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Items: 1 to 20 of 194

1.

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD.

Jagannathan S, Ogata Y, Gafken PR, Tapscott SJ, Bradley RK.

Elife. 2019 Jan 15;8. pii: e41740. doi: 10.7554/eLife.41740. [Epub ahead of print]

2.

Single-cell RNA-sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Heuvel AVD, Mahfouz A, Kloet SL, Balog J, Engelen BGMV, Tawil R, Tapscott SJ, Maarel SMV.

Hum Mol Genet. 2018 Nov 16. doi: 10.1093/hmg/ddy400. [Epub ahead of print]

PMID:
30445587
3.

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN.

Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364.

PMID:
30312408
4.

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.

Hiramuki Y, Tapscott SJ.

Skelet Muscle. 2018 Aug 2;8(1):24. doi: 10.1186/s13395-018-0172-z.

5.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
6.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN.

Hum Mol Genet. 2018 May 8. doi: 10.1093/hmg/ddy173. [Epub ahead of print]

PMID:
29741619
7.

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle.

Campbell AE, Belleville AE, Resnick R, Shadle SC, Tapscott SJ.

Hum Mol Genet. 2018 Aug 1;27(R2):R153-R162. doi: 10.1093/hmg/ddy162.

PMID:
29718206
8.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.

J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.

PMID:
29563141
9.

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.

Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ.

Elife. 2018 Mar 13;7. pii: e31023. doi: 10.7554/eLife.31023.

10.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437.

PMID:
29281018
11.

Impediment of Replication Forks by Long Non-coding RNA Provokes Chromosomal Rearrangements by Error-Prone Restart.

Watanabe T, Marotta M, Suzuki R, Diede SJ, Tapscott SJ, Niida A, Chen X, Mouakkad L, Kondratova A, Giuliano AE, Orsulic S, Tanaka H.

Cell Rep. 2017 Nov 21;21(8):2223-2235. doi: 10.1016/j.celrep.2017.10.103.

12.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

13.

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R, van der Maarel SM, Tapscott SJ, Sverdrup FM.

Skelet Muscle. 2017 Sep 4;7(1):16. doi: 10.1186/s13395-017-0134-x.

14.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.

Skelet Muscle. 2017 Jun 6;7(1):12. doi: 10.1186/s13395-017-0129-7.

15.

Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons.

Hendrickson PG, Doráis JA, Grow EJ, Whiddon JL, Lim JW, Wike CL, Weaver BD, Pflueger C, Emery BR, Wilcox AL, Nix DA, Peterson CM, Tapscott SJ, Carrell DT, Cairns BR.

Nat Genet. 2017 Jun;49(6):925-934. doi: 10.1038/ng.3844. Epub 2017 May 1.

16.

Conservation and innovation in the DUX4-family gene network.

Whiddon JL, Langford AT, Wong CJ, Zhong JW, Tapscott SJ.

Nat Genet. 2017 Jun;49(6):935-940. doi: 10.1038/ng.3846. Epub 2017 May 1.

17.

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.

Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong CJ, Morello TD, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2017 Mar 8;13(3):e1006658. doi: 10.1371/journal.pgen.1006658. eCollection 2017 Mar.

18.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ.

Hum Mol Genet. 2016 Oct 15;25(20):4419-4431. doi: 10.1093/hmg/ddw271.

19.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

20.

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. No abstract available.

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