, Gstaiger M, Knoepfel L, Schaffner W, Hovens C. Two versatile eukaryotic vectors permitting epitope togging, radiolabelling and nuclear localisation of expressed proteins. Gene 1996;168(2):165-7.
    • (1996) Gene , vol.168 , Issue.2 , pp. 165-167
    • Georgiev, O.1    Bourquin, J.P.2    Gstaiger, M.3    Knoepfel, L.4    Schaffner, W.5    Hovens, C.6
  • 37
    • 0031916105 scopus 로고    scopus 로고
    • PDZ motifs in PTP-BL and RIL bind to internal protein segments in the UM domain protein RIL
    • Cuppen E, Gerrits H, Pepers B, Wieringa B, Hendriks W. PDZ motifs in PTP-BL and RIL bind to internal protein segments in the UM domain protein RIL. Mol Biol Cell 1998;9(3):671-83.
    • (1998) Mol Biol Cell , vol.9 , Issue.3 , pp. 671-683
    • Cuppen, E.1    Gerrits, H.2    Pepers, B.3    Wieringa, B.4    Hendriks, W.5
  • 38
    • 0000477103 scopus 로고
    • Enzymatic synthesis of biotin labelled polynucleotides: Novel nucleic acid affinity probes
    • Langer PR, Waldrop AA, Ward DC. Enzymatic synthesis of biotin labelled polynucleotides: novel nucleic acid affinity probes. Proc Natl Acad Sci U S A 1981;78:6633-7.
    • (1981) Proc Natl Acad Sci U S A , vol.78 , pp. 6633-6637
    • Langer, P.R.1    Waldrop, A.A.2    Ward, D.C.3
  • 41
    • 0026769928 scopus 로고
    • Targeting efficiencies of various permutations of the consensus C-terminal tripeptide peroxisomal targeting signal
    • Swinkels BW, Gould SJ, Subramani S. Targeting efficiencies of various permutations of the consensus C-terminal tripeptide peroxisomal targeting signal. FEBS Lett 1992;305(2):133-6.
    • (1992) FEBS Lett , vol.305 , Issue.2 , pp. 133-136
    • Swinkels, B.W.1    Gould, S.J.2    Subramani, S.3
  • 43
    • 0036244955 scopus 로고    scopus 로고
    • The complex structure and dynamic evolution of human subtelomeres
    • Mefford HC, Trask BJ. The complex structure and dynamic evolution of human subtelomeres. Nat Rev Genet 2002;3(2):91-102.
    • (2002) Nat Rev Genet , vol.3 , Issue.2 , pp. 91-102
    • Mefford, H.C.1    Trask, B.J.2
  • 49
    • 0031034468 scopus 로고    scopus 로고
    • Two domains of MyoD mediate transcriptional activation of genes in repressive chromatin: A mechanism for lineage determination in myogenesis
    • Gerber AN, Klesert TR, Bergstrom DA, Tapscott SJ. Two domains of MyoD mediate transcriptional activation of genes in repressive chromatin: a mechanism for lineage determination in myogenesis. Genes Dev 1997;11(4):436-50.
    • (1997) Genes Dev , vol.11 , Issue.4 , pp. 436-450
    • Gerber, A.N.1    Klesert, T.R.2    Bergstrom, D.A.3    Tapscott, S.J.4
  • 50
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der MS, Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003;12(22):2909-21.
    • (2003) Hum Mol Genet , vol.12 , Issue.22 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    Van Overveld, P.G.3    Vedanarayanan, V.4    Van Der, M.S.5    Ehrlich, M.6
  • 51
    • 0033038008 scopus 로고    scopus 로고
    • Transvection and chromosomal trans-interaction effects
    • Pirrotta V. Transvection and chromosomal trans-interaction effects. Biochim Biophys Acta 1999;1424(1):1-8.
    • (1999) Biochim Biophys Acta , vol.1424 , Issue.1 , pp. 1-8
    • Pirrotta, V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.