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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.


Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation.

Bodega B, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E.

BMC Biol. 2009 Jul 16;7:41. doi: 10.1186/1741-7007-7-41.


Deciphering transcription dysregulation in FSH muscular dystrophy.

Ehrlich M, Lacey M.

J Hum Genet. 2012 Aug;57(8):477-84. doi: 10.1038/jhg.2012.74. Epub 2012 Jun 21. Review.


Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM.

Hum Mol Genet. 2003 Nov 15;12(22):2895-907. Epub 2003 Sep 30.


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.


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.


Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.

Cheli S, François S, Bodega B, Ferrari F, Tenedini E, Roncaglia E, Ferrari S, Ginelli E, Meneveri R.

PLoS One. 2011;6(6):e20966. doi: 10.1371/journal.pone.0020966. Epub 2011 Jun 13.


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.


DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.

Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, Barro M, Mahieu I, Leroy A, Leclercq I, Mainfroid V, Figlewicz D, Mouly V, Butler-Browne G, Belayew A, Coppée F.

PLoS One. 2009 Oct 15;4(10):e7482. doi: 10.1371/journal.pone.0007482.


DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation.

Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, Kyba M.

Exp Neurol. 2008 Nov;214(1):87-96. doi: 10.1016/j.expneurol.2008.07.022. Epub 2008 Aug 6.


DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J.

Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20.


FSHD myotubes with different phenotypes exhibit distinct proteomes.

Tassin A, Leroy B, Laoudj-Chenivesse D, Wauters A, Vanderplanck C, Le Bihan MC, Coppée F, Wattiez R, Belayew A.

PLoS One. 2012;7(12):e51865. doi: 10.1371/journal.pone.0051865. Epub 2012 Dec 18.


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.


Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.

Dmitriev P, Stankevicins L, Ansseau E, Petrov A, Barat A, Dessen P, Robert T, Turki A, Lazar V, Labourer E, Belayew A, Carnac G, Laoudj-Chenivesse D, Lipinski M, Vassetzky YS.

J Biol Chem. 2013 Dec 6;288(49):34989-5002. doi: 10.1074/jbc.M113.504522. Epub 2013 Oct 20.


Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R.

Curr Opin Neurol. 2011 Oct;24(5):423-8. doi: 10.1097/WCO.0b013e32834959af. Review.


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.


Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.

PLoS Genet. 2010 Oct 28;6(10):e1001181. doi: 10.1371/journal.pgen.1001181.


FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM.

J Med Genet. 2004 Nov;41(11):826-36.


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, Stankevicins L, Charron S, Kim E, Bos TJ, Robert T, Turki A, Coppée F, Belayew A, Lazar V, Carnac G, Laoudj D, Lipinski M, Vassetzky YS.

J Biol Chem. 2011 Dec 30;286(52):44620-31. doi: 10.1074/jbc.M111.254052. Epub 2011 Sep 21.


Testing the effects of FSHD candidate gene expression in vertebrate muscle development.

Wuebbles RD, Long SW, Hanel ML, Jones PL.

Int J Clin Exp Pathol. 2010 Mar 28;3(4):386-400.

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