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DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells.

Sharma V, Harafuji N, Belayew A, Chen YW.

PLoS One. 2013 May 22;8(5):e64691. doi: 10.1371/journal.pone.0064691. Print 2013.


miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Harafuji N, Schneiderat P, Walter MC, Chen YW.

Orphanet J Rare Dis. 2013 Apr 5;8:55. doi: 10.1186/1750-1172-8-55.


Gene expression during normal and FSHD myogenesis.

Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M.

BMC Med Genomics. 2011 Sep 27;4:67. doi: 10.1186/1755-8794-4-67.


DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.

Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ.

Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8.


The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.

Neuromuscul Disord. 2007 Aug;17(8):611-23. Epub 2007 Jun 27.


PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts.

Sharma V, Pandey SN, Khawaja H, Brown KJ, Hathout Y, Chen YW.

J Genet Syndr Gene Ther. 2016 Aug;7(4). pii: 303. Epub 2016 Aug 8.


DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. Epub 2007 Nov 5.


DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.

Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong CJ, Morello TD, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2017 Mar 8;13(3):e1006658. doi: 10.1371/journal.pgen.1006658. eCollection 2017 Mar.


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, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.


DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.

Knopp P, Krom YD, Banerji CR, Panamarova M, Moyle LA, den Hamer B, van der Maarel SM, Zammit PS.

J Cell Sci. 2016 Oct 15;129(20):3816-3831.


DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A.

J Cell Mol Med. 2013 Jan;17(1):76-89. doi: 10.1111/j.1582-4934.2012.01647.x. Epub 2012 Dec 4.


Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts.

Pandey SN, Khawaja H, Chen YW.

Molecules. 2015 May 8;20(5):8304-15. doi: 10.3390/molecules20058304.


An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies.

Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppée F, Belayew A, Perlingeiro RR, Kyba M.

EMBO J. 2008 Oct 22;27(20):2766-79. doi: 10.1038/emboj.2008.201. Epub 2008 Oct 2.


Double homeobox gene, Duxbl, promotes myoblast proliferation and abolishes myoblast differentiation by blocking MyoD transactivation.

Wu SL, Li GZ, Chou CY, Tsai MS, Chen YP, Li CJ, Liou GG, Chang WW, Chen SL, Wang SH.

Cell Tissue Res. 2014 Nov;358(2):551-66. doi: 10.1007/s00441-014-1974-x. Epub 2014 Aug 19.


Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage.

Bou Saada Y, Dib C, Dmitriev P, Hamade A, Carnac G, Laoudj-Chenivesse D, Lipinski M, Vassetzky YS.

Histochem Cell Biol. 2016 Apr;145(4):475-83. doi: 10.1007/s00418-016-1410-2. Epub 2016 Feb 9.


DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2013 Nov;9(11):e1003947. doi: 10.1371/journal.pgen.1003947. Epub 2013 Nov 21.


The FSHD atrophic myotube phenotype is caused by DUX4 expression.

Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A.

PLoS One. 2011;6(10):e26820. doi: 10.1371/journal.pone.0026820. Epub 2011 Oct 28.


Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17.


Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR Jr, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.

Hum Mutat. 2014 Aug;35(8):998-1010. doi: 10.1002/humu.22593. Epub 2014 Jun 24.


Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences.

Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ.

PLoS One. 2015 Mar 5;10(3):e0118813. doi: 10.1371/journal.pone.0118813. eCollection 2015.

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