1 | D4Z4, DUX4L9, FRG2, KLF15
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| The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy.
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| 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.
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| J Biol Chem 286(52):44620-31. doi: 10.1074/jbc.M111.254052. Epub 2011 Sep 21.
2011
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2 | FRG2, MECP2, SLC25A4, YY1
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| The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
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| Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 19(16):3114-23. Epub 2010 May 26.PMID: 20504995 2010
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3 | FRG2, FRG2B, FRG2L, FSHMD1A
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| FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
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| 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.
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| J Med Genet 41(11):826-36. 2004
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