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Volumn 19, Issue 1, 2009, Pages 17-20

Pearls in the junk: Dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

Author keywords

Chromatin; D4Z4; DUX4; Facioscapulohumeral dystrophy; Transcriptional regulation

Indexed keywords

CHROMOSOME 4Q; DOUBLE HOMEOBOX 4 CENTROMERIC GENE; DOUBLE HOMEOBOX 4 GENE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; REVIEW;

EID: 58849093548     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.09.004     Document Type: Review
Times cited : (29)

References (60)
  • 1
    • 0001016345 scopus 로고
    • The composition of the deoxyribonucleic acid of salmon sperm
    • Chargaff E., Lipshitz R., Green C., and Hodes M.E. The composition of the deoxyribonucleic acid of salmon sperm. J Biol Chem 192 (1951) 223-230
    • (1951) J Biol Chem , vol.192 , pp. 223-230
    • Chargaff, E.1    Lipshitz, R.2    Green, C.3    Hodes, M.E.4
  • 2
    • 84983711696 scopus 로고
    • Studies on the Chemical Nature of the Substance Inducing Transformation of Pneumococcal Types: Induction of Transformation by A Desoxyribonucleic Acid Fraction Isolated from Pneumococcus Type III
    • Avery O.T., MacLeod C.M., and McCarty M. Studies on the Chemical Nature of the Substance Inducing Transformation of Pneumococcal Types: Induction of Transformation by A Desoxyribonucleic Acid Fraction Isolated from Pneumococcus Type III. J Exp Med 79 (1944) 137-158
    • (1944) J Exp Med , vol.79 , pp. 137-158
    • Avery, O.T.1    MacLeod, C.M.2    McCarty, M.3
  • 3
    • 0002610948 scopus 로고
    • Independent functions of viral protein and nucleic acid in growth of bacteriophage
    • Hershey A.D., and Chase M. Independent functions of viral protein and nucleic acid in growth of bacteriophage. J Gen Physiol 36 (1952) 39-56
    • (1952) J Gen Physiol , vol.36 , pp. 39-56
    • Hershey, A.D.1    Chase, M.2
  • 4
    • 0038497542 scopus 로고
    • Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid
    • Watson J.D., and Crick F.H. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171 (1953) 737-738
    • (1953) Nature , vol.171 , pp. 737-738
    • Watson, J.D.1    Crick, F.H.2
  • 5
    • 0014662980 scopus 로고
    • Gene duplication and nucleotide substitution in evolution
    • Nei M. Gene duplication and nucleotide substitution in evolution. Nature 221 (1969) 40-42
    • (1969) Nature , vol.221 , pp. 40-42
    • Nei, M.1
  • 6
    • 0014424531 scopus 로고
    • How different are the DNAs from related animals?
    • Walker P.M.B. How different are the DNAs from related animals?. Nature 219 (1968) 228-232
    • (1968) Nature , vol.219 , pp. 228-232
    • Walker, P.M.B.1
  • 7
    • 0015271630 scopus 로고
    • So much "junk" DNA in our genome
    • Ohno S. So much "junk" DNA in our genome. Brookhaven Symp Biol 23 (1972) 366-370
    • (1972) Brookhaven Symp Biol , vol.23 , pp. 366-370
    • Ohno, S.1
  • 8
    • 0020417286 scopus 로고
    • Self-splicing RNA: autoexcision and autocyclization of the ribosomal RNA intervening sequence of Tetrahymena
    • Kruger K., Grabowski P.J., Zaug A.J., et al. Self-splicing RNA: autoexcision and autocyclization of the ribosomal RNA intervening sequence of Tetrahymena. Cell 31 (1982) 147-157
    • (1982) Cell , vol.31 , pp. 147-157
    • Kruger, K.1    Grabowski, P.J.2    Zaug, A.J.3
  • 9
    • 0021675784 scopus 로고
    • Organization of the higher-order chromatin loop: specific DNA attachment sites on nuclear scaffold
    • Mirkovitch J., Mirault M.E., and Laemmli U.K. Organization of the higher-order chromatin loop: specific DNA attachment sites on nuclear scaffold. Cell 39 (1984) 223-232
    • (1984) Cell , vol.39 , pp. 223-232
    • Mirkovitch, J.1    Mirault, M.E.2    Laemmli, U.K.3
  • 10
    • 0022553738 scopus 로고
    • Chromosomal loop anchorage of the kappa immunoglobulin gene occurs next to the enhancer in a region containing topoisomerase II sites
    • Cockerill P.N., and Garrard W.T. Chromosomal loop anchorage of the kappa immunoglobulin gene occurs next to the enhancer in a region containing topoisomerase II sites. Cell 44 (1986) 273-282
    • (1986) Cell , vol.44 , pp. 273-282
    • Cockerill, P.N.1    Garrard, W.T.2
  • 11
    • 0021708253 scopus 로고
    • A protein binds to a satellite DNA repeat at three specific sites that would be brought into mutual proximity by DNA folding in the nucleosome
    • Strauss F., and Varshavsky A. A protein binds to a satellite DNA repeat at three specific sites that would be brought into mutual proximity by DNA folding in the nucleosome. Cell 37 (1984) 889-901
    • (1984) Cell , vol.37 , pp. 889-901
    • Strauss, F.1    Varshavsky, A.2
  • 12
    • 0025279931 scopus 로고
    • Telomeres shorten during ageing of human fibroblasts
    • Harley C.B., Futcher A.B., and Greider C.W. Telomeres shorten during ageing of human fibroblasts. Nature 345 (1990) 458-460
    • (1990) Nature , vol.345 , pp. 458-460
    • Harley, C.B.1    Futcher, A.B.2    Greider, C.W.3
  • 13
    • 0038414560 scopus 로고    scopus 로고
    • An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene
    • Hirotsune S., Yoshida N., Chen A., et al. An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene. Nature 423 (2003) 91-96
    • (2003) Nature , vol.423 , pp. 91-96
    • Hirotsune, S.1    Yoshida, N.2    Chen, A.3
  • 14
    • 0002549081 scopus 로고
    • De la myopathie atrophique progressive
    • Landouzy L., and Dejerine J. De la myopathie atrophique progressive. Rev Med Franc 5 (1885) 81-99
    • (1885) Rev Med Franc , vol.5 , pp. 81-99
    • Landouzy, L.1    Dejerine, J.2
  • 15
    • 33748573261 scopus 로고    scopus 로고
    • Severe phenotype in infantile facioscapulohumeral muscular dystrophy
    • Klinge L., Eagle M., Haggerty I.D., et al. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord 16 (2006) 553-558
    • (2006) Neuromuscul Disord , vol.16 , pp. 553-558
    • Klinge, L.1    Eagle, M.2    Haggerty, I.D.3
  • 17
    • 77951954873 scopus 로고    scopus 로고
    • Myoblasts from affected and non affected FSHD muscles exhibit morphological differentiation defects
    • 10.1111/j.1582-4934.2008.00368.x
    • Barro M., Carnac G., Flavier S., Mercier J., Vassetzky Y., and Laoudj-Chenivesse D. Myoblasts from affected and non affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med (2008) 10.1111/j.1582-4934.2008.00368.x
    • (2008) J Cell Mol Med
    • Barro, M.1    Carnac, G.2    Flavier, S.3    Mercier, J.4    Vassetzky, Y.5    Laoudj-Chenivesse, D.6
  • 18
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
    • Wijmenga C., Hewitt J.E., Sandkuijl L.A., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2 (1992) 26-30
    • (1992) Nat Genet , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 19
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
    • van Deutekom J.C., Wijmenga C., van Tienhoven E.A., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2 (1993) 2037-2042
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • van Deutekom, J.C.1    Wijmenga, C.2    van Tienhoven, E.A.3
  • 20
    • 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 S.T., Bengtsson U., Feddersen J., et al. 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 2 (1994) 225-234
    • (1994) Chromosome Res , vol.2 , pp. 225-234
    • Winokur, S.T.1    Bengtsson, U.2    Feddersen, J.3
  • 21
    • 0028040601 scopus 로고
    • Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
    • Hewitt J.E., Lyle R., Clark L.N., et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3 (1994) 1287-1295
    • (1994) Hum Mol Genet , vol.3 , pp. 1287-1295
    • Hewitt, J.E.1    Lyle, R.2    Clark, L.N.3
  • 23
    • 0344436078 scopus 로고    scopus 로고
    • Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
    • Gabriels J., Beckers M.C., Ding H., et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 236 (1999) 25-32
    • (1999) Gene , vol.236 , pp. 25-32
    • Gabriels, J.1    Beckers, M.C.2    Ding, H.3
  • 24
    • 0037468461 scopus 로고    scopus 로고
    • Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
    • Yip D.J., and Picketts D.J. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett 537 (2003) 133-138
    • (2003) FEBS Lett , vol.537 , pp. 133-138
    • Yip, D.J.1    Picketts, D.J.2
  • 25
    • 0344875044 scopus 로고    scopus 로고
    • Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    • Winokur S.T., Chen Y.W., Masny P.S., et al. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12 (2003) 2895-2907
    • (2003) Hum Mol Genet , vol.12 , pp. 2895-2907
    • Winokur, S.T.1    Chen, Y.W.2    Masny, P.S.3
  • 26
    • 33847234593 scopus 로고    scopus 로고
    • Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
    • Osborne R.J., Welle S., Venance S.L., Thornton C.A., and Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68 (2007) 569-577
    • (2007) Neurology , vol.68 , pp. 569-577
    • Osborne, R.J.1    Welle, S.2    Venance, S.L.3    Thornton, C.A.4    Tawil, R.5
  • 27
    • 33846433695 scopus 로고    scopus 로고
    • RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA
    • Alexiadis V., Ballestas M.E., Sanchez C., et al. RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. Biochim Biophys Acta 1769 (2007) 29-40
    • (2007) Biochim Biophys Acta , vol.1769 , pp. 29-40
    • Alexiadis, V.1    Ballestas, M.E.2    Sanchez, C.3
  • 29
    • 33845880871 scopus 로고    scopus 로고
    • RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy
    • Macaione V., Aguennouz M., Rodolico C., et al. RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy. Acta Neurol Scand 115 (2007) 115-121
    • (2007) Acta Neurol Scand , vol.115 , pp. 115-121
    • Macaione, V.1    Aguennouz, M.2    Rodolico, C.3
  • 30
    • 0026022784 scopus 로고
    • Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease
    • Slipetz D.M., Aprille J.R., Goodyer P.R., and Rozen R. Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease. Am J Hum Genet 48 (1991) 502-510
    • (1991) Am J Hum Genet , vol.48 , pp. 502-510
    • Slipetz, D.M.1    Aprille, J.R.2    Goodyer, P.R.3    Rozen, R.4
  • 31
    • 32644441628 scopus 로고    scopus 로고
    • Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
    • Bakay M., Wang Z., Melcon G., et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 129 (2006) 996-1013
    • (2006) Brain , vol.129 , pp. 996-1013
    • Bakay, M.1    Wang, Z.2    Melcon, G.3
  • 32
    • 33749605124 scopus 로고    scopus 로고
    • Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes
    • Celegato B., Capitanio D., Pescatori M., et al. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 6 (2006) 5303-5321
    • (2006) Proteomics , vol.6 , pp. 5303-5321
    • Celegato, B.1    Capitanio, D.2    Pescatori, M.3
  • 33
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D., Green M.R., and Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110 (2002) 339-348
    • (2002) Cell , vol.110 , pp. 339-348
    • Gabellini, D.1    Green, M.R.2    Tupler, R.3
  • 34
    • 33644522383 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
    • Gabellini D., D'Antona G., Moggio M., et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439 (2005) 973-977
    • (2005) Nature , vol.439 , pp. 973-977
    • Gabellini, D.1    D'Antona, G.2    Moggio, M.3
  • 35
    • 8744240156 scopus 로고    scopus 로고
    • FRG2, an FSHD candidate gene is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
    • Rijkers T., Deidda G., van Koningsbruggen S., et al. FRG2, an FSHD candidate gene is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 41 (2004) 826-836
    • (2004) J Med Genet , vol.41 , pp. 826-836
    • Rijkers, T.1    Deidda, G.2    van Koningsbruggen, S.3
  • 36
    • 16844364725 scopus 로고    scopus 로고
    • Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
    • Laoudj-Chenivesse D., Carnac G., Bisbal C., et al. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83 (2005) 216-224
    • (2005) J Mol Med , vol.83 , pp. 216-224
    • Laoudj-Chenivesse, D.1    Carnac, G.2    Bisbal, C.3
  • 37
    • 33846589302 scopus 로고    scopus 로고
    • FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
    • van Koningsbruggen S., Straasheijm K.R., Sterrenburg E., et al. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma 116 (2007) 53-64
    • (2007) Chromosoma , vol.116 , pp. 53-64
    • van Koningsbruggen, S.1    Straasheijm, K.R.2    Sterrenburg, E.3
  • 38
    • 27444433840 scopus 로고    scopus 로고
    • The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease
    • Sharer J.D. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life 57 (2005) 607-614
    • (2005) IUBMB Life , vol.57 , pp. 607-614
    • Sharer, J.D.1
  • 39
    • 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 P.G., et al. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 12 (2003) 2909-2921
    • (2003) Hum Mol Genet , vol.12 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    van Overveld, P.G.3
  • 40
    • 36749026295 scopus 로고    scopus 로고
    • DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
    • Dixit M., Ansseau E., Tassin A., et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 104 (2007) 18157-18162
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 18157-18162
    • Dixit, M.1    Ansseau, E.2    Tassin, A.3
  • 41
    • 34547754037 scopus 로고    scopus 로고
    • Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy
    • Clapp J., Mitchell L.M., Bolland D.J., et al. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 81 (2007) 264-279
    • (2007) Am J Hum Genet , vol.81 , pp. 264-279
    • Clapp, J.1    Mitchell, L.M.2    Bolland, D.J.3
  • 42
    • 34447104322 scopus 로고    scopus 로고
    • The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
    • Kowaljow V., Marcowycz A., Ansseau E., et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 17 (2007) 611-623
    • (2007) Neuromuscul Disord , vol.17 , pp. 611-623
    • Kowaljow, V.1    Marcowycz, A.2    Ansseau, E.3
  • 43
    • 0036788610 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
    • Lemmers R.J., de Kievit P., Sandkuijl L., et al. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32 (2002) 235-236
    • (2002) Nat Genet , vol.32 , pp. 235-236
    • Lemmers, R.J.1    de Kievit, P.2    Sandkuijl, L.3
  • 45
    • 33745283008 scopus 로고    scopus 로고
    • Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation
    • Kawamura-Saito M., Yamazaki Y., Kaneko K., et al. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet 15 (2006) 2125-2137
    • (2006) Hum Mol Genet , vol.15 , pp. 2125-2137
    • Kawamura-Saito, M.1    Yamazaki, Y.2    Kaneko, K.3
  • 46
    • 58849120219 scopus 로고    scopus 로고
    • E. Ansseau, A. Marcowycz, D. Laoudj-Chenivesse, et al., Characterization of the DUX4c gene located within a repeated element 42 kb proximal to the FSHD locus, 2008, submitted for publication.
    • E. Ansseau, A. Marcowycz, D. Laoudj-Chenivesse, et al., Characterization of the DUX4c gene located within a repeated element 42 kb proximal to the FSHD locus, 2008, submitted for publication.
  • 47
    • 0032555944 scopus 로고    scopus 로고
    • The muscle regulatory factors MyoD and myf-5 undergo distinct cell cycle-specific expression in muscle cells
    • Kitzmann M., Carnac G., Vandromme M., et al. The muscle regulatory factors MyoD and myf-5 undergo distinct cell cycle-specific expression in muscle cells. J Cell Biol 142 (1998) 1447-1459
    • (1998) J Cell Biol , vol.142 , pp. 1447-1459
    • Kitzmann, M.1    Carnac, G.2    Vandromme, M.3
  • 48
    • 0038458638 scopus 로고    scopus 로고
    • D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection
    • Lemmers R.J., Osborn M., Haaf T., et al. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 61 (2003) 178-183
    • (2003) Neurology , vol.61 , pp. 178-183
    • Lemmers, R.J.1    Osborn, M.2    Haaf, T.3
  • 49
    • 7344231685 scopus 로고    scopus 로고
    • Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
    • Lemmers R.J., van der Maarel S.M., van Deutekom J.C., et al. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 7 (1998) 1207-1214
    • (1998) Hum Mol Genet , vol.7 , pp. 1207-1214
    • Lemmers, R.J.1    van der Maarel, S.M.2    van Deutekom, J.C.3
  • 50
    • 33847205674 scopus 로고    scopus 로고
    • Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4
    • Deak K.L., Lemmers R.J., Stajich J.M., et al. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology 68 (2007) 578-582
    • (2007) Neurology , vol.68 , pp. 578-582
    • Deak, K.L.1    Lemmers, R.J.2    Stajich, J.M.3
  • 51
    • 9444294990 scopus 로고    scopus 로고
    • Genetics and epigenetics of progressive fascioscapulohumeral (Landouzy-Dejerine) muscular dystrophy
    • Petrov A.P., Laoudj D., and Vassetzky Y.S. Genetics and epigenetics of progressive fascioscapulohumeral (Landouzy-Dejerine) muscular dystrophy. Genetics (Moscow) 39 (2003) 147-151
    • (2003) Genetics (Moscow) , vol.39 , pp. 147-151
    • Petrov, A.P.1    Laoudj, D.2    Vassetzky, Y.S.3
  • 52
    • 38049094992 scopus 로고    scopus 로고
    • A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy
    • Petrov A.V., Allinne J., Pirozhkova I.V., et al. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res 18 (2008) 39-45
    • (2008) Genome Res , vol.18 , pp. 39-45
    • Petrov, A.V.1    Allinne, J.2    Pirozhkova, I.V.3
  • 53
    • 33646485687 scopus 로고    scopus 로고
    • Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
    • Petrov A., Pirozhkova I., Laoudj D., et al. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc. Natl. Acad. Sci. USA 103 (2006) 6982-6987
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 6982-6987
    • Petrov, A.1    Pirozhkova, I.2    Laoudj, D.3
  • 54
    • 58849144831 scopus 로고    scopus 로고
    • Pirozhkova I, Petrov A, Laoudj D, Lipinski M, VassetzkyYS. Spatial organization of the 4q35 locus suggests a role for 4qA/4qB marker in FSHD, Plos One, 2008, in press.
    • Pirozhkova I, Petrov A, Laoudj D, Lipinski M, VassetzkyYS. Spatial organization of the 4q35 locus suggests a role for 4qA/4qB marker in FSHD, Plos One, 2008, in press.
  • 55
    • 35348907287 scopus 로고    scopus 로고
    • Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
    • Lemmers R.J., Wohlgemuth M., van der Gaag K.J., et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 81 (2007) 884-894
    • (2007) Am J Hum Genet , vol.81 , pp. 884-894
    • Lemmers, R.J.1    Wohlgemuth, M.2    van der Gaag, K.J.3
  • 56
    • 0345257778 scopus 로고    scopus 로고
    • Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    • van Overveld P.G., Lemmers R.J., Sandkuijl L.A., et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35 (2003) 315-317
    • (2003) Nat Genet , vol.35 , pp. 315-317
    • van Overveld, P.G.1    Lemmers, R.J.2    Sandkuijl, L.A.3
  • 57
    • 34548392207 scopus 로고    scopus 로고
    • Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
    • de Greef J.C., Wohlgemuth M., Chan O.A., et al. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology 69 (2007) 1018-1026
    • (2007) Neurology , vol.69 , pp. 1018-1026
    • de Greef, J.C.1    Wohlgemuth, M.2    Chan, O.A.3
  • 58
    • 0342316480 scopus 로고    scopus 로고
    • Origin roles of nuclear matrix proteins. Specific functions of the MAR-binding protein MeCP2/ARBP
    • Stratling W.H., and Yu F. Origin roles of nuclear matrix proteins. Specific functions of the MAR-binding protein MeCP2/ARBP. Crit Rev Eukaryot Gene Expr 9 (1999) 311-318
    • (1999) Crit Rev Eukaryot Gene Expr , vol.9 , pp. 311-318
    • Stratling, W.H.1    Yu, F.2
  • 59
    • 11244328520 scopus 로고    scopus 로고
    • Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
    • Horike S., Cai S., Miyano M., Cheng J.F., and Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37 (2005) 31-40
    • (2005) Nat Genet , vol.37 , pp. 31-40
    • Horike, S.1    Cai, S.2    Miyano, M.3    Cheng, J.F.4    Kohwi-Shigematsu, T.5
  • 60
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo T., del Gaudio D., German J.R., et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40 (2008) 719-721
    • (2008) Nat Genet , vol.40 , pp. 719-721
    • Sahoo, T.1    del Gaudio, D.2    German, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.