| 1 | DUX4, SMCHD1
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| SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
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| Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.
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| Nucleic Acids Res 47(6):2822-2839. doi: 10.1093/nar/gkz005.
2019
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| 2 | DUX4, DUXB
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| Connect-four: genomic analyses of regenerating stem cells identifies zygotic Dux factors as tumor initiators.
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| Preussner J, Zhong J, Looso M, Braun T, Kim J.
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| Mol Cell Oncol 6(2):1565469. doi: 10.1080/23723556.2019.1565469. eCollection 2019.
2019
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| 3 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
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| Mah JK, Chen YW.
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| J Pediatr Neurol 16(4):222-231. doi: 10.1055/s-0037-1604197.
2018
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| 4 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
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| Hum Mol Genet 27(20):3488-3497. doi: 10.1093/hmg/ddy236.
2018
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| 5 | DUX4, LMCD1
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| Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.
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| Ansseau E, Eidahl JO, Lancelot C, Tassin A, Matteotti C, Yip C, Liu J, Leroy B, Hubeau C, Gerbaux C, Cloet S, Wauters A, Zorbo S, Meyer P, Pirson I, Laoudj-Chenivesse D, Wattiez R, Harper SQ, Belayew A, Coppée F.
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| PLoS One 11(1):e0146893. doi: 10.1371/journal.pone.0146893. eCollection 2016.
2016
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| 6 | CDKN1A, DUX4
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| Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression.
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| Xu H, Wang Z, Jin S, Hao H, Zheng L, Zhou B, Zhang W, Lv H, Yuan Y.
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| Biochem Biophys Res Commun 446(1):235-40. doi: 10.1016/j.bbrc.2014.02.105. Epub 2014 Feb 28. Erratum in: Biochem Biophys Res Commun. 2014 Jul 18;450(1):927 2014
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| 7 | DUX4
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| DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
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| Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ.
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| Hum Mol Genet um Mol Genet. 2014 May 26. pii: ddu251. [Epub ahead of print]
2014
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| 8 | DUX4
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| Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.
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| Himeda CL, Debarnot C, Homma S, Beermann ML, Miller JB, Jones PL, Jones TI.
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| Mol Cell Biol 34(11):1942-55. doi: 10.1128/MCB.00149-14. Epub 2014 Mar 17.
2014
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| 9 | DUX4, MBD3L2, TRIM43
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| DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
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| 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.
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| Hum Mol Genet 23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20.
2014
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| 10 | DUX4
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| DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.
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| Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.
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| PLoS Genet 9(11):e1003947. doi: 10.1371/journal.pgen.1003947. Epub 2013 Nov 21.
2013
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| 11 | DUX4
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| Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
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| Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG.
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| Hum Mol Genet 22(23):4661-72. doi: 10.1093/hmg/ddt314. Epub 2013 Jul 2.
2013
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| 12 | DUX4, FSHMD1A
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| Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy.
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| Stadler G, Rahimov F, King OD, Chen JC, Robin JD, Wagner KR, Shay JW, Emerson CP Jr, Wright WE.
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| Nat Struct Mol Biol 20(6):671-8. doi: 10.1038/nsmb.2571. Epub 2013 May 5.
2013
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| 13 | DUX4, FSHMD1A, PITX1
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| DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
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| Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A.
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| J Cell Mol Med 17(1):76-89. doi: 10.1111/j.1582-4934.2012.01647.x. Epub 2012 Dec 4. 2013
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| 14 | DUX4, FSHMD1A
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| Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.
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| Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG.
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| PLoS One 7(4):e35532. doi: 10.1371/journal.pone.0035532. Epub 2012 Apr 20.
2012
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| 15 | DUX4, FSHMD1A
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| Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
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| Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL.
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| Hum Mol Genet 21(20):4419-30. Epub 2012 Jul 13.
2012
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| 16 | D4Z4, DUX4, DUXA, DUXB
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| Evolution of DUX gene macrosatellites in placental mammals.
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| Leidenroth A, Clapp J, Mitchell LM, Coneyworth D, Dearden FL, Iannuzzi L, Hewitt JE.
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| Chromosoma 121(5):489-97. doi: 10.1007/s00412-012-0380-y. Epub 2012 Aug 18.
2012
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| 17 | DUX4, FSHMD1A
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| Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
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| van der Maarel SM, Tawil R, Tapscott SJ.
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| Trends Mol Med 17(5):252-8. Epub 2011 Feb 1. Review.
2011
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| 18 | DUX4
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| The FSHD atrophic myotube phenotype is caused by DUX4 expression.
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| Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A.
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| PLoS One 6(10):e26820. doi: 10.1371/journal.pone.0026820. Epub 2011 Oct 28.
2011
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| 19 | DUX4, FSHMD1A
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| A unifying genetic model for facioscapulohumeral muscular dystrophy.
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| Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.
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| Science 329(5999):1650-3. Epub 2010 Aug 19.
2010
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| 20 | DUX4, FSHMD1A
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| FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis).
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| Pearson CE.
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| PLoS Genet 6(10):e1001180. No abstract available.
2010
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| 21 | DUX4, FSHMD1A
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| Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
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| Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.
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| PLoS Genet 6(10):e1001181.
2010
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| 22 | DUX4, DUXA, DUXB, FSHMD1A
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| A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.
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| Leidenroth A, Hewitt JE.
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| BMC Evol Biol 10:364. doi: 10.1186/1471-2148-10-364.
2010
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| 23 | DUX4, FSHMD1A
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| RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
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| 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.
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| Hum Mol Genet 18(13):2414-30. Epub 2009 Apr 9.
2009
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| 24 | CIC, DUX4
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| Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event.
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| Yoshimoto M, Graham C, Chilton-MacNeill S, Lee E, Shago M, Squire J, Zielenska M, Somers GR.
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| Cancer Genet Cytogenet 195(1):1-11. Erratum in: Cancer Genet Cytogenet. 2010 Feb;197(1):99.
2009
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| 25 | DUX4,D4Z4,FSHMD1A
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| Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy.
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| Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, Scotting PJ, Armour JA, Hewitt JE.
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| Am J Hum Genet 81(2):264-79. Epub 2007 Jun 27. 2007
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| 26 | DUX4, PITX1, FSHMD1A
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| DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
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| Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, MattŽotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, CoppŽe F, Chen YW.
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| Proc Natl Acad Sci U S A 104(46):18157-62. Epub 2007 Nov 5. 2007
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| 27 | DUX4, FSHMD1A
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| The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.
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| 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.
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| Neuromuscul Disord 17(8):611-23. Epub 2007 Jun 27.
2007
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| 28 | CIC, DUX4, ETV1
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| Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
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| Kawamura-Saito M, Yamazaki Y, Kaneko K, Kawaguchi N, Kanda H, Mukai H, Gotoh T, Motoi T, Fukayama M, Aburatani H, Takizawa T, Nakamura T.
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| Hum Mol Genet 15(13):2125-37. Epub 2006 May 22.
2006
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| 29 | DUX1, DUX2, DUX4
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| Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.
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| Beckers M, Gabriëls J, van der Maarel S, De Vriese A, Frants RR, Collen D, Belayew A.
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| Gene 264(1):51-7.
2001
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| 30 | DUX4
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| Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
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| Gabriels J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A.
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| Gene 236(1):25-32 1999
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