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Items: 1 to 20 of 132

1.

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
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.

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.

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.

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.

6.

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
7.

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.

8.

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.

9.
10.

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D.

Cell Mol Life Sci. 2004 Mar;61(5):557-566. doi: 10.1007/s00018-003-3285-3. Review.

PMID:
15004695
11.

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST.

Eur J Hum Genet. 2010 Apr;18(4):448-56. doi: 10.1038/ejhg.2009.183. Epub 2009 Nov 4.

12.

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
13.

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).

Sancisi V, Germinario E, Esposito A, Morini E, Peron S, Moggio M, Tomelleri G, Danieli-Betto D, Tupler R.

Am J Physiol Regul Integr Comp Physiol. 2014 Jan 15;306(2):R124-37. doi: 10.1152/ajpregu.00379.2013. Epub 2013 Dec 4.

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.

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.

Grewal PK, van Deutekom JC, Mills KA, Lemmers RJ, Mathews KD, Frants RR, Hewitt JE.

Mamm Genome. 1997 Jun;8(6):394-8.

PMID:
9166581
16.

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.

17.

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.

Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7.

18.

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.

19.

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.

20.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.

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.

J Med Genet. 2004 Nov;41(11):826-36.

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