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Items: 1 to 20 of 108

1.

RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

Wallace LM, Liu J, Domire JS, Garwick-Coppens SE, Guckes SM, Mendell JR, Flanigan KM, Harper SQ.

Mol Ther. 2012 Jul;20(7):1417-23. doi: 10.1038/mt.2012.68. Epub 2012 Apr 17.

2.

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics.

Chen JC, King OD, Zhang Y, Clayton NP, Spencer C, Wentworth BM, Emerson CP Jr, Wagner KR.

Mol Ther. 2016 Aug;24(8):1405-11. doi: 10.1038/mt.2016.111. Epub 2016 Jun 3.

3.

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.

Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ.

Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8.

4.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2015 Sep 1;24(17):4817-28. doi: 10.1093/hmg/ddv206. Epub 2015 Jun 3.

5.

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.

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.

Hum Mol Genet. 2012 Oct 15;21(20):4419-30. Epub 2012 Jul 13.

6.

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.

7.

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.

8.

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.

9.

DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients.

Dmitriev P, Bou Saada Y, Dib C, Ansseau E, Barat A, Hamade A, Dessen P, Robert T, Lazar V, Louzada RAN, Dupuy C, Zakharova V, Carnac G, Lipinski M, Vassetzky YS.

Free Radic Biol Med. 2016 Oct;99:244-258. doi: 10.1016/j.freeradbiomed.2016.08.007. Epub 2016 Aug 9.

PMID:
27519269
10.

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model.

Bosnakovski D, Chan SSK, Recht OO, Hartweck LM, Gustafson CJ, Athman LL, Lowe DA, Kyba M.

Nat Commun. 2017 Sep 15;8(1):550. doi: 10.1038/s41467-017-00730-1.

11.

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ.

Hum Mol Genet. 2014 Oct 15;23(20):5342-52. doi: 10.1093/hmg/ddu251. Epub 2014 May 26.

12.

Direct interplay between two candidate genes in FSHD muscular dystrophy.

Ferri G, Huichalaf CH, Caccia R, Gabellini D.

Hum Mol Genet. 2015 Mar 1;24(5):1256-66. doi: 10.1093/hmg/ddu536. Epub 2014 Oct 17.

13.

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM.

Hum Mol Genet. 2013 Feb 1;22(3):568-77. doi: 10.1093/hmg/dds467. Epub 2012 Oct 29.

14.

Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).

Jones TI, Parilla M, Jones PL.

PLoS One. 2016 Mar 4;11(3):e0150938. doi: 10.1371/journal.pone.0150938. eCollection 2016.

15.

AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy.

Bortolanza S, Nonis A, Sanvito F, Maciotta S, Sitia G, Wei J, Torrente Y, Di Serio C, Chamberlain JR, Gabellini D.

Mol Ther. 2011 Nov;19(11):2055-64. doi: 10.1038/mt.2011.153. Epub 2011 Aug 9.

16.

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.

Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK.

Elife. 2015 Jan 7;4. doi: 10.7554/eLife.04996.

17.

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.

Hewitt JE.

Hum Mol Genet. 2015 Oct 15;24(R1):R17-23. doi: 10.1093/hmg/ddv237. Epub 2015 Jun 25. Review.

PMID:
26113644
18.

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.

19.

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM.

PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4.

20.

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.

Hum Genet. 2012 Mar;131(3):325-40. doi: 10.1007/s00439-011-1100-z. Epub 2011 Oct 9. Review.

PMID:
21984394

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