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Items: 1 to 50 of 198

1.

TWIST1 Heterodimerization with E12 Requires Coordinated Protein Phosphorylation to Regulate Periostin Expression.

Mikheeva SA, Camp ND, Huang L, Jain A, Jung SY, Avci NG, Tokita M, Wolf-Yadlin A, Zhang J, Tapscott SJ, Rostomily RC, Mikheev AM.

Cancers (Basel). 2019 Sep 18;11(9). pii: E1392. doi: 10.3390/cancers11091392.

2.

DUX4 Suppresses MHC Class I to Promote Cancer Immune Evasion and Resistance to Checkpoint Blockade.

Chew GL, Campbell AE, De Neef E, Sutliff NA, Shadle SC, Tapscott SJ, Bradley RK.

Dev Cell. 2019 Sep 9;50(5):658-671.e7. doi: 10.1016/j.devcel.2019.06.011. Epub 2019 Jul 18.

PMID:
31327741
3.

Insights into pediatric rhabdomyosarcoma research: Challenges and goals.

Yohe ME, Heske CM, Stewart E, Adamson PC, Ahmed N, Antonescu CR, Chen E, Collins N, Ehrlich A, Galindo RL, Gryder BE, Hahn H, Hammond S, Hatley ME, Hawkins DS, Hayes MN, Hayes-Jordan A, Helman LJ, Hettmer S, Ignatius MS, Keller C, Khan J, Kirsch DG, Linardic CM, Lupo PJ, Rota R, Shern JF, Shipley J, Sindiri S, Tapscott SJ, Vakoc CR, Wexler LH, Langenau DM.

Pediatr Blood Cancer. 2019 Oct;66(10):e27869. doi: 10.1002/pbc.27869. Epub 2019 Jun 21. Review.

PMID:
31222885
4.

Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy.

Oliva J, Galasinski S, Richey A, Campbell AE, Meyers MJ, Modi N, Zhong JW, Tawil R, Tapscott SJ, Sverdrup FM.

J Pharmacol Exp Ther. 2019 Aug;370(2):219-230. doi: 10.1124/jpet.119.259663. Epub 2019 Jun 12.

PMID:
31189728
5.

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

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

Elife. 2019 Jan 15;8. pii: e41740. doi: 10.7554/eLife.41740.

6.

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

van den Heuvel A, Mahfouz A, Kloet SL, Balog J, van Engelen BGM, Tawil R, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2019 Apr 1;28(7):1064-1075. doi: 10.1093/hmg/ddy400.

PMID:
30445587
7.

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
8.

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.

9.

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.

10.

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]

11.

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. Review.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

Distinct Activities of Myf5 and MyoD Indicate Separate Roles in Skeletal Muscle Lineage Specification and Differentiation.

Conerly ML, Yao Z, Zhong JW, Groudine M, Tapscott SJ.

Dev Cell. 2016 Feb 22;36(4):375-85. doi: 10.1016/j.devcel.2016.01.021.

26.

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ; FSHD Workshop Participants.

Neuromuscul Disord. 2016 Feb;26(2):181-6. doi: 10.1016/j.nmd.2015.10.005. Epub 2015 Nov 9. No abstract available.

PMID:
26627872
27.

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, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Erratum in: Epigenetics. 2016;11(2):175.

28.

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R.

Neurology. 2015 Dec 15;85(24):2147-50. doi: 10.1212/WNL.0000000000002217. Epub 2015 Nov 11.

29.

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.

30.

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.

31.

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 Sep 1;24(17):4817-28. doi: 10.1093/hmg/ddv206. Epub 2015 Jun 3.

32.

Conversion of MyoD to a neurogenic factor: binding site specificity determines lineage.

Fong AP, Yao Z, Zhong JW, Johnson NM, Farr GH 3rd, Maves L, Tapscott SJ.

Cell Rep. 2015 Mar 31;10(12):1937-46. doi: 10.1016/j.celrep.2015.02.055. Epub 2015 Mar 19.

33.

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

van den Boogaard ML, Lemmers RJ, 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. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

34.

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.

35.

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 Oct;52(4):521-6. doi: 10.1002/mus.24621. Epub 2015 Jun 18.

36.

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.

37.

p53 suppresses muscle differentiation at the myogenin step in response to genotoxic stress.

Yang ZJ, Broz DK, Noderer WL, Ferreira JP, Overton KW, Spencer SL, Meyer T, Tapscott SJ, Attardi LD, Wang CL.

Cell Death Differ. 2015 Apr;22(4):560-73. doi: 10.1038/cdd.2014.189. Epub 2014 Dec 12.

38.

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.

39.

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.

40.

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.

41.

Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model.

Wang Z, Halbert CL, Lee D, Butts T, Tapscott SJ, Storb R, Miller AD.

Gene Ther. 2014 Apr;21(4):363-70. doi: 10.1038/gt.2014.4. Epub 2014 Feb 6.

42.

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.

43.

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.

44.

Genome-wide binding of the basic helix-loop-helix myogenic inhibitor musculin has substantial overlap with MyoD: implications for buffering activity.

MacQuarrie KL, Yao Z, Fong AP, Tapscott SJ.

Skelet Muscle. 2013 Nov 1;3(1):26. doi: 10.1186/2044-5040-3-26.

45.

Discriminative motif analysis of high-throughput dataset.

Yao Z, Macquarrie KL, Fong AP, Tapscott SJ, Ruzzo WL, Gentleman RC.

Bioinformatics. 2014 Mar 15;30(6):775-83. doi: 10.1093/bioinformatics/btt615. Epub 2013 Oct 25.

46.

Fundamental differences in promoter CpG island DNA hypermethylation between human cancer and genetically engineered mouse models of cancer.

Diede SJ, Yao Z, Keyes CC, Tyler AE, Dey J, Hackett CS, Elsaesser K, Kemp CJ, Neiman PE, Weiss WA, Olson JM, Tapscott SJ.

Epigenetics. 2013 Dec;8(12):1254-60. doi: 10.4161/epi.26486. Epub 2013 Oct 9.

47.

MyoD is a tumor suppressor gene in medulloblastoma.

Dey J, Dubuc AM, Pedro KD, Thirstrup D, Mecham B, Northcott PA, Wu X, Shih D, Tapscott SJ, LeBlanc M, Taylor MD, Olson JM.

Cancer Res. 2013 Nov 15;73(22):6828-37. doi: 10.1158/0008-5472.CAN-13-0730-T. Epub 2013 Oct 3.

48.

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.

49.

Clinical trial preparedness in facioscapulohumeral dystrophy: outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands.

Tawil R, Shaw DW, van der Maarel SM, Tapscott SJ.

Neuromuscul Disord. 2014 Jan;24(1):79-85. doi: 10.1016/j.nmd.2013.07.009. Epub 2013 Aug 2. No abstract available.

PMID:
24011701
50.

Pbx and Prdm1a transcription factors differentially regulate subsets of the fast skeletal muscle program in zebrafish.

Yao Z, Farr GH 3rd, Tapscott SJ, Maves L.

Biol Open. 2013 Apr 8;2(6):546-55. doi: 10.1242/bio.20133921. Print 2013 Jun 15.

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