-
1
-
-
34547754037
-
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy
-
S0002-9297(07)61193-8 [pii];10.1086/519311
-
Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, et al. (2007) Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 81: 264-279 S0002-9297(07)61193-8 [pii];10.1086/519311 [doi].
-
(2007)
Am J Hum Genet
, vol.81
, pp. 264-279
-
-
Clapp, J.1
Mitchell, L.M.2
Bolland, D.J.3
Fantes, J.4
Corcoran, A.E.5
-
2
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, et al. (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104: 18157-18162.
-
(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
-
3
-
-
0344436078
-
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 MC, Ding H, De Vriese A, Plaisance S, et al. (1999) 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: 25-32.
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriels, J.1
Beckers, M.C.2
Ding, H.3
de Vriese, A.4
Plaisance, S.5
-
4
-
-
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, Hewitt JE, (1995) 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 28: 389-397.
-
(1995)
Genomics
, vol.28
, pp. 389-397
-
-
Lyle, R.1
Wright, T.J.2
Clark, L.N.3
Hewitt, J.E.4
-
5
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy
-
S1534-5807(11)00523-5 [pii];10.1016/j.devcel.2011.11.013
-
Geng LN, Yao Z, Snider L, Fong AP, Cech JN, et al. (2012) DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell 22: 38-51 S1534-5807(11)00523-5 [pii];10.1016/j.devcel.2011.11.013 [doi].
-
(2012)
Dev Cell
, vol.22
, pp. 38-51
-
-
Geng, L.N.1
Yao, Z.2
Snider, L.3
Fong, A.P.4
Cech, J.N.5
-
6
-
-
78449250235
-
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
-
10.1371/journal.pgen.1001181
-
Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, et al. (2010) Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet 6: e1001181 doi:10.1371/journal.pgen.1001181.
-
(2010)
PLoS Genet
, vol.6
-
-
Snider, L.1
Geng, L.N.2
Lemmers, R.J.3
Kyba, M.4
Ware, C.B.5
-
7
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R, Van Der Maarel SrM, (2006) Facioscapulohumeral muscular dystrophy. Muscle & Nerve 34: 1-15.
-
(2006)
Muscle & Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
van der Maarel, S.M.2
-
8
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
10.1002/humu.21091
-
de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, et al. (2009) Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 30: 1449-1459 10.1002/humu.21091 [doi].
-
(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
-
9
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
-
dds284 [pii];10.1093/hmg/dds284
-
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, et al. (2012) Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet 21: 4419-4430 dds284 [pii];10.1093/hmg/dds284 [doi].
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4419-4430
-
-
Jones, T.I.1
Chen, J.C.2
Rahimov, F.3
Homma, S.4
Arashiro, P.5
-
10
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
ng.2454 [pii];10.1038/ng.2454
-
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, S, et al, (2012) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44: 1370-1374 ng.2454 [pii];10.1038/ng.2454 [doi].
-
(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.S.5
-
11
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, et al. (1993) FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2: 2037-2042.
-
(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
-
12
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, et al. (2003) Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 35: 315-317.
-
(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
-
13
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, et al. (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2: 26-30.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
-
14
-
-
84873187664
-
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy
-
10.1111/j.1582-4934.2012.01647.x
-
Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, et al. (2012) DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med 10.1111/j.1582-4934.2012.01647.x [doi].
-
(2012)
J Cell Mol Med
-
-
Tassin, A.1
Laoudj-Chenivesse, D.2
Vanderplanck, C.3
Barro, M.4
Charron, S.5
-
15
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, et al. (2007) Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 81: 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
van der Vliet, P.J.4
van Teijlingen, C.M.5
-
16
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Science.1189044 [pii];10.1126/science.1189044
-
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, et al. (2010) A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329: 1650-1653 science.1189044 [pii];10.1126/science.1189044 [doi].
-
(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
-
17
-
-
79955664112
-
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
-
S1471-4914(11)00002-5 [pii];10.1016/j.molmed.2011.01.001
-
van der Maarel SM, Tawil R, Tapscott SJ, (2011) Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 17: 252-258 S1471-4914(11)00002-5 [pii];10.1016/j.molmed.2011.01.001 [doi].
-
(2011)
Trends Mol Med
, vol.17
, pp. 252-258
-
-
van der Maarel, S.M.1
Tawil, R.2
Tapscott, S.J.3
-
18
-
-
78649330207
-
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene
-
1471-2148-10-364 [pii];10.1186/1471-2148-10-364
-
Leidenroth A, Hewitt JE, (2010) A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene. BMC Evol Biol 10: 364 1471-2148-10-364 [pii];10.1186/1471-2148-10-364 [doi].
-
(2010)
BMC Evol Biol
, vol.10
, pp. 364
-
-
Leidenroth, A.1
Hewitt, J.E.2
-
19
-
-
0024348057
-
Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assembly
-
Furst DO, Osborn M, Weber K, (1989) Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assembly. J Cell Biol 109: 517-527.
-
(1989)
J Cell Biol
, vol.109
, pp. 517-527
-
-
Furst, D.O.1
Osborn, M.2
Weber, K.3
-
20
-
-
0026579129
-
MyoD, myogenin independent differentiation of primordial myoblasts in mouse somites
-
Cusella-De Angelis MG, Lyons G, Sonnino C, De AL, Vivarelli E, Farmer K, et al. (1992) MyoD, myogenin independent differentiation of primordial myoblasts in mouse somites. J Cell Biol 116: 1243-1255.
-
(1992)
J Cell Biol
, vol.116
, pp. 1243-1255
-
-
Cusella-De Angelis, M.G.1
Lyons, G.2
Sonnino, C.3
De, A.L.4
Vivarelli, E.5
Farmer, K.6
-
21
-
-
65249142689
-
The origin of embryonic and fetal myoblasts: a role of Pax3 and Pax7
-
23/8/902 [pii];10.1101/gad.1797009
-
Messina G, Cossu G, (2009) The origin of embryonic and fetal myoblasts: a role of Pax3 and Pax7. Genes Dev 23: 902-905 23/8/902 [pii];10.1101/gad.1797009 [doi].
-
(2009)
Genes Dev
, vol.23
, pp. 902-905
-
-
Messina, G.1
Cossu, G.2
-
22
-
-
0037278616
-
The formation of skeletal muscle: from somite to limb
-
Buckingham M, Bajard L, Chang T, Daubas P, Hadchouel J, et al. (2003) The formation of skeletal muscle: from somite to limb. J Anat 202: 59-68.
-
(2003)
J Anat
, vol.202
, pp. 59-68
-
-
Buckingham, M.1
Bajard, L.2
Chang, T.3
Daubas, P.4
Hadchouel, J.5
-
23
-
-
0035964163
-
Tongue atrophy in facioscapulohumeral muscular dystrophy
-
Yamanaka G, Goto K, Matsumura T, Funakoshi M, Komori T, et al. (2001) Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology 57: 733-5.
-
(2001)
Neurology
, vol.57
, pp. 733-735
-
-
Yamanaka, G.1
Goto, K.2
Matsumura, T.3
Funakoshi, M.4
Komori, T.5
-
24
-
-
67249104052
-
RNA Transcripts, miRNA-sized Fragments, and Proteins Produced from D4Z4 Units: New Candidates for the Pathophysiology of Facioscapulohumeral Dystrophy
-
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, et al. (2009) RNA Transcripts, miRNA-sized Fragments, and Proteins Produced from D4Z4 Units: New Candidates for the Pathophysiology of Facioscapulohumeral Dystrophy. Hum Mol Genet 18: 2414-2430.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2414-2430
-
-
Snider, L.1
Asawachaicharn, A.2
Tyler, A.E.3
Geng, L.N.4
Petek, L.M.5
-
25
-
-
55949083347
-
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
-
de Greef JC, Frants RR, van der Maarel SM, (2008) Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res 647: 94-102.
-
(2008)
Mutat Res
, vol.647
, pp. 94-102
-
-
de Greef, J.C.1
Frants, R.R.2
van der Maarel, S.M.3
-
26
-
-
25444435141
-
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
-
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, J, et al, (2005) Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 58: 569-576.
-
(2005)
Ann Neurol
, vol.58
, pp. 569-576
-
-
van Overveld, P.G.1
Enthoven, L.2
Ricci, E.3
Rossi, M.4
Felicetti, L.J.5
-
27
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1g/cohesin binding at D4Z4 repeats in facioscapulohumeral dystrophy (FSHD)
-
10.1371/journal.pgen.1000559
-
Zeng W, de Greef JC, Chien R, Kong X, Gregson HC, Winokur ST, et al. (2009) Specific loss of histone H3 lysine 9 trimethylation and HP1g/cohesin binding at D4Z4 repeats in facioscapulohumeral dystrophy (FSHD). PLoS Genet 7: e1000559 doi:10.1371/journal.pgen.1000559.
-
(2009)
PLoS Genet
, vol.7
-
-
Zeng, W.1
de Greef, J.C.2
Chien, R.3
Kong, X.4
Gregson, H.C.5
Winokur, S.T.6
-
28
-
-
84861934838
-
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
-
20001 [pii];10.4161/epi.20001
-
Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, et al. (2012) Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics 7: 579-584 20001 [pii];10.4161/epi.20001 [doi].
-
(2012)
Epigenetics
, vol.7
, pp. 579-584
-
-
Balog, J.1
Thijssen, P.E.2
de Greef, J.C.3
Shah, B.4
van Engelen, B.G.5
-
29
-
-
0037442202
-
Mouse SWAM1 and SWAM2 are antibacterial proteins composed of a single whey acidic protein motif
-
Hagiwara K, Kikuchi T, Endo Y, Huqun, Usui K, et al. (2003) Mouse SWAM1 and SWAM2 are antibacterial proteins composed of a single whey acidic protein motif. J Immunol 170: 1973-1979.
-
(2003)
J Immunol
, vol.170
, pp. 1973-1979
-
-
Hagiwara, K.1
Kikuchi, T.2
Endo, Y.3
Huqun4
Usui, K.5
-
30
-
-
80052443371
-
Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions
-
doi:10.1097/WCO.0b013e32834959af
-
Statland JM, Tawil R, (2011) Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 24: 423-428 10.1097/WCO.0b013e32834959af [doi].
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 423-428
-
-
Statland, J.M.1
Tawil, R.2
-
31
-
-
30744443289
-
Common pathological mechanisms in mouse models for muscular dystrophies
-
Turk R, Sterrenburg E, van der Wees CG, de Meijer EJ, de Menezes RX, et al. (2006) Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J 20: 127-129.
-
(2006)
FASEB J
, vol.20
, pp. 127-129
-
-
Turk, R.1
Sterrenburg, E.2
van der Wees, C.G.3
de Meijer, E.J.4
de Menezes, R.X.5
-
32
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, et al. (2008) An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. Embo J 27: 2766-2779.
-
(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
-
33
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, et al. (2007) The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 17: 611-623.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
Conde, C.B.4
Sauvage, S.5
-
34
-
-
0037047439
-
Inappropriate Gene Activation in FSHD. A Repressor Complex Binds a Chromosomal Repeat Deleted in Dystrophic Muscle
-
Gabellini D, Green M, Tupler R, (2002) Inappropriate Gene Activation in FSHD. A Repressor Complex Binds a Chromosomal Repeat Deleted in Dystrophic Muscle. Cell 110: 339-248.
-
(2002)
Cell
, vol.110
, pp. 248-339
-
-
Gabellini, D.1
Green, M.2
Tupler, R.3
-
35
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
van Deutekom JCT, Lemmers RJLF, Grewal PK, van Geel M, Romberg S, et al. (1996) Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5: 581-590.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 581-590
-
-
van Deutekom, J.C.T.1
Lemmers, R.J.L.F.2
Grewal, P.K.3
van Geel, M.4
Romberg, S.5
-
36
-
-
84890557724
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, et al. (2005) Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature.
-
(2005)
Nature
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
-
37
-
-
77955892276
-
Testing the effects of FSHD candidate gene expression in vertebrate muscle development
-
Wuebbles RD, Long SW, Hanel ML, Jones PL, (2010) Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol 3: 386-400.
-
(2010)
Int J Clin Exp Pathol
, vol.3
, pp. 386-400
-
-
Wuebbles, R.D.1
Long, S.W.2
Hanel, M.L.3
Jones, P.L.4
-
38
-
-
67650314502
-
FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy
-
dmm.002261 [pii];10.1242/dmm.002261
-
Wuebbles RD, Hanel ML, Jones PL, (2009) FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech 2: 267-274 dmm.002261 [pii];10.1242/dmm.002261 [doi].
-
(2009)
Dis Model Mech
, vol.2
, pp. 267-274
-
-
Wuebbles, R.D.1
Hanel, M.L.2
Jones, P.L.3
-
39
-
-
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 PG, Vedanarayanan V, van der MS, et al. (2003) 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: 2909-2921.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
Yang, F.2
van Overveld, P.G.3
Vedanarayanan, V.4
van der, M.S.5
-
40
-
-
70450275779
-
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
-
ejhg200962 [pii];10.1038/ejhg.2009.62
-
Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, et al. (2009) Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur J Hum Genet 17: 1615-1624 ejhg200962 [pii];10.1038/ejhg.2009.62 [doi].
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1615-1624
-
-
Klooster, R.1
Straasheijm, K.2
Shah, B.3
Sowden, J.4
Frants, R.5
-
41
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
01.wnl.0000251269.31442.d9 [pii];10.1212/01.wnl.0000251269.31442.d9
-
Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R, (2007) Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68: 569-577 01.wnl.0000251269.31442.d9 [pii];10.1212/01.wnl.0000251269.31442.d9 [doi].
-
(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
-
42
-
-
84858334928
-
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function
-
ejhg2011213 [pii];10.1038/ejhg.2011.213
-
Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, et al. (2012) A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. Eur J Hum Genet 20: 404-410 ejhg2011213 [pii];10.1038/ejhg.2011.213 [doi].
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 404-410
-
-
Homma, S.1
Chen, J.C.2
Rahimov, F.3
Beermann, M.L.4
Hanger, K.5
-
43
-
-
70349621645
-
Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats
-
doi:10.1371/journal.pone.0007003
-
Bosnakovski D, Daughters RS, Xu Z, Slack JM, Kyba M, (2009) Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS ONE 4: e7003 doi:10.1371/journal.pone.0007003.
-
(2009)
PLoS ONE
, vol.4
-
-
Bosnakovski, D.1
Daughters, R.S.2
Xu, Z.3
Slack, J.M.4
Kyba, M.5
-
44
-
-
79953292473
-
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
-
doi:10.1002/ana.22275
-
Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, et al. (2011) DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol 69: 540-552 10.1002/ana.22275 [doi].
-
(2011)
Ann Neurol
, vol.69
, pp. 540-552
-
-
Wallace, L.M.1
Garwick, S.E.2
Mei, W.3
Belayew, A.4
Coppee, F.5
-
45
-
-
84872415036
-
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
-
dds467 [pii];10.1093/hmg/dds467
-
Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM, (2012) Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet dds467 [pii];10.1093/hmg/dds467 [doi].
-
(2012)
Hum Mol Genet
-
-
Mitsuhashi, H.1
Mitsuhashi, S.2
Lynn-Jones, T.3
Kawahara, G.4
Kunkel, L.M.5
-
46
-
-
84863450530
-
RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy
-
mt201268 [pii];10.1038/mt.2012.68
-
Wallace LM, Liu J, Domire JS, Garwick-Coppens SE, Guckes SM, et al. (2012) RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy. Mol Ther 20: 1417-1423 mt201268 [pii];10.1038/mt.2012.68 [doi].
-
(2012)
Mol Ther
, vol.20
, pp. 1417-1423
-
-
Wallace, L.M.1
Liu, J.2
Domire, J.S.3
Garwick-Coppens, S.E.4
Guckes, S.M.5
-
47
-
-
34548392207
-
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
-
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, et al. (2007) Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology 69: 1018-1026.
-
(2007)
Neurology
, vol.69
, pp. 1018-1026
-
-
de Greef, J.C.1
Wohlgemuth, M.2
Chan, O.A.3
Hansson, K.B.4
Smeets, D.5
-
48
-
-
84860885909
-
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy
-
S0092-8674(12)00463-1 [pii];10.1016/j.cell.2012.03.035
-
Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, et al. (2012) A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell 149: 819-831 S0092-8674(12)00463-1 [pii];10.1016/j.cell.2012.03.035 [doi].
-
(2012)
Cell
, vol.149
, pp. 819-831
-
-
Cabianca, D.S.1
Casa, V.2
Bodega, B.3
Xynos, A.4
Ginelli, E.5
-
49
-
-
79952736706
-
Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt
-
S0960-8966(11)00027-7 [pii];10.1016/j.nmd.2011.02.002
-
Fitzsimons RB, (2011) Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord 21: 263-271 S0960-8966(11)00027-7 [pii];10.1016/j.nmd.2011.02.002 [doi].
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 263-271
-
-
Fitzsimons, R.B.1
-
50
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, P, et al, (1993) FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2: 2037-2042.
-
(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.P.5
-
51
-
-
0032862871
-
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements
-
van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, et al. (1999) The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics 61: 55-65.
-
(1999)
Genomics
, vol.61
, pp. 55-65
-
-
van Geel, M.1
Heather, L.J.2
Lyle, R.3
Hewitt, J.E.4
Frants, R.R.5
-
52
-
-
33846924098
-
COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping
-
nprot.2006.41 [pii];10.1038/nprot.2006.41
-
Szuhai K, Tanke HJ, (2006) COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping. Nat Protoc 1: 264-275 nprot.2006.41 [pii];10.1038/nprot.2006.41 [doi].
-
(2006)
Nat Protoc
, vol.1
, pp. 264-275
-
-
Szuhai, K.1
Tanke, H.J.2
-
54
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
-
55
-
-
59749102272
-
Isolation and grafting of single muscle fibres
-
doi:10.1007/978-1-59745-060-7_20
-
Collins CA, Zammit PS, (2009) Isolation and grafting of single muscle fibres. Methods Mol Biol 482: 319-330 10.1007/978-1-59745-060-7_20 [doi].
-
(2009)
Methods Mol Biol
, vol.482
, pp. 319-330
-
-
Collins, C.A.1
Zammit, P.S.2
-
56
-
-
79955600334
-
Immunodetection of human double homeobox 4
-
doi:10.1089/hyb.2010.0094
-
Geng LN, Tyler AE, Tapscott SJ, (2011) Immunodetection of human double homeobox 4. Hybridoma (Larchmt) 30: 125-130 10.1089/hyb.2010.0094 [doi].
-
(2011)
Hybridoma (Larchmt)
, vol.30
, pp. 125-130
-
-
Geng, L.N.1
Tyler, A.E.2
Tapscott, S.J.3
-
57
-
-
0036856355
-
MethPrimer: designing primers for methylation PCRs
-
Li LC, Dahiya R, (2002) MethPrimer: designing primers for methylation PCRs. Bioinformatics 18: 1427-1431.
-
(2002)
Bioinformatics
, vol.18
, pp. 1427-1431
-
-
Li, L.C.1
Dahiya, R.2
-
58
-
-
4544293301
-
Quantitative DNA methylation analysis based on four-dye trace data from direct sequencing of PCR amplificates
-
doi:10.1093/bioinformatics/bth346, bth346 [pii]
-
Lewin J, Schmitt AO, Adorjan P, Hildmann T, Piepenbrock C, (2004) Quantitative DNA methylation analysis based on four-dye trace data from direct sequencing of PCR amplificates. Bioinformatics 20: 3005-3012 10.1093/bioinformatics/bth346 [doi];bth346 [pii].
-
(2004)
Bioinformatics
, vol.20
, pp. 3005-3012
-
-
Lewin, J.1
Schmitt, A.O.2
Adorjan, P.3
Hildmann, T.4
Piepenbrock, C.5
-
59
-
-
33847661809
-
Protocol for the fast chromatin immunoprecipitation (ChIP) method
-
nprot.2006.27 [pii];10.1038/nprot.2006.27
-
Nelson JD, Denisenko O, Bomsztyk K, (2006) Protocol for the fast chromatin immunoprecipitation (ChIP) method. Nat Protoc 1: 179-185 nprot.2006.27 [pii];10.1038/nprot.2006.27 [doi].
-
(2006)
Nat Protoc
, vol.1
, pp. 179-185
-
-
Nelson, J.D.1
Denisenko, O.2
Bomsztyk, K.3
-
60
-
-
46249088370
-
lumi: a pipeline for processing Illumina microarray
-
btn224 [pii];10.1093/bioinformatics/btn224
-
Du P, Kibbe WA, Lin SM, (2008) lumi: a pipeline for processing Illumina microarray. Bioinformatics 24: 1547-1548 btn224 [pii];10.1093/bioinformatics/btn224 [doi].
-
(2008)
Bioinformatics
, vol.24
, pp. 1547-1548
-
-
Du, P.1
Kibbe, W.A.2
Lin, S.M.3
-
61
-
-
12344330424
-
limmaGUI: a graphical user interface for linear modeling of microarray data
-
doi:10.1093/bioinformatics/bth449, bth449 [pii]
-
Wettenhall JM, Smyth GK, (2004) limmaGUI: a graphical user interface for linear modeling of microarray data. Bioinformatics 20: 3705-3706 10.1093/bioinformatics/bth449 [doi];bth449 [pii].
-
(2004)
Bioinformatics
, vol.20
, pp. 3705-3706
-
-
Wettenhall, J.M.1
Smyth, G.K.2
-
63
-
-
84859853893
-
Genetic and epigenetic determinants of neurogenesis and myogenesis
-
S1534-5807(12)00049-4 [pii];10.1016/j.devcel.2012.01.015
-
Fong AP, Yao Z, Zhong JW, Cao Y, Ruzzo WL, et al. (2012) Genetic and epigenetic determinants of neurogenesis and myogenesis. Dev Cell 22: 721-735 S1534-5807(12)00049-4 [pii];10.1016/j.devcel.2012.01.015 [doi].
-
(2012)
Dev Cell
, vol.22
, pp. 721-735
-
-
Fong, A.P.1
Yao, Z.2
Zhong, J.W.3
Cao, Y.4
Ruzzo, W.L.5
-
64
-
-
77951935861
-
Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming
-
S1534-5807(10)00112-7 [pii];10.1016/j.devcel.2010.02.014
-
Cao Y, Yao Z, Sarkar D, Lawrence M, Sanchez GJ, et al. (2010) Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming. Dev Cell 18: 662-674 S1534-5807(10)00112-7 [pii];10.1016/j.devcel.2010.02.014 [doi].
-
(2010)
Dev Cell
, vol.18
, pp. 662-674
-
-
Cao, Y.1
Yao, Z.2
Sarkar, D.3
Lawrence, M.4
Sanchez, G.J.5
-
65
-
-
79551605803
-
Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages
-
emboj2010342 [pii];10.1038/emboj.2010.342
-
Palii CG, Perez-Iratxeta C, Yao Z, Cao Y, Dai F, et al. (2011) Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages. EMBO J 30: 494-509 emboj2010342 [pii];10.1038/emboj.2010.342 [doi].
-
(2011)
EMBO J
, vol.30
, pp. 494-509
-
-
Palii, C.G.1
Perez-Iratxeta, C.2
Yao, Z.3
Cao, Y.4
Dai, F.5
|