-
1
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt JE, Lyle R, Clark LN, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet. 1994; 3: 1287-95.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
-
2
-
-
0029113034
-
The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes
-
Lyle R, Wright TJ, Clark LN, et al. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics. 1995; 28: 389-97.
-
(1995)
Genomics
, vol.28
, pp. 389-397
-
-
Lyle, R.1
Wright, T.J.2
Clark, L.N.3
-
3
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992; 2: 26-30.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
-
4
-
-
0030009384
-
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy
-
Tupler R, Berardinelli A, Barbierato L, et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet. 1996; 33: 366-70.
-
(1996)
J Med Genet
, vol.33
, pp. 366-370
-
-
Tupler, R.1
Berardinelli, A.2
Barbierato, L.3
-
5
-
-
78149236255
-
Clinical features of facioscapulohumeral muscular dystrophy 2
-
de Greef JC, Lemmers RJLF, Camaño P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010; 75: 1548-54.
-
(2010)
Neurology
, vol.75
, pp. 1548-1554
-
-
de Greef, J.C.1
Lemmers, R.J.L.F.2
Camaño, P.3
-
6
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
de Greef JC, Lemmers RJLF, van Engelen BGM, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009; 30: 1449-59.
-
(2009)
Hum Mutat
, vol.30
, pp. 1449-1459
-
-
de Greef, J.C.1
Lemmers, R.J.L.F.2
van Engelen, B.G.M.3
-
7
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld PGM, Lemmers RJFL, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet. 2003; 35: 315-7.
-
(2003)
Nat Genet
, vol.35
, pp. 315-317
-
-
van Overveld, P.G.M.1
Lemmers, R.J.F.L.2
Sandkuijl, L.A.3
-
8
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
Gabriëls J, Beckers MC, 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. 1999; 236: 25-32.
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriëls, J.1
Beckers, M.C.2
Ding, H.3
-
9
-
-
36749026295
-
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. 2007; 104: 18157-62.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
-
10
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers RJLF, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010; 329: 1650-3.
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.L.F.1
van der Vliet, P.J.2
Klooster, R.3
-
11
-
-
78449250235
-
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
-
Snider L, Geng LN, Lemmers RJLF, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010; 6: e1001181.
-
(2010)
PLoS Genet
, vol.6
-
-
Snider, L.1
Geng, L.N.2
Lemmers, R.J.L.F.3
-
13
-
-
77949318270
-
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation
-
Ansseau E, Laoudj-Chenivesse D, Marcowycz A, et al. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS ONE. 2009; 4: e7482.
-
(2009)
PLoS ONE
, vol.4
-
-
Ansseau, E.1
Laoudj-Chenivesse, D.2
Marcowycz, A.3
-
14
-
-
53949112045
-
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation
-
Bosnakovski D, Lamb S, Simsek T, et al. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol. 2008; 214: 87-96.
-
(2008)
Exp Neurol
, vol.214
, pp. 87-96
-
-
Bosnakovski, D.1
Lamb, S.2
Simsek, T.3
-
15
-
-
84455169950
-
The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy
-
Dmitriev P, Petrov A, Ansseau E, et al. The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem. 2011; 286: 44620-31.
-
(2011)
J Biol Chem
, vol.286
, pp. 44620-44631
-
-
Dmitriev, P.1
Petrov, A.2
Ansseau, E.3
-
16
-
-
58849093548
-
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy
-
Dmitriev P, Lipinski M, Vassetzky YS. Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009; 19: 17-20.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 17-20
-
-
Dmitriev, P.1
Lipinski, M.2
Vassetzky, Y.S.3
-
17
-
-
34447104322
-
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. 2007; 17: 611-23.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
-
18
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008; 27: 2766-79.
-
(2008)
EMBO J
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
Xu, Z.2
Gang, E.J.3
-
19
-
-
80055040201
-
The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
-
Vanderplanck C, Ansseau E, Charron S, et al. The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression. PLoS ONE. 2011; 6: e26820.
-
(2011)
PLoS ONE
, vol.6
-
-
Vanderplanck, C.1
Ansseau, E.2
Charron, S.3
-
20
-
-
84859514536
-
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
-
Richards M, Coppée F, Thomas N, et al. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet. 2012; 131: 325-40.
-
(2012)
Hum Genet
, vol.131
, pp. 325-340
-
-
Richards, M.1
Coppée, F.2
Thomas, N.3
-
21
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy
-
Geng LN, Yao Z, Snider L, et al. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell. 2012; 22: 38-51.
-
(2012)
Dev Cell
, vol.22
, pp. 38-51
-
-
Geng, L.N.1
Yao, Z.2
Snider, L.3
-
22
-
-
80055062000
-
Characterization of a tet-repressible muscle-specific Pitx1 transgenic mouse model as an animal model of FSHD
-
Dixit M, Shi R, Sutherland M, et al. Characterization of a tet-repressible muscle-specific Pitx1 transgenic mouse model as an animal model of FSHD. FASEB Journal. 2007; 21: 870-8.
-
(2007)
FASEB Journal
, vol.21
, pp. 870-878
-
-
Dixit, M.1
Shi, R.2
Sutherland, M.3
-
23
-
-
79953292473
-
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
-
Wallace LM, Garwick SE, Mei W, et al. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011; 69: 540-52.
-
(2011)
Ann Neurol
, vol.69
, pp. 540-552
-
-
Wallace, L.M.1
Garwick, S.E.2
Mei, W.3
-
24
-
-
77951954873
-
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects
-
Barro M, Carnac G, Flavier S, et al. Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med. 2010; 14: 275-89.
-
(2010)
J Cell Mol Med
, vol.14
, pp. 275-289
-
-
Barro, M.1
Carnac, G.2
Flavier, S.3
-
25
-
-
0032167516
-
Transcription occurs in pulses in muscle fibers
-
Newlands S, Levitt LK, Robinson CS, et al. Transcription occurs in pulses in muscle fibers. Genes Dev. 1998; 12: 2748-58.
-
(1998)
Genes Dev
, vol.12
, pp. 2748-2758
-
-
Newlands, S.1
Levitt, L.K.2
Robinson, C.S.3
-
26
-
-
0024340817
-
Transfer of a protein encoded by a single nucleus to nearby nuclei in multinucleated myotubes
-
Ralston E, Hall ZW. Transfer of a protein encoded by a single nucleus to nearby nuclei in multinucleated myotubes. Science. 1989; 244: 1066-9.
-
(1989)
Science
, vol.244
, pp. 1066-1069
-
-
Ralston, E.1
Hall, Z.W.2
-
27
-
-
0028090780
-
Limited diffusibility of gene products directed by a single nucleus in the cytoplasm of multinucleated myofibres
-
Ono T, Ono K, Mizukawa K, et al. Limited diffusibility of gene products directed by a single nucleus in the cytoplasm of multinucleated myofibres. FEBS Lett. 1994; 337: 18-22.
-
(1994)
FEBS Lett
, vol.337
, pp. 18-22
-
-
Ono, T.1
Ono, K.2
Mizukawa, K.3
-
28
-
-
0032760124
-
Patterns of repair of dystrophic mouse muscle: studies on isolated fibers
-
Blaveri K, Heslop L, Yu DS, et al. Patterns of repair of dystrophic mouse muscle: studies on isolated fibers. Dev Dyn. 1999; 216: 244-56.
-
(1999)
Dev Dyn
, vol.216
, pp. 244-256
-
-
Blaveri, K.1
Heslop, L.2
Yu, D.S.3
-
29
-
-
0036243669
-
High performance two-dimensional gel electrophoresis using a wetting agent Tergitol NP7
-
Laoudj-Chenivesse D, Marin P, Bennes R, et al. High performance two-dimensional gel electrophoresis using a wetting agent Tergitol NP7. Proteomics. 2002; 2: 481-5.
-
(2002)
Proteomics
, vol.2
, pp. 481-485
-
-
Laoudj-Chenivesse, D.1
Marin, P.2
Bennes, R.3
-
30
-
-
0030949897
-
Limitations of nls beta-galactosidase as a marker for studying myogenic lineage or the efficacy of myoblast transfer
-
Yang J, Ontell MP, Kelly R, et al. Limitations of nls beta-galactosidase as a marker for studying myogenic lineage or the efficacy of myoblast transfer. Anat Rec. 1997; 248: 40-50.
-
(1997)
Anat Rec
, vol.248
, pp. 40-50
-
-
Yang, J.1
Ontell, M.P.2
Kelly, R.3
-
31
-
-
0030200110
-
PEST sequences and regulation by proteolysis
-
Rechsteiner M, Rogers SW. PEST sequences and regulation by proteolysis. Trends Biochem Sci. 1996; 21: 267-71.
-
(1996)
Trends Biochem Sci
, vol.21
, pp. 267-271
-
-
Rechsteiner, M.1
Rogers, S.W.2
-
32
-
-
8844271878
-
The DUX gene family and FSHD
-
Upadhyaya M, Cooper D, eds. Oxon: United Kingdom
-
Coppée F, Mattéotti C, Ansseau E, et al. The DUX gene family and FSHD. In: Upadhyaya M, Cooper D, eds. Facioscapulohumeral muscular dystrophy: clinical medecine and molecular cell biology. Oxon: United Kingdom, 2004:117-34.
-
(2004)
Facioscapulohumeral muscular dystrophy: clinical medecine and molecular cell biology
, pp. 117-134
-
-
Coppée, F.1
Mattéotti, C.2
Ansseau, E.3
-
33
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
-
Jones TI, Chen JCJ, Rahimov F, et al. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012; 21: 4419-30.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4419-4430
-
-
Jones, T.I.1
Chen, J.C.J.2
Rahimov, F.3
-
34
-
-
38049094992
-
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, Allinne J, Pirozhkova I, 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. 2008; 18: 39-45.
-
(2008)
Genome Res
, vol.18
, pp. 39-45
-
-
Petrov, A.1
Allinne, J.2
Pirozhkova, I.3
-
35
-
-
0345227304
-
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 PGM, 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. 2003; 12: 2909-21.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
Yang, F.2
van Overveld, P.G.M.3
-
36
-
-
77958029730
-
D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells
-
Ottaviani A, Schluth-Bolard C, Gilson E, et al. D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells. Nucleus. 2010; 1: 30-6.
-
(2010)
Nucleus
, vol.1
, pp. 30-36
-
-
Ottaviani, A.1
Schluth-Bolard, C.2
Gilson, E.3
-
37
-
-
84860885909
-
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
-
Cabianca DS, Casa V, Bodega B, et al. A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy. Cell. 2012; 149: 819-31.
-
(2012)
Cell
, vol.149
, pp. 819-831
-
-
Cabianca, D.S.1
Casa, V.2
Bodega, B.3
-
38
-
-
35548949865
-
Transcriptional activation of p53 by Pitx1
-
Liu DX, Lobie PE. Transcriptional activation of p53 by Pitx1. Cell Death Differ. 2007; 14: 1893-907.
-
(2007)
Cell Death Differ
, vol.14
, pp. 1893-1907
-
-
Liu, D.X.1
Lobie, P.E.2
-
39
-
-
84865679748
-
Deciphering transcription dysregulation in FSH muscular dystrophy
-
Ehrlich M, Lacey M. Deciphering transcription dysregulation in FSH muscular dystrophy. J Hum Genet. 2012; 57: 477-84.
-
(2012)
J Hum Genet
, vol.57
, pp. 477-484
-
-
Ehrlich, M.1
Lacey, M.2
-
40
-
-
33745283008
-
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. 2006; 15: 2125-37.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2125-2137
-
-
Kawamura-Saito, M.1
Yamazaki, Y.2
Kaneko, K.3
-
41
-
-
9644302406
-
Productive RUPture: activation of transcription factors by proteasomal processing
-
Rape M, Jentsch S. Productive RUPture: activation of transcription factors by proteasomal processing. Biochim Biophys Acta. 2004; 1695: 209-13.
-
(2004)
Biochim Biophys Acta
, vol.1695
, pp. 209-213
-
-
Rape, M.1
Jentsch, S.2
-
42
-
-
33847077659
-
Beyond the sequence: cellular organization of genome function
-
Misteli T. Beyond the sequence: cellular organization of genome function. Cell. 2007; 128: 787-800.
-
(2007)
Cell
, vol.128
, pp. 787-800
-
-
Misteli, T.1
-
43
-
-
78149466365
-
DNA binding sites target nuclear NFATc1 to heterochromatin regions in adult skeletal muscle fibers
-
Shen T, Liu Y, Contreras M, et al. DNA binding sites target nuclear NFATc1 to heterochromatin regions in adult skeletal muscle fibers. Histochem Cell Biol. 2010; 134: 387-402.
-
(2010)
Histochem Cell Biol
, vol.134
, pp. 387-402
-
-
Shen, T.1
Liu, Y.2
Contreras, M.3
-
44
-
-
0001009066
-
Maintenance of ambulation in childhood muscular dystrophy
-
Vignos PJ Jr, Archibald KC. Maintenance of ambulation in childhood muscular dystrophy. J Chronic Dis. 1960; 12: 273-90.
-
(1960)
J Chronic Dis
, vol.12
, pp. 273-290
-
-
Vignos Jr., P.J.1
Archibald, K.C.2
-
45
-
-
0019522162
-
Clinical trial in Duchenne dystrophy. I. The design of the protocol
-
Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981; 4: 186-97.
-
(1981)
Muscle Nerve
, vol.4
, pp. 186-197
-
-
Brooke, M.H.1
Griggs, R.C.2
Mendell, J.R.3
|