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Results: 1 to 20 of 103

1.

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.

PMID:
24636994
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22798623
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
19607661
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
21060811
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23108159
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23206257
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21951698
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2013 Nov;9(11):e1003947. doi: 10.1371/journal.pgen.1003947. Epub 2013 Nov 21.

PMID:
24278031
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
23593020
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG.

PLoS One. 2012;7(4):e35532. doi: 10.1371/journal.pone.0035532. Epub 2012 Apr 20.

PMID:
22536400
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
22053214
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
21288772
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
20490329
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
22718021
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

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.

Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.

PMID:
19359275
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. Epub 2007 Nov 5.

PMID:
17984056
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG.

Hum Mol Genet. 2013 Dec 1;22(23):4661-72. doi: 10.1093/hmg/ddt314. Epub 2013 Jul 2.

PMID:
23821646
[PubMed - indexed for MEDLINE]
Free PMC Article
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