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Results: 15

1.

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
2.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.

Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19.

PMID:
20724583
[PubMed - indexed for MEDLINE]
Free Article
3.

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.

Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, Barro M, Mahieu I, Leroy A, Leclercq I, Mainfroid V, Figlewicz D, Mouly V, Butler-Browne G, Belayew A, Coppée F.

PLoS One. 2009 Oct 15;4(10):e7482. doi: 10.1371/journal.pone.0007482.

PMID:
19829708
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Facioscapulohumeral muscular dystrophy.

Padberg GW, van Engelen BG.

Curr Opin Neurol. 2009 Oct;22(5):539-42. doi: 10.1097/WCO.0b013e328330a572. Review.

PMID:
19724227
[PubMed - indexed for MEDLINE]
5.

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
6.

Facioscapulohumeral muscular dystrophy.

Tawil R.

Neurotherapeutics. 2008 Oct;5(4):601-6. doi: 10.1016/j.nurt.2008.07.005. Review.

PMID:
19019312
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies.

Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppée F, Belayew A, Perlingeiro RR, Kyba M.

EMBO J. 2008 Oct 22;27(20):2766-79. doi: 10.1038/emboj.2008.201. Epub 2008 Oct 2.

PMID:
18833193
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation.

Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, Kyba M.

Exp Neurol. 2008 Nov;214(1):87-96. doi: 10.1016/j.expneurol.2008.07.022. Epub 2008 Aug 6.

PMID:
18723017
[PubMed - indexed for MEDLINE]
9.

Facioscapulohumeral dystrophy.

Pandya S, King WM, Tawil R.

Phys Ther. 2008 Jan;88(1):105-13. Epub 2007 Nov 6. Review.

PMID:
17986494
[PubMed - indexed for MEDLINE]
Free Article
10.

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
11.

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.

PMID:
17924332
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.

Neuromuscul Disord. 2007 Aug;17(8):611-23. Epub 2007 Jun 27.

PMID:
17588759
[PubMed - indexed for MEDLINE]
13.

Intracellular trafficking and dynamics of double homeodomain proteins.

Ostlund C, Garcia-Carrasquillo RM, Belayew A, Worman HJ.

Biochemistry. 2005 Feb 22;44(7):2378-84.

PMID:
15709750
[PubMed - indexed for MEDLINE]
14.

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW.

Lancet. 1990 Sep 15;336(8716):651-3.

PMID:
1975852
[PubMed - indexed for MEDLINE]
15.

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.

Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al.

Nat Genet. 1992 Sep;2(1):26-30.

PMID:
1363881
[PubMed - indexed for MEDLINE]

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