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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.

Hum Mutat. 2009 Oct;30(10):1449-59. doi: 10.1002/humu.21091.


Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF.

Ottaviani A, Schluth-Bolard C, Rival-Gervier S, Boussouar A, Rondier D, Foerster AM, Morere J, Bauwens S, Gazzo S, Callet-Bauchu E, Gilson E, Magdinier F.

EMBO J. 2009 Aug 19;28(16):2428-36. doi: 10.1038/emboj.2009.201. Epub 2009 Jul 30.


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.


CTCF: master weaver of the genome.

Phillips JE, Corces VG.

Cell. 2009 Jun 26;137(7):1194-211. doi: 10.1016/j.cell.2009.06.001. Review.


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.


The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

Ottaviani A, Rival-Gervier S, Boussouar A, Foerster AM, Rondier D, Sacconi S, Desnuelle C, Gilson E, Magdinier F.

PLoS Genet. 2009 Feb;5(2):e1000394. doi: 10.1371/journal.pgen.1000394. Epub 2009 Feb 27.


Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.

Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.


Characterization and potential function of a novel pre-implantation embryo-specific RING finger protein: TRIML1.

Tian L, Wu X, Lin Y, Liu Z, Xiong F, Han Z, Zhou Y, Zeng Q, Wang Y, Deng J, Chen H.

Mol Reprod Dev. 2009 Jul;76(7):656-64. doi: 10.1002/mrd.20997.


Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells.

Hou R, Sibinga NE.

J Biol Chem. 2009 Mar 13;284(11):6955-65. doi: 10.1074/jbc.M809333200. Epub 2009 Jan 7.


An insulator element 3' to the CFTR gene binds CTCF and reveals an active chromatin hub in primary cells.

Blackledge NP, Ott CJ, Gillen AE, Harris A.

Nucleic Acids Res. 2009 Mar;37(4):1086-94. doi: 10.1093/nar/gkn1056. Epub 2009 Jan 7.


H3K27me3 forms BLOCs over silent genes and intergenic regions and specifies a histone banding pattern on a mouse autosomal chromosome.

Pauler FM, Sloane MA, Huang R, Regha K, Koerner MV, Tamir I, Sommer A, Aszodi A, Jenuwein T, Barlow DP.

Genome Res. 2009 Feb;19(2):221-33. doi: 10.1101/gr.080861.108. Epub 2008 Dec 1.


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.


Chromatin loops in gene regulation.

Kadauke S, Blobel GA.

Biochim Biophys Acta. 2009 Jan;1789(1):17-25. doi: 10.1016/j.bbagrm.2008.07.002. Epub 2008 Jul 15. Review.


Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions.

Guelen L, Pagie L, Brasset E, Meuleman W, Faza MB, Talhout W, Eussen BH, de Klein A, Wessels L, de Laat W, van Steensel B.

Nature. 2008 Jun 12;453(7197):948-51. doi: 10.1038/nature06947. Epub 2008 May 7. Erratum in: Nature. 2013 Aug 8;500(7461):242.


Rex1/Zfp42 is dispensable for pluripotency in mouse ES cells.

Masui S, Ohtsuka S, Yagi R, Takahashi K, Ko MS, Niwa H.

BMC Dev Biol. 2008 Apr 24;8:45. doi: 10.1186/1471-213X-8-45.


Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.

J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.


Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.

Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M.

Nucleic Acids Res. 2008 Apr;36(7):2196-207. doi: 10.1093/nar/gkn055. Epub 2008 Feb 16.


High-resolution mapping and characterization of open chromatin across the genome.

Boyle AP, Davis S, Shulha HP, Meltzer P, Margulies EH, Weng Z, Furey TS, Crawford GE.

Cell. 2008 Jan 25;132(2):311-22. doi: 10.1016/j.cell.2007.12.014.


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.

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