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Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.

Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7.


Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

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 Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.

PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10.


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.


Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects.

Barro M, Carnac G, Flavier S, Mercier J, Vassetzky Y, Laoudj-Chenivesse D.

J Cell Mol Med. 2010 Jan;14(1-2):275-89. doi: 10.1111/j.1582-4934.2008.00368.x. Epub 2008 May 24.


An extended transcriptional network for pluripotency of embryonic stem cells.

Kim J, Chu J, Shen X, Wang J, Orkin SH.

Cell. 2008 Mar 21;132(6):1049-61. doi: 10.1016/j.cell.2008.02.039. Erratum in: Cell. 2008 Jun 27;133(7):1290.


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.


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, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.


Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.

Neurology. 2007 Sep 4;69(10):1018-26.


Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies.

Morosetti R, Mirabella M, Gliubizzi C, Broccolini A, Sancricca C, Pescatori M, Gidaro T, Tasca G, Frusciante R, Tonali PA, Cossu G, Ricci E.

Stem Cells. 2007 Dec;25(12):3173-82. Epub 2007 Aug 30.


Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.

Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, Scotting PJ, Armour JA, Hewitt JE.

Am J Hum Genet. 2007 Aug;81(2):264-79. Epub 2007 Jun 27.


Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R.

Neurology. 2007 Feb 20;68(8):569-77. Epub 2006 Dec 6.


Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, Viganò A, Colantoni L, Begum S, Ricci E, Wait R, Lanfranchi G, Gelfi C.

Proteomics. 2006 Oct;6(19):5303-21.


Structural variants: changing the landscape of chromosomes and design of disease studies.

Feuk L, Marshall CR, Wintle RF, Scherer SW.

Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.


Facioscapulohumeral muscular dystrophy.

Tawil R, Van Der Maarel SM.

Muscle Nerve. 2006 Jul;34(1):1-15. Review.


Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.

Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R.

Nature. 2006 Feb 23;439(7079):973-7. Epub 2005 Dec 11.


The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR.

Am J Hum Genet. 2005 Mar;76(3):375-86. Epub 2005 Jan 24. Review. No abstract available.


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.


p18INK4c and p27KIP1 are required for cell cycle arrest of differentiated myotubes.

Myers TK, Andreuzza SE, Franklin DS.

Exp Cell Res. 2004 Nov 1;300(2):365-78.


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