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Items: 1 to 20 of 91


DNA-binding sequence specificity of DUX4.

Zhang Y, Lee JK, Toso EA, Lee JS, Choi SH, Slattery M, Aihara H, Kyba M.

Skelet Muscle. 2016 Jan 28;6:8. doi: 10.1186/s13395-016-0080-z. eCollection 2015.


Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.

Ansseau E, Eidahl JO, Lancelot C, Tassin A, Matteotti C, Yip C, Liu J, Leroy B, Hubeau C, Gerbaux C, Cloet S, Wauters A, Zorbo S, Meyer P, Pirson I, Laoudj-Chenivesse D, Wattiez R, Harper SQ, Belayew A, Coppée F.

PLoS One. 2016 Jan 27;11(1):e0146893. doi: 10.1371/journal.pone.0146893. eCollection 2016.


A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups.

Randolph ME, Pavlath GK.

Front Aging Neurosci. 2015 Oct 7;7:190. doi: 10.3389/fnagi.2015.00190. eCollection 2015. Review.


SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.

Robin JD, Ludlow AT, Batten K, Gaillard MC, Stadler G, Magdinier F, Wright WE, Shay JW.

Genome Res. 2015 Dec;25(12):1781-90. doi: 10.1101/gr.190660.115. Epub 2015 Sep 10.


Genetic and epigenetic contributors to FSHD.

Daxinger L, Tapscott SJ, van der Maarel SM.

Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Review.


Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies.

Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R.

J Neuromuscul Dis. 2015;2(3):291-299.


Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

Rickard AM, Petek LM, Miller DG.

Hum Mol Genet. 2015 Oct 15;24(20):5901-14. doi: 10.1093/hmg/ddv315. Epub 2015 Aug 5.


Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M; Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783.


Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014.

Wyatt EJ, Sweeney HL, McNally EM.

J Neuromuscul Dis. 2014 Jan 1;1(2):197-206.


Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.

Yanovsky-Dagan S, Mor-Shaked H, Eiges R.

World J Stem Cells. 2015 Jun 26;7(5):823-38. doi: 10.4252/wjsc.v7.i5.823. Review.


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(1):37. doi: 10.1186/s13148-015-0072-6. eCollection 2015.


Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.

Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.


Emerging preclinical animal models for FSHD.

Lek A, Rahimov F, Jones PL, Kunkel LM.

Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Review.


DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.

Thijssen PE, Balog J, Yao Z, Pham TP, Tawil R, Tapscott SJ, Van der Maarel SM.

Skelet Muscle. 2014 Oct 24;4:19. doi: 10.1186/2044-5040-4-19. eCollection 2014.


Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation.

Homma S, Beermann ML, Boyce FM, Miller JB.

Ann Clin Transl Neurol. 2015 Feb;2(2):151-66. doi: 10.1002/acn3.158. Epub 2015 Jan 15.


Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences.

Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ.

PLoS One. 2015 Mar 5;10(3):e0118813. doi: 10.1371/journal.pone.0118813. eCollection 2015.


Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R.

J Neuromuscul Dis. 2014;1(2):181-190.


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.


β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.

Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, Zammit PS.

J R Soc Interface. 2015 Jan 6;12(102):20140797.


DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.

Huichalaf C, Micheloni S, Ferri G, Caccia R, Gabellini D.

PLoS One. 2014 Dec 29;9(12):e115278. doi: 10.1371/journal.pone.0115278. eCollection 2014. Erratum in: PLoS One. 2015;10(3):e0119742.

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