-
1
-
-
0037047439
-
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
10.1016/S0092-8674(02)00826-7, 12176321
-
Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002, 110:339-348. 10.1016/S0092-8674(02)00826-7, 12176321.
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
2
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
-
10.1371/journal.pgen.1000559, 2700282, 19593370
-
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 2009, 5:e1000559. 10.1371/journal.pgen.1000559, 2700282, 19593370.
-
(2009)
PLoS Genet
, vol.5
-
-
Zeng, W.1
de Greef, J.C.2
Chen, Y.Y.3
Chien, R.4
Kong, X.5
Gregson, H.C.6
Winokur, S.T.7
Pyle, A.8
Robertson, K.D.9
Schmiesing, J.A.10
Kimonis, V.E.11
Balog, J.12
Frants, R.R.13
Ball, A.R.14
Lock, L.F.15
Donovan, P.J.16
van der Maarel, S.M.17
Yokomori, K.18
-
3
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
10.1038/ng1262, 14634647
-
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003, 35:315-317. 10.1038/ng1262, 14634647.
-
(2003)
Nat Genet
, vol.35
, pp. 315-317
-
-
van Overveld, P.G.1
Lemmers, R.J.2
Sandkuijl, L.A.3
Enthoven, L.4
Winokur, S.T.5
Bakels, F.6
Padberg, G.W.7
van Ommen, G.J.8
Frants, R.R.9
van der Maarel, S.M.10
-
4
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
10.1002/humu.21091, 19728363
-
de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 2009, 30:1449-1459. 10.1002/humu.21091, 19728363.
-
(2009)
Hum Mutat
, vol.30
, pp. 1449-1459
-
-
de Greef, J.C.1
Lemmers, R.J.2
van Engelen, B.G.3
Sacconi, S.4
Venance, S.L.5
Frants, R.R.6
Tawil, R.7
van der Maarel, S.M.8
-
5
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
10.1038/ng0992-26, 1363881
-
Wijmenga C, Hewitt JE, Sandkiujl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, van Ommen GB, Padberg GW, Frants RR. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992, 2:26-30. 10.1038/ng0992-26, 1363881.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkiujl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
Gruter, A.M.7
Hofker, M.H.8
Moerer, P.9
Williamson, R.10
van Ommen, G.B.11
Padberg, G.W.12
Frants, R.R.13
-
6
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
10.1093/hmg/2.12.2037, 8111371
-
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-2042. 10.1093/hmg/2.12.2037, 8111371.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
Gruter, A.M.4
Hewitt, J.E.5
Padberg, G.W.6
van Ommen, G.J.7
Hofker, M.H.8
Frants, R.R.9
-
7
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
10.1038/ng.2454, 3671095, 23143600
-
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012, 44:1370-1374. 10.1038/ng.2454, 3671095, 23143600.
-
(2012)
Nat Genet
, vol.44
, pp. 1370-1374
-
-
Lemmers, R.J.1
Tawil, R.2
Petek, L.M.3
Balog, J.4
Block, G.J.5
Santen, G.W.6
Amell, A.M.7
van der Vliet, P.J.8
Almomani, R.9
Straasheijm, K.R.10
Krom, Y.D.11
Klooster, R.12
Sun, Y.13
Den Dunnen, J.T.14
Helmer, Q.15
Donlin-Smith, C.M.16
Padberg, G.W.17
van Engelen, B.G.18
de Greef, J.C.19
Aartsma-Rus, A.M.20
Frants, R.R.21
de Visser, M.22
Desnuelle, C.23
Sacconi, S.24
Filippova, G.N.25
Bakker, B.26
Bamshad, M.J.27
Tapscott, S.J.28
Miller, D.G.29
van der Maarel, S.M.30
more..
-
8
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
10.1086/521986, 2265642, 17924332
-
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007, 81:884-894. 10.1086/521986, 2265642, 17924332.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 884-894
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
van der Gaag, K.J.3
van der Vliet, P.J.4
van Teijlingen, C.M.5
de Knijff, P.6
Padberg, G.W.7
Frants, R.R.8
van der Maarel, S.M.9
-
9
-
-
8844227430
-
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
-
10.1086/426035, 1182148, 15467981
-
Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 2004, 75:1124-1130. 10.1086/426035, 1182148, 15467981.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1124-1130
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
Frants, R.R.3
Padberg, G.W.4
Morava, E.5
van der Maarel, S.M.6
-
10
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
10.1073/pnas.0708659104, 2084313, 17984056
-
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Matteotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppee F, Chen YW. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 2007, 104:18157-18162. 10.1073/pnas.0708659104, 2084313, 17984056.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
Winokur, S.4
Shi, R.5
Qian, H.6
Sauvage, S.7
Matteotti, C.8
van Acker, A.M.9
Leo, O.10
Figlewicz, D.11
Barro, M.12
Laoudj-Chenivesse, D.13
Belayew, A.14
Coppee, F.15
Chen, Y.W.16
-
11
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
10.1126/science.1189044, 20724583
-
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329:1650-1653. 10.1126/science.1189044, 20724583.
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.1
van der Vliet, P.J.2
Klooster, R.3
Sacconi, S.4
Camano, P.5
Dauwerse, J.G.6
Snider, L.7
Straasheijm, K.R.8
van Ommen, G.J.9
Padberg, G.W.10
Miller, D.G.11
Tapscott, S.J.12
Tawil, R.13
Frants, R.R.14
van der Maarel, S.M.15
-
12
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
10.1016/S0378-1119(99)00267-X, 10433963
-
Gabriels J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A. 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. 10.1016/S0378-1119(99)00267-X, 10433963.
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriels, J.1
Beckers, M.C.2
Ding, H.3
De Vriese, A.4
Plaisance, S.5
van der Maarel, S.M.6
Padberg, G.W.7
Frants, R.R.8
Hewitt, J.E.9
Collen, D.10
Belayew, A.11
-
13
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
10.1038/emboj.2008.201, 2572182, 18833193
-
Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppee F, Belayew A, Perlingeiro RR, Kyba M. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J 2008, 27:2766-2779. 10.1038/emboj.2008.201, 2572182, 18833193.
-
(2008)
EMBO J
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
Xu, Z.2
Gang, E.J.3
Galindo, C.L.4
Liu, M.5
Simsek, T.6
Garner, H.R.7
Agha-Mohammadi, S.8
Tassin, A.9
Coppee, F.10
Belayew, A.11
Perlingeiro, R.R.12
Kyba, M.13
-
14
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
10.1016/j.nmd.2007.04.002, 17588759
-
Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Matteotti C, Arias C, Corona ED, Nunez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppee F, Rosa AL. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007, 17:611-623. 10.1016/j.nmd.2007.04.002, 17588759.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
Conde, C.B.4
Sauvage, S.5
Matteotti, C.6
Arias, C.7
Corona, E.D.8
Nunez, N.G.9
Leo, O.10
Wattiez, R.11
Figlewicz, D.12
Laoudj-Chenivesse, D.13
Belayew, A.14
Coppee, F.15
Rosa, A.L.16
-
15
-
-
53949112045
-
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation
-
10.1016/j.expneurol.2008.07.022, 18723017
-
Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, Kyba M. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol 2008, 214:87-96. 10.1016/j.expneurol.2008.07.022, 18723017.
-
(2008)
Exp Neurol
, vol.214
, pp. 87-96
-
-
Bosnakovski, D.1
Lamb, S.2
Simsek, T.3
Xu, Z.4
Belayew, A.5
Perlingeiro, R.6
Kyba, M.7
-
16
-
-
70349621645
-
Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats
-
10.1371/journal.pone.0007003, 2737622, 19756142
-
Bosnakovski D, Daughters RS, Xu Z, Slack JM, Kyba M. Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One 2009, 4:e7003. 10.1371/journal.pone.0007003, 2737622, 19756142.
-
(2009)
PLoS One
, vol.4
-
-
Bosnakovski, D.1
Daughters, R.S.2
Xu, Z.3
Slack, J.M.4
Kyba, M.5
-
17
-
-
77950571108
-
New substructure filters for removal of pan assay interference compounds (PAINS) from screening libraries and for their exclusion in bioassays
-
10.1021/jm901137j, 20131845
-
Baell JB, Holloway GA. New substructure filters for removal of pan assay interference compounds (PAINS) from screening libraries and for their exclusion in bioassays. J Med Chem 2010, 53:2719-2740. 10.1021/jm901137j, 20131845.
-
(2010)
J Med Chem
, vol.53
, pp. 2719-2740
-
-
Baell, J.B.1
Holloway, G.A.2
-
18
-
-
44849112219
-
ABT-263: a potent and orally bioavailable Bcl-2 family inhibitor
-
10.1158/0008-5472.CAN-07-5836, 18451170
-
Tse C, Shoemaker AR, Adickes J, Anderson MG, Chen J, Jin S, Johnson EF, Marsh KC, Mitten MJ, Nimmer P, Roberts L, Tahir SK, Xiao Y, Yang X, Zhang H. ABT-263: a potent and orally bioavailable Bcl-2 family inhibitor. Cancer Res 2008, 68:3421-3428. 10.1158/0008-5472.CAN-07-5836, 18451170.
-
(2008)
Cancer Res
, vol.68
, pp. 3421-3428
-
-
Tse, C.1
Shoemaker, A.R.2
Adickes, J.3
Anderson, M.G.4
Chen, J.5
Jin, S.6
Johnson, E.F.7
Marsh, K.C.8
Mitten, M.J.9
Nimmer, P.10
Roberts, L.11
Tahir, S.K.12
Xiao, Y.13
Yang, X.14
Zhang, H.15
-
19
-
-
70350690312
-
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
-
10.1093/brain/awp236, 19767415
-
Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186. 10.1093/brain/awp236, 19767415.
-
(2009)
Brain
, vol.132
, pp. 3175-3186
-
-
Norwood, F.L.1
Harling, C.2
Chinnery, P.F.3
Eagle, M.4
Bushby, K.5
Straub, V.6
-
21
-
-
84864935164
-
Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction
-
10.1016/j.freeradbiomed.2012.06.041, 22796148
-
Turki A, Hayot M, Carnac G, Pillard F, Passerieux E, Bommart S, Raynaud de Mauverger E, Hugon G, Pincemail J, Pietri S, Lambert K, Belayew A, Vassetzky Y, Juntas Morales R, Mercier J, Laoudj-Chenivesse D. Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med 2012, 53:1068-1079. 10.1016/j.freeradbiomed.2012.06.041, 22796148.
-
(2012)
Free Radic Biol Med
, vol.53
, pp. 1068-1079
-
-
Turki, A.1
Hayot, M.2
Carnac, G.3
Pillard, F.4
Passerieux, E.5
Bommart, S.6
Raynaud de Mauverger, E.7
Hugon, G.8
Pincemail, J.9
Pietri, S.10
Lambert, K.11
Belayew, A.12
Vassetzky, Y.13
Juntas Morales, R.14
Mercier, J.15
Laoudj-Chenivesse, D.16
-
22
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
10.1093/hmg/ddg327, 14519683
-
Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SJ, Hayashi Y, Flanigan KM. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 2003, 12:2895-2907. 10.1093/hmg/ddg327, 14519683.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2895-2907
-
-
Winokur, S.T.1
Chen, Y.W.2
Masny, P.S.3
Martin, J.H.4
Ehmsen, J.T.5
Tapscott, S.J.6
van der Maarel, S.J.7
Hayashi, Y.8
Flanigan, K.M.9
-
23
-
-
0043095483
-
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
-
10.1016/S0960-8966(02)00284-5, 12868502
-
Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord 2003, 13:322-333. 10.1016/S0960-8966(02)00284-5, 12868502.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 322-333
-
-
Winokur, S.T.1
Barrett, K.2
Martin, J.H.3
Forrester, J.R.4
Simon, M.5
Tawil, R.6
Chung, S.A.7
Masny, P.S.8
Figlewicz, D.A.9
|