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Items: 1 to 20 of 164

1.

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.

2.

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.

3.

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.

4.

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.

5.

Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.

Himeda CL, Debarnot C, Homma S, Beermann ML, Miller JB, Jones PL, Jones TI.

Mol Cell Biol. 2014 Jun;34(11):1942-55. doi: 10.1128/MCB.00149-14. Epub 2014 Mar 17.

6.

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.

7.

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.

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.

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.

10.

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

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.

Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20.

PMID:
23966205
11.

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.

12.

CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.

Himeda CL, Jones TI, Jones PL.

Mol Ther. 2016 Mar;24(3):527-35. doi: 10.1038/mt.2015.200. Epub 2015 Nov 3.

13.

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.

Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP Jr, Miller JB, Wagner KR, Jones PL.

Clin Epigenetics. 2015 Mar 29;7:37. doi: 10.1186/s13148-015-0072-6. eCollection 2015.

14.

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.

15.

Gene expression during normal and FSHD myogenesis.

Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M.

BMC Med Genomics. 2011 Sep 27;4:67. doi: 10.1186/1755-8794-4-67.

16.

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R.

Curr Opin Neurol. 2011 Oct;24(5):423-8. doi: 10.1097/WCO.0b013e32834959af. Review.

PMID:
21734574
17.

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17.

PMID:
23777630
18.

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

van der Maarel SM, Tawil R, Tapscott SJ.

Trends Mol Med. 2011 May;17(5):252-8. doi: 10.1016/j.molmed.2011.01.001. Epub 2011 Feb 1. Review.

19.

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.

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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