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Results: 1 to 20 of 65

2.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2015 Jun 3. pii: ddv206. [Epub ahead of print]

PMID:
26041815
3.

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.

PMID:
25820463
4.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

van den Boogaard ML, Jfl Lemmers R, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2015 Mar 18. doi: 10.1038/ejhg.2015.55. [Epub ahead of print]

PMID:
25782668
5.

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.

6.

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.

Statland JM, Shah B, Henderson D, Van Der Maarel S, Tapscott SJ, Tawil R.

Muscle Nerve. 2015 Feb 23. doi: 10.1002/mus.24621. [Epub ahead of print]

PMID:
25704033
7.

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.

8.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

PMID:
25256356
9.

Facioscapulohumeral muscular dystrophy.

Statland J, Tawil R.

Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. Review.

PMID:
25037087
10.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ.

Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Review.

11.

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.

PMID:
24861551
12.

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR Jr, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.

Hum Mutat. 2014 Aug;35(8):998-1010. doi: 10.1002/humu.22593. Epub 2014 Jun 24.

13.

Restrictive lung involvement in facioscapulohumeral muscular dystrophy.

Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland JM.

Muscle Nerve. 2014 Nov;50(5):739-43. doi: 10.1002/mus.24218. Epub 2014 Sep 29.

PMID:
24639337
14.

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.

15.

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.

16.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.

Am J Hum Genet. 2013 Oct 3;93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.

17.

Risk of functional impairment in Facioscapulohumeral muscular dystrophy.

Statland JM, Tawil R.

Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10.

PMID:
23873337
18.

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.

19.

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.

20.

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R.

Neurology. 2013 Mar 26;80(13):1247-50. doi: 10.1212/WNL.0b013e3182897116. Epub 2013 Feb 27.

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