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Items: 1 to 20 of 107

1.

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.

2.

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.

3.

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.

PMID:
16341202
4.

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

Feeney SJ, McGrath MJ, Sriratana A, Gehrig SM, Lynch GS, D'Arcy CE, Price JT, McLean CA, Tupler R, Mitchell CA.

PLoS One. 2015 Feb 19;10(2):e0117665. doi: 10.1371/journal.pone.0117665. eCollection 2015.

5.

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation.

Bodega B, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E.

BMC Biol. 2009 Jul 16;7:41. doi: 10.1186/1741-7007-7-41.

6.

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.

7.

RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

Wallace LM, Garwick-Coppens SE, Tupler R, Harper SQ.

Mol Ther. 2011 Nov;19(11):2048-54. doi: 10.1038/mt.2011.118. Epub 2011 Jul 5.

8.

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

Pistoni M, Shiue L, Cline MS, Bortolanza S, Neguembor MV, Xynos A, Ares M Jr, Gabellini D.

PLoS Genet. 2013;9(1):e1003186. doi: 10.1371/journal.pgen.1003186. Epub 2013 Jan 3.

9.

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.

PMID:
17151338
10.

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.

11.

Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.

Hanel ML, Sun CY, Jones TI, Long SW, Zanotti S, Milner D, Jones PL.

Differentiation. 2011 Feb;81(2):107-18. doi: 10.1016/j.diff.2010.09.185.

12.

Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy.

D'Antona G, Brocca L, Pansarasa O, Rinaldi C, Tupler R, Bottinelli R.

J Physiol. 2007 Nov 1;584(Pt 3):997-1009. Epub 2007 Sep 13.

13.

Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.

Bisset DR, Stepniak-Konieczna EA, Zavaljevski M, Wei J, Carter GT, Weiss MD, Chamberlain JR.

Hum Mol Genet. 2015 Sep 1;24(17):4971-83. doi: 10.1093/hmg/ddv219. Epub 2015 Jun 16.

14.

FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy.

Wuebbles RD, Hanel ML, Jones PL.

Dis Model Mech. 2009 May-Jun;2(5-6):267-74. doi: 10.1242/dmm.002261. Epub 2009 Apr 21.

15.

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.

Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M.

Hum Mol Genet. 2003 Nov 15;12(22):2909-21. Epub 2003 Sep 23.

PMID:
14506132
16.

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.

17.

Testing the effects of FSHD candidate gene expression in vertebrate muscle development.

Wuebbles RD, Long SW, Hanel ML, Jones PL.

Int J Clin Exp Pathol. 2010 Mar 28;3(4):386-400.

18.

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
19.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Curr Neurol Neurosci Rep. 2004 Jan;4(1):51-4. Review.

PMID:
14683629
20.

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.

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