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Items: 1 to 20 of 98


Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.

Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE.

Eur J Hum Genet. 2012 Sep;20(9):999-1003. doi: 10.1038/ejhg.2012.42. Epub 2012 Feb 29.


Zscan4 transiently reactivates early embryonic genes during the generation of induced pluripotent stem cells.

Hirata T, Amano T, Nakatake Y, Amano M, Piao Y, Hoang HG, Ko MS.

Sci Rep. 2012;2:208. doi: 10.1038/srep00208. Epub 2012 Jan 4.


Cdx function is required for maintenance of intestinal identity in the adult.

Hryniuk A, Grainger S, Savory JG, Lohnes D.

Dev Biol. 2012 Mar 15;363(2):426-37. doi: 10.1016/j.ydbio.2012.01.010. Epub 2012 Jan 21.


Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.


DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, Tapscott SJ.

Dev Cell. 2012 Jan 17;22(1):38-51. doi: 10.1016/j.devcel.2011.11.013. Epub 2011 Dec 29.


A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.

Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP Jr, Miller JB.

Eur J Hum Genet. 2012 Apr;20(4):404-10. doi: 10.1038/ejhg.2011.213. Epub 2011 Nov 23.


Oscillatory protein expression dynamics endows stem cells with robust differentiation potential.

Suzuki N, Furusawa C, Kaneko K.

PLoS One. 2011;6(11):e27232. doi: 10.1371/journal.pone.0027232. Epub 2011 Nov 3.


A genetic approach to the transcriptional regulation of Hox gene clusters.

Tschopp P, Duboule D.

Annu Rev Genet. 2011;45:145-66. doi: 10.1146/annurev-genet-102209-163429. Review.


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.


Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A, Bensimon A, Lévy N.

Ann Neurol. 2011 Oct;70(4):627-33. doi: 10.1002/ana.22513.


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.


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.


The muscle satellite cell at 50: the formative years.

Scharner J, Zammit PS.

Skelet Muscle. 2011 Aug 17;1(1):28. doi: 10.1186/2044-5040-1-28.


Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.

Cheli S, François S, Bodega B, Ferrari F, Tenedini E, Roncaglia E, Ferrari S, Ginelli E, Meneveri R.

PLoS One. 2011;6(6):e20966. doi: 10.1371/journal.pone.0020966. Epub 2011 Jun 13.


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.


Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

Fitzsimons RB.

Neuromuscul Disord. 2011 Apr;21(4):263-71. doi: 10.1016/j.nmd.2011.02.002. Epub 2011 Mar 4. Review.


HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats.

Mosch K, Franz H, Soeroes S, Singh PB, Fischle W.

PLoS One. 2011 Jan 18;6(1):e15894. doi: 10.1371/journal.pone.0015894.


Taf1 regulates Pax3 protein by monoubiquitination in skeletal muscle progenitors.

Boutet SC, Biressi S, Iori K, Natu V, Rando TA.

Mol Cell. 2010 Dec 10;40(5):749-61. doi: 10.1016/j.molcel.2010.09.029.


A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.

Leidenroth A, Hewitt JE.

BMC Evol Biol. 2010 Nov 26;10:364. doi: 10.1186/1471-2148-10-364.


CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI.

Frisullo G, Frusciante R, Nociti V, Tasca G, Renna R, Iorio R, Patanella AK, Iannaccone E, Marti A, Rossi M, Bianco A, Monforte M, Tonali PA, Mirabella M, Batocchi AP, Ricci E.

J Clin Immunol. 2011 Apr;31(2):155-66. doi: 10.1007/s10875-010-9474-6. Epub 2010 Nov 10.


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