2023

Arends T, Tsuchida H, Adeyemi RO, Tapscott SJ; DUX4-induced HSATII transcription causes KDM2A/B–PRC1 nuclear foci and impairs DNA damage response. J Cell Biol 6 May 2024; 223 (5): e202303141.

Hamm DC, Paatela EM, Bennett SR, Wong C-J, Campbell AE, Wladyka CL, et al. (2023) The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs. PLoS Biol 21(9): e3002317. 

Smith AA, Nip Y, Bennett SR, Hamm DC, Lemmers RJLF, van der Vliet PJ, Setty M, van der Maarel SM, Tapscott SJ. DUX4 expression in cancer induces a metastable early embryonic totipotent program. Cell Rep. 2023 Sep 26;42(9):113114. 

Nip Y, Bennett SR, Smith AA, Jones TI, Jones PL, Tapscott SJ. Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD. Hum Mol Genet. 2023 May 18;32(11):1864-1874. 

Spens AE, Sutliff NA, Bennett SR, Campbell AE, Tapscott SJ. Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction. Elife. 2023 Apr 24;12. 

Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SRM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design. bioRxiv. 2023 Feb 20. 

Tihaya MS, Mul K, Balog J, de Greef JC, Tapscott SJ, Tawil R, Statland JM, van der Maarel SM. Facioscapulohumeral muscular dystrophy: the road to targeted therapies. Nat Rev Neurol. 2023 Feb;19(2):91-108. 

2022

Crist SB, Nemkov T, Dumpit RF, Dai J, Tapscott SJ, True LD, Swarbrick A, Sullivan LB, Nelson PS, Hansen KC, Ghajar CM. Publisher Correction: Unchecked oxidative stress in skeletal muscle prevents outgrowth of disseminated tumour cells. Nat Cell Biol. 2022 Jul;24(7):1177. 

Wong CJ, Wang L, Holers VM, Frazer-Abel A, van der Maarel SM, Tawil R, Statland JM, Tapscott SJ. Elevated plasma complement components in facioscapulohumeral dystrophy. Hum Mol Genet. 2022 Jun 4;31(11):1821-1829. 

Wong CJ, Whiddon JL, Langford AT, Belleville AE, Tapscott SJ. Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD. Hum Mol Genet. 2022 May 19;31(10):1694-1704. 

Crist SB, Nemkov T, Dumpit RF, Dai J, Tapscott SJ, True LD, Swarbrick A, Sullivan LB, Nelson PS, Hansen KC, Ghajar CM. Unchecked oxidative stress in skeletal muscle prevents outgrowth of disseminated tumour cells. Nat Cell Biol. 2022 Apr;24(4):538-553.

Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. J Med Genet. 2022 Feb;59(2):180-188. 

van den Heuvel A, Lassche S, Mul K, Greco A, San León Granado D, Heerschap A, Küsters B, Tapscott SJ, Voermans NC, van Engelen BGM, van der Maarel SM. Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers. Sci Rep. 2022 Jan 26;12(1):1426. 

2021

Goossens R, Tihaya MS, van den Heuvel A, Tabot-Ndip K, Willemsen IM, Tapscott SJ, González-Prieto R, Chang JG, Vertegaal ACO, Balog J, van der Maarel SM. A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression. Sci Rep. 2021 Dec 8;11(1):23642. 

Bouwman LF, den Hamer B, van den Heuvel A, Franken M, Jackson M, Dwyer CA, Tapscott SJ, Rigo F, van der Maarel SM, de Greef JC. Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy. Mol Ther Nucleic Acids. 2021 Dec 3;26:813-827.

Wang LH, Shaw DWW, Faino A, Budech CB, Lewis LM, Statland J, Eichinger K, Tapscott SJ, Tawil RN, Friedman SD. Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy. BMC Musculoskelet Disord. 2021 Mar 10;22(1):262. 

2020

Bouwman LF, van der Maarel SM, de Greef JC. The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy. Curr Opin Neurol. 2020 Oct;33(5):635-640. 

Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020 Jun 9;94(23):e2441-e2447.

2019

Shadle SC, Bennett SR, Wong CJ, Karreman NA, Campbell AE, van der Maarel SM, Bass BL, Tapscott SJ. DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD. Hum Mol Genet. 2019 Dec 1;28(23):3997-4011. 

Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing. J Med Genet. 2019 Dec;56(12):828-837. 

Resnick R, Wong CJ, Hamm DC, Bennett SR, Skene PJ, Hake SB, Henikoff S, van der Maarel SM, Tapscott SJ. DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression. Cell Rep. 2019 Nov 12;29(7):1812-1820.e5. 

Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. J Med Genet. 2019 Oct;56(10):693-700. 

Chew GL, Campbell AE, De Neef E, Sutliff NA, Shadle SC, Tapscott SJ, Bradley RK. DUX4 Suppresses MHC Class I to Promote Cancer Immune Evasion and Resistance to Checkpoint Blockade. Dev Cell. 2019 Sep 9;50(5):658-671.e7. 

Oliva J, Galasinski S, Richey A, Campbell AE, Meyers MJ, Modi N, Zhong JW, Tawil R, Tapscott SJ, Sverdrup FM. Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy. J Pharmacol Exp Ther. 2019 Aug;370(2):219-230. 

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. FSHD1 and FSHD2 form a disease continuum. Neurology. 2019 May 7;92(19):e2273-e2285. 

van den Heuvel A, Mahfouz A, Kloet SL, Balog J, van Engelen BGM, Tawil R, Tapscott SJ, van der Maarel SM. Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development. Hum Mol Genet. 2019 Apr 1;28(7):1064-1075. 

Jagannathan S, Ogata Y, Gafken PR, Tapscott SJ, Bradley RK. Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy. Elife. 2019 Jan 15;8. 

2018

Heuvel AVD, Mahfouz A, Kloet SL, Balog J, Engelen BGMV, Tawil R, Tapscott SJ, Maarel SMV (2018). Single-cell RNA-sequencing in facioscapulohumeral muscular dystrophy disease etiology and development. Human Molecular Genetics. doi: 10.1093/hmg/ddy400

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 (2018). FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. Neurology. doi: 10.1212/WNL.0000000000005958

Hiramuki Y, Tapscott SJ (2018). Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage. Skeletal Muscle. doi: 10.1186/s13395-018-0172-z

Campbell AE, Belleville AE, Resnick R, Shadle SC, Tapscott SJ (2018). Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle. Human Molecular Genetics. doi: 10.1093/hmg/ddy162

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 (2018). Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. Journal of Medical Genetics. doi: 10.1136/jmedgenet-2017-105153

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN (2018). Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures. Human Molecular Genetics. doi: 10.1093/hmg/ddy173

Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ (2018). NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins. eLife. doi: 10.7554/eLife.31023

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 (2018). Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. Human Molecular Genetics. doi: 10.1093/hmg/ddx437

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 (2018). Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. European Journal of Human Genetics. doi: 10.1038/s41431-017-0015-0
 

2017

Watanabe T, Marotta M, Suzuki R, Diede SJ, Tapscott SJ, Niida A, Chen X, Mouakkad L, Kondratova A, Giuliano AE, Orsulic S, Tanaka H (2017). Impediment of replication forks by long non-coding RNA provokes chromosomal rearrangements by error-prone restart. Cell Reports. doi: 10.1016/j.celrep.2017.10.103

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 (2017). BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells. Skeletal Muscle. doi: 10.1186/s13395-017-0134-x

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 (2017). SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. Skeletal Muscle. doi: 10.1186/s13395-017-0129-7

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 (2017). Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons. Nature Genetics. doi: 10.1038/ng.3844

Whiddon JL, Langford AT, Wong CJ, Zhong JW, Tapscott SJ (2017). Conservation and innovation in the DUX4-family gene network. Nature Genetics. doi: 10.1038/ng.3846

Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong CJ, Morello TD, van der Maarel SM, Tapscott SJ (2017). DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy. PLoS Genetics. doi: 10.1371/journal.pgen.1006658
 

2016

Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ (2016). Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells. Human Molecular Genetics. doi: 10.1093/hmg/ddw271

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 (2016). Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2016.03.013

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 (2016). Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. Epigenetics. doi: 10.1080/15592294.2016.1161273

Conerly ML, Yao Z, Zhong JW, Groudine M, Tapscott SJ (2016). Distinct activities of Myf5 and MyoD indicate separate roles in skeletal muscle lineage specification and differentiation. Developmental Cell. doi: 10.1016/j.devcel.2016.01.021

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ; FSHD Workshop Participants (2016). Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York. Neuromuscular Disorders. doi: 10.1016/j.nmd.2015.10.005

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 (2016). Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. European Journal of Human Genetics. doi: 10.1038/ejhg.2015.55
 

2015

Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R (2015). Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats. Neurology. doi: 10.1212/WNL.0000000000002217

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 (2015). Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. Epigenetics. doi: 10.1080/15592294.2015.1113798

Statland JM, Shah B, Henderson D, Van Der Maarel S, Tapscott SJ, Tawil R (2015). Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle & Nerve. doi: 10.1002/mus.24621

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ (2015). DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD. Human Molecular Genetics. doi: 10.1093/hmg/ddv206

Daxinger L, Tapscott SJ, van der Maarel SM (2015). Genetic and epigenetic contributors to FSHD. Current Opinion in Genetics & Development. doi: 10.1016/j.gde.2015.08.007

Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R (2015). Immunohistochemical characterization of facioscapulohumeral muscular dystrophy muscle biopsies. Journal of Neuromuscular Diseases. doi: 10.3233/JND-150077

Yang ZJ, Broz DK, Noderer WL, Ferreira JP, Overton KW, Spencer SL, Meyer T, Tapscott SJ, Attardi LD, Wang CL (2015). p53 suppresses muscle differentiation at the myogenin step in response to genotoxic stress. Cell Death and Differentiation. doi: 10.1038/cdd.2014.189

Fong AP, Yao Z, Zhong JW, Johnson NM, Farr GH 3rd, Maves L, Tapscott SJ (2015). Conversion of MyoD to a neurogenic factor: binding site specificity determines lineage. Cell Reports. doi: 10.1016/j.celrep.2015.02.055

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 (2015). Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Human Molecular Genetics. doi: 10.1093/hmg/ddu486

Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK (2015). A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy. eLife. doi: 10.7554/eLife.04996
 

2014

Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R (2014). Multiplex screen of serum biomarkers in facioscapulohumeral muscular dystrophy. Journal of Neuromuscular Diseases. doi: 10.3233/JND-140034

Thijssen PE, Balog J, Yao Z, Pham TP, Tawil R, Tapscott SJ, Van der Maarel SM (2014). DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy. Skeletal Muscle. doi: 10.1186/2044-5040-4-19

Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ (2014). DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Human Molecular Genetics. doi: 10.1093/hmg/ddu251

Tawil R, van der Maarel SM, Tapscott SJ (2014). Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skeletal Muscle. doi: 10.1186/2044-5040-4-12

Wang Z, Halbert CL, Lee D, Butts T, Tapscott SJ, Storb R, Miller AD (2014). Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model. Gene Therapy. doi: 10.1038/gt.2014.4

Yao Z, MacQuarrie KL, Fong AP, Tapscott SJ, Ruzzo WL, Gentleman RC (2014). Discriminative motif analysis of high-throughput dataset. Bioinformatics. doi: 10.1093/bioinformatics/btt615

Tawil R, Shaw DW, van der Maarel SM, Tapscott SJ (2014). Clinical trial preparedness in facioscapulohumeral dystrophy: outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands. Neuromuscular Disorders. doi: 10.1016/j.nmd.2013.07.009
 

2013

Diede SJ, Yao Z, Keyes CC, Tyler AE, Dey J, Hackett CS, Elsaesser K, Kemp CJ, Neiman PE, Weiss WA, Olson JM, Tapscott SJ (2013). Fundamental differences in promoter CpG island DNA hypermethylation between human cancer and genetically engineered mouse models of cancer. Epigenetics. doi: 10.4161/epi.26486

Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ (2013). DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. PLoS Genetics. doi: 10.1371/journal.pgen.1003947

Dey J, Dubuc AM, Pedro KD, Thirstrup D, Mecham B, Northcott PA, Wu X, Shih D, Tapscott SJ, LeBlanc M, Taylor MD, Olson JM (2013). MyoD is a tumor suppressor gene in medulloblastoma. Cancer Research. doi: 10.1158/0008-5472.CAN-13-0730-T

MacQuarrie KL, Yao Z, Fong AP, Tapscott SJ (2013). Genome-wide binding of the basic helix-loop-helix myogenic inhibitor musculin has substantial overlap with MyoD: implications for buffering activity. Skeletal Muscle. doi: 10.1186/2044-5040-3-26

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 (2013). The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2013.08.004

Fong AP, Tapscott SJ (2013). Skeletal muscle programming and re-programming. Current Opinion in Genetics & Development. doi: 10.1016/j.gde.2013.05.002

Sebastian S, Faralli H, Yao Z, Rakopoulos P, Palii C, Cao Y, Singh K, Liu QC, Chu A, Aziz A, Brand M, Tapscott SJ, Dilworth FJ (2013). Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation. Genes & Development. doi: 10.1101/gad.215400.113

Parker MH, Tapscott SJ (2013). Expanding donor muscle-derived cells for transplantation. Current Protocols in Stem Cell Biology. doi: 10.1002/9780470151808.sc02c04s25

Yao Z, Farr GH 3rd, Tapscott SJ, Maves L (2013). Pbx and Prdm1a transcription factors differentially regulate subsets of the fast skeletal muscle program in zebrafish. Biology Open. doi: 10.1242/bio.20133921

Yao Z, Fong AP, Cao Y, Ruzzo WL, Gentleman RC, Tapscott SJ (2013). Comparison of endogenous and overexpressed MyoD shows enhanced binding of physiologically bound sites. Skeletal Muscle. doi: 10.1186/2044-5040-3-8

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 (2013). Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genetics. doi: 10.1371/journal.pgen.1003415

Kerwin WS, Naumova A, Storb R, Tapscott SJ, Wang Z (2013). Mapping contrast agent uptake and retention in MRI studies of myocardial perfusion: case control study of dogs with Duchenne muscular dystrophy. The International Journal of Cardiovascular Imaging. doi: 10.1007/s10554-012-0137-y

Borensztein M, Monnier P, Court F, Louault Y, Ripoche MA, Tiret L, Yao Z, Tapscott SJ, Forné T, Montarras D, Dandolo L (2013). Myod and H19-Igf2 locus interactions are required for diaphragm formation in the mouse. Development. doi: 10.1242/dev.084665

MacQuarrie KL, Yao Z, Fong AP, Diede SJ, Rudzinski ER, Hawkins DS, Tapscott SJ (2013). Comparison of genome-wide binding of MyoD in normal human myogenic cells and rhabdomyosarcomas identifies regional and local suppression of promyogenic transcription factors. Molecular and Cellular Biology. doi: 10.1128/MCB.00916-12
 

2012

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM (2012). Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics. doi: 10.1038/ng.2454

van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ (2012). Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Current Opinion in Neurology. doi: 10.1097/WCO.0b013e328357f22d

Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM (2012). Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. The American Journal of Pathology. doi: 10.1016/j.ajpath.2012.07.007

Parker MH, Loretz C, Tyler AE, Duddy WJ, Hall JK, Olwin BB, Bernstein ID, Storb R, Tapscott SJ (2012). Activation of Notch signaling during ex vivo expansion maintains donor muscle cell engraftment. Stem Cells. doi: 10.1002/stem.1181

Wang Z, Storb R, Halbert CL, Banks GB, Butts TM, Finn EE, Allen JM, Miller AD, Chamberlain JS, Tapscott SJ (2012). Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: a preclinical model for human therapies. Molecular Therapy. doi: 10.1038/mt.2012.111

Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM (2012). Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics. doi: 10.4161/epi.20001

Weber CM, Martindale MQ, Tapscott SJ, Unguez GA (2012). Activation of Pax7-positive cells in a non-contractile tissue contributes to regeneration of myogenic tissues in the electric fish S. macrurus. PLoS One. doi: 10.1371/journal.pone.0036819

MacQuarrie KL, Yao Z, Young JM, Cao Y, Tapscott SJ (2012). miR-206 integrates multiple components of differentiation pathways to control the transition from growth to differentiation in rhabdomyosarcoma cells. Skeletal Muscle. doi: 10.1186/2044-5040-2-7

Fong AP, Yao Z, Zhong JW, Cao Y, Ruzzo WL, Gentleman RC, Tapscott SJ (2012). Genetic and epigenetic determinants of neurogenesis and myogenesis. Developmental Cell. doi: 10.1016/j.devcel.2012.01.015

Mahoney SE, Yao Z, Keyes CC, Tapscott SJ, Diede SJ (2012). Genome-wide DNA methylation studies suggest distinct DNA methylation patterns in pediatric embryonal and alveolar rhabdomyosarcomas. Epigenetics. doi: 10.4161/epi.19463

Parker MH, Loretz C, Tyler AE, Snider L, Storb R, Tapscott SJ (2012). Inhibition of CD26/DPP-IV enhances donor muscle cell engraftment and stimulates sustained donor cell proliferation. Skeletal Muscle. doi: 10.1186/2044-5040-2-4

Balog J, Miller D, Sanchez-Curtailles E, Carbo-Marques J, Block G, Potman M, de Knijff P, Lemmers RJ, Tapscott SJ, van der Maarel SM (2012). Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47. European Journal of Human Genetics. doi: 10.1038/ejhg.2011.150

Guenthoer J, Diede SJ, Tanaka H, Chai X, Hsu L, Tapscott SJ, Porter PL (2012). Assessment of palindromes as platforms for DNA amplification in breast cancer. Genome Research. doi: 10.1101/gr.117226.110

Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, Tapscott SJ (2012). DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Developmental Cell. doi: 10.1016/j.devcel.2011.11.013

Wang Z, Storb R, Tapscott SJ, Riddell S (2012). Analyzing cellular immunity to AAV in a canine model using ELISPOT assay. Methods in Molecular Biology. doi: 10.1007/978-1-61779-325-7_5
 

2011

MacQuarrie KL, Tapscott SJ (2011). Stuck in a balancing act: histone methyltransferase activity of KMT1A traps alveolar rhabdomyosarcomas in an undifferentiated state. Cell Cycle. doi: 10.4161/cc.10.19.17451

Wang Z, Tapscott SJ, Chamberlain JS, Storb R (2011). Immunity and AAV-mediated gene therapy for muscular dystrophies in large animal models and human trials. Frontiers in Microbiology. doi: 10.3389/fmicb.2011.00201

Conerly ML, MacQuarrie KL, Fong AP, Yao Z, Tapscott SJ (2011). Polycomb-mediated repression during terminal differentiation: what don't you want to be when you grow up? Genes & Development. doi: 10.1101/gad.2054311

Geng LN, Tyler AE, Tapscott SJ (2011). Immunodetection of human double homeobox 4. Hybridoma (Larchmt). doi: 10.1089/hyb.2010.0094

van der Maarel SM, Tawil R, Tapscott SJ (2011). Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends in Molecular Medicine. doi: 10.1016/j.molmed.2011.01.001

MacQuarrie KL, Fong AP, Morse RH, Tapscott SJ (2011). Genome-wide transcription factor binding: beyond direct target regulation. Trends in Genetics. doi: 10.1016/j.tig.2011.01.001

Gianakopoulos PJ, Mehta V, Voronova A, Cao Y, Yao Z, Coutu J, Wang X, Waddington MS, Tapscott SJ, Skerjanc IS (2011). MyoD directly up-regulates premyogenic mesoderm factors during induction of skeletal myogenesis in stem cells. Journal of Biological Chemistry. doi: 10.1074/jbc.M110.163709

Palii CG, Perez-Iratxeta C, Yao Z, Cao Y, Dai F, Davison J, Atkins H, Allan D, Dilworth FJ, Gentleman R, Tapscott SJ, Brand M (2011). Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages. The EMBO Journal. doi: 10.1038/emboj.2010.342

Wang Z, Tapscott SJ, Storb R (2011). Local gene delivery and methods to control immune responses in muscles of normal and dystrophic dogs. Methods in Molecular Biology. doi: 10.1007/978-1-61737-982-6_17

2010

Lee KS, Cao Y, Witwicka HE, Tom S, Tapscott SJ, Wang EH (2010). RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing. Journal of Biological Chemistry. doi: 10.1074/jbc.M110.124255

Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG (2010). Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genetics. doi: 10.1371/journal.pgen.1001181

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM (2010). A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. doi: 10.1126/science.1189044

Rajapakse I, Scalzo D, Tapscott SJ, Kosak ST, Groudine M (2010). Networking the nucleus. Molecular Systems Biology. doi: 10.1038/msb.2010.48

Halbert CL, Madtes DK, Vaughan AE, Wang Z, Storb R, Tapscott SJ, Miller AD (2010). Expression of human alpha1-antitrypsin in mice and dogs following AAV6 vector-mediated gene transfer to the lungs. Molecular Therapy. doi: 10.1038/mt.2010.51

Cao Y, Yao Z, Sarkar D, Lawrence M, Sanchez GJ, Parker MH, MacQuarrie KL, Davison J, Morgan MT, Ruzzo WL, Gentleman RC, Tapscott SJ (2010). Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming. Developmental Cell. doi: 10.1016/j.devcel.2010.02.014

Diede SJ, Tanaka H, Bergstrom DA, Yao MC, Tapscott SJ (2010). Genome-wide analysis of palindrome formation. Nature Genetics. doi: 10.1038/ng0410-279

Wang Z, Storb R, Lee D, Kushmerick MJ, Chu B, Berger C, Arnett A, Allen J, Chamberlain JS, Riddell SR, Tapscott SJ (2010). Immune responses to AAV in canine muscle monitored by cellular assays and noninvasive imaging. Molecular Therapy. doi: 10.1038/mt.2009.294

Diede SJ, Guenthoer J, Geng LN, Mahoney SE, Marotta M, Olson JM, Tanaka H, Tapscott SJ (2010). DNA methylation of developmental genes in pediatric medulloblastomas identified by denaturation analysis of methylation differences. Proceedings of the National Academy of Sciences of the United States of America. doi: 10.1073/pnas.0907606106
 

2009

Maves L, Tyler A, Moens CB, Tapscott SJ (2009). Pbx acts with Hand2 in early myocardial differentiation. Developmental Biology. doi: 10.1016/j.ydbio.2009.07.004

Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ (2009). RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Human Molecular Genetics. doi: 10.1093/hmg/ddp180

Yang Z, MacQuarrie KL, Analau E, Tyler AE, Dilworth FJ, Cao Y, Diede SJ, Tapscott SJ (2009). MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. Genes & Development. doi: 10.1101/gad.1765109

Wang Z, Chamberlain JS, Tapscott SJ, Storb R (2009). Gene therapy in large animal models of muscular dystrophy. ILAR Journal. PMID: 19293461
 

2008

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB (2008). A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Human Molecular Genetics. doi: 10.1093/hmg/ddn283

Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE, La Spada AR (2008). CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genetics. doi: 10.1371/journal.pgen.1000257

Kim HJ, Archer E, Escobedo N, Tapscott SJ, Unguez GA (2008). Inhibition of mammalian muscle differentiation by regeneration blastema extract of Sternopygus macrurus. Developmental Dynamics. doi: 10.1002/dvdy.21702

Kimura E, Han JJ, Li S, Fall B, Ra J, Haraguchi M, Tapscott SJ, Chamberlain JS (2008). Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy. Human Molecular Genetics. doi: 10.1093/hmg/ddn151

Parker MH, Kuhr C, Tapscott SJ, Storb R (2008). Hematopoietic cell transplantation provides an immune-tolerant platform for myoblast transplantation in dystrophic dogs. Molecular Therapy. doi: 10.1038/mt.2008.102
 

2007

Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN (2007). An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Human Molecular Genetics. doi: 10.1093/hmg/ddm293

Rampalli S, Li L, Mak E, Ge K, Brand M, Tapscott SJ, Dilworth FJ (2007). p38 MAPK signaling regulates recruitment of Ash2L-containing methyltransferase complexes to specific genes during differentiation. Nature Structural & Molecular Biology. doi: 10.1038/nsmb1316

O'Rourke JR, Georges SA, Seay HR, Tapscott SJ, McManus MT, Goldhamer DJ, Swanson MS, Harfe BD (2007). Essential role for Dicer during skeletal muscle development. Developmental Biology. doi: 10.1016/j.ydbio.2007.08.032

Maves L, Waskiewicz AJ, Paul B, Cao Y, Tyler A, Moens CB, Tapscott SJ (2007). Pbx homeodomain proteins direct Myod activity to promote fast-muscle differentiation. Development. doi: 10.1242/dev.003905

Olguin HC, Yang Z, Tapscott SJ, Olwin BB (2007). Reciprocal inhibition between Pax7 and muscle regulatory factors modulates myogenic cell fate determination. Journal of Cell Biology. doi: 10.1083/jcb.200608122

Wang Z, Kuhr CS, Allen JM, Blankinship M, Gregorevic P, Chamberlain JS, Tapscott SJ, Storb R (2007). Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression. Molecular Therapy. doi: 10.1038/sj.mt.6300161

Tanaka H, Cao Y, Bergstrom DA, Kooperberg C, Tapscott SJ, Yao MC (2007). Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer. Molecular and Cellular Biology. doi: 10.1128/MCB.01313-06

Cho DH, Tapscott SJ (2007). Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochimica et Biophysica Acta. doi: 10.1016/j.bbadis.2006.05.013

Wang Z, Allen JM, Riddell SR, Gregorevic P, Storb R, Tapscott SJ, Chamberlain JS, Kuhr CS (2007). Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy. Human Gene Therapy. doi: 10.1089/hum.2006.093
 

2006

Rosenberg MI, Georges SA, Asawachaicharn A, Analau E, Tapscott SJ (2006). MyoD inhibits Fstl1 and Utrn expression by inducing transcription of miR-206. Journal of Cell Biology. doi: 10.1083/jcb.200603039

Caretti G, Schiltz RL, Dilworth FJ, Di Padova M, Zhao P, Ogryzko V, Fuller-Pace FV, Hoffman EP, Tapscott SJ, Sartorelli V (2006). The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation. Developmental Cell. doi: 10.1016/j.devcel.2006.08.003

Lin CH, Tapscott SJ, Olson JM (2006). Congenital hypothyroidism (cretinism) in neuroD2-deficient mice. Molecular and Cellular Biology. doi: 10.1128.MCB.02158-05

Ince-Dunn G, Hall BJ, Hu SC, Ripley B, Huganir RL, Olson JM, Tapscott SJ, Ghosh A (2006). Regulation of thalamocortical patterning and synaptic maturation by NeuroD2. Neuron. doi: 10.1016/j.neuron.2006.01.031

Cao Y, Kumar RM, Penn BH, Berkes CA, Kooperberg C, Boyer LA, Young RA, Tapscott SJ (2006). Global and gene-specific analyses show distinct roles for Myod and Myog at a common set of promoters. The EMBO Journal. doi: 10.1038/sj.emboj.7600958

Tanaka H, Bergstrom DA, Yao MC, Tapscott SJ (2006). Large DNA palindromes as a common form of structural chromosome aberrations in human cancers. Human Cell. doi: 10.1111/j.1749-0774.2005.00003.x
 

2005

Cho DH, Thienes CP, Mahoney SE, Analau E, Filippova GN, Tapscott SJ (2005). Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Molecular Cell. doi: 10.1016/j.molcel.2005.09.002

Lin CH, Hansen S, Wang Z, Storm DR, Tapscott SJ, Olson JM (2005). The dosage of the neuroD2 transcription factor regulates amygdala development and emotional learning. Proceedings of the National Academy of Sciences of the United States of America. doi: 10.1073/pnas.0506785102

Berkes CA, Tapscott SJ (2005). MyoD and the transcriptional control of myogenesis. Seminars in Cell & Developmental Biology. doi: 10.1016/j.semcdb.2005.07.006

Strand AD, Aragaki AK, Shaw D, Bird T, Holton J, Turner C, Tapscott SJ, Tabrizi SJ, Schapira AH, Kooperberg C, Olson JM (2005). Gene expression in Huntington's disease skeletal muscle: a potential biomarker. Human Molecular Genetics. doi: 10.1093/hmg/ddi192

Snider L, Tapscott SJ (2005). XIC is required for Siamois activity and dorsoanterior development. Molecular and Cellular Biology. doi: 10.1128/MCB.25.12.5061-5072.2005

Tapscott SJ (2005). The circuitry of a master switch: Myod and the regulation of skeletal muscle gene transcription. Development. doi: 10.1242/dev.01874

de la Serna IL, Ohkawa Y, Berkes CA, Bergstrom DA, Dacwag CS, Tapscott SJ, Imbalzano AN (2005). MyoD targets chromatin remodeling complexes to the myogenin locus prior to forming a stable DNA-bound complex. Molecular and Cellular Biology. doi: 10.1128/MCB.25.10.3997-4009.2005

Tanaka H, Bergstrom DA, Yao MC, Tapscott SJ (2005). Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplification. Nature Genetics. doi: 10.1038/ng1515
 

2004

Dell'Agnola C, Wang Z, Storb R, Tapscott SJ, Kuhr CS, Hauschka SD, Lee RS, Sale GE, Zellmer E, Gisburne S, Bogan J, Kornegay JN, Cooper BJ, Gooley TA, Little MT (2004). Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood. doi: 10.1182/blood-2004-06-2247

Penn BH, Bergstrom DA, Dilworth FJ, Bengal E, Tapscott SJ (2004). A MyoD-generated feed-forward circuit temporally patterns gene expression during skeletal muscle differentiation. Genes & Development. doi: 10.1101/gad.1234304

Dilworth FJ, Seaver KJ, Fishburn AL, Htet SL, Tapscott SJ (2004). In vitro transcription system delineates the distinct roles of the coactivators pCAF and p300 during MyoD/E47-dependent transactivation. Proceedings of the National Academy of Sciences of the United States of America. doi: 10.1073/pnas.0404192101

Berkes CA, Bergstrom DA, Penn BH, Seaver KJ, Knoepfler PS, Tapscott SJ (2004). Pbx marks genes for activation by MyoD indicating a role for a homeodomain protein in establishing myogenic potential. Molecular Cell. PMID: 15149596

Klezovitch O, Fernandez TE, Tapscott SJ, Vasioukhin V (2004). Loss of cell polarity causes severe brain dysplasia in Lgl1 knockout mice. Genes & Development. doi: 10.1101/gad.1178004

Lin CH, Stoeck J, Ravanpay AC, Guillemot F, Tapscott SJ, Olson JM (2004). Regulation of neuroD2 expression in mouse brain. Developmental Biology. PMID: 14697366
 

2003

Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM (2003). Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Human Molecular Genetics. doi: 10.1093/hmg/ddg327

Hallahan AR, Pritchard JI, Chandraratna RA, Ellenbogen RG, Geyer JR, Overland RP, Strand AD, Tapscott SJ, Olson JM (2003). BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect. Nature Medicine. doi: 10.1038/nm904

Snider L, Tapscott SJ (2003). Emerging parallels in the generation and regeneration of skeletal muscle. Cell. PMID: 12837235

Maley CC, Tapscott SJ (2003). Selective instability: maternal effort and the evolution of gene activation and deactivation rates. Artificial Life. doi: 10.1162/106454603322392488
 

2002

Luthi-Carter R, Hanson SA, Strand AD, Bergstrom DA, Chun W, Peters NL, Woods AM, Chan EY, Kooperberg C, Krainc D, Young AB, Tapscott SJ, Olson JM (2002). Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain. Human Molecular Genetics. PMID: 12165554

Tanaka H, Tapscott SJ, Trask BJ, Yao MC (2002). Short inverted repeats initiate gene amplification through the formation of a large DNA palindrome in mammalian cells. Proceedings of the National Academy of Sciences of the United States of America. doi: 10.1073/pnas.132275999

Sato S, Nakamura M, Cho DH, Tapscott SJ, Ozaki H, Kawakami K (2002). Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. Human Molecular Genetics. PMID: 11978764

Bergstrom DA, Penn BH, Strand A, Perry RL, Rudnicki MA, Tapscott SJ (2002). Promoter-specific regulation of MyoD binding and signal transduction cooperate to pattern gene expression. Molecular Cell. PMID: 11931766

Timchenko LT, Tapscott SJ, Cooper TA, Monckton DG (2002). Myotonic dystrophy: discussion of molecular basis. Advances in Experimental Medicine and Biology. PMID: 12611434
 

2001

Tapscott SJ, Thornton CA (2001). Biomedicine. Reconstructing myotonic dystrophy. Science. doi: 10.1126/science.1063517

Penn BH, Berkes CA, Bergstrom DA, Tapscott SJ (2001). How to MEK muscle. Molecular Cell. PMID: 11545725

Filippova GN, Thienes CP, Penn BH, Cho DH, Hu YJ, Moore JM, Klesert TR, Lobanenkov VV, Tapscott SJ (2001). CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nature Genetics. doi: 10.1038/ng570

Thomas JG, Olson JM, Tapscott SJ, Zhao LP (2001). An efficient and robust statistical modeling approach to discover differentially expressed genes using genomic expression profiles. Genome Research. doi: 10.1101/gr.165101

Olson JM, Asakura A, Snider L, Hawkes R, Strand A, Stoeck J, Hallahan A, Pritchard J, Tapscott SJ (2001). NeuroD2 is necessary for development and survival of central nervous system neurons. Developmental Biology. doi: 10.1006/dbio.2001.0245

Bergstrom DA, Tapscott SJ (2001). Molecular distinction between specification and differentiation in the myogenic basic helix-loop-helix transcription factor family. Molecular and Cellular Biology. doi: 10.1128/MCB.21.7.2404-2412.2001

Cook DL, Farley JF, Tapscott SJ (2001). A basis for a visual language for describing, archiving and analyzing functional models of complex biological systems. Genome Biology. PMID: 11305940

Snider L, Thirlwell H, Miller JR, Moon RT, Groudine M, Tapscott SJ (2001). Inhibition of Tcf3 binding by I-mfa domain proteins. Molecular and Cellular Biology. doi: 10.1128/MCB.21.5.1866-1873.2001
 

2000

Tapscott SJ (2000). Deconstructing myotonic dystrophy. Science. PMID: 11001736

Luthi-Carter R, Strand A, Peters NL, Solano SM, Hollingsworth ZR, Menon AS, Frey AS, Spektor BS, Penney EB, Schilling G, Ross CA, Borchelt DR, Tapscott SJ, Young AB, Cha JH, Olson JM (2000). Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Human Molecular Genetics. PMID: 10814708

Murray RC, Tapscott SJ, Petersen JW, Calof AL, McCormick MB (2000). A fragment of the Neurogenin1 gene confers regulated expression of a reporter gene in vitro and in vivo. Developmental Dynamics. doi: 10.1002/(SICI)1097-0177(200005)218:1<189::AID-DVDY16>3.0.CO;2-4

Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L, Yuen EC, Soriano P, Tapscott SJ (2000). Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nature Genetics. doi: 10.1038/75490

Farah MH, Olson JM, Sucic HB, Hume RI, Tapscott SJ, Turner DL (2000). Generation of neurons by transient expression of neural bHLH proteins in mammalian cells. Development. PMID: 10648228

Knoepfler PS, Bergstrom DA, Uetsuki T, Dac-Korytko I, Sun YH, Wright WE, Tapscott SJ, Kamps MP (1999). A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with pbx-Meis1/Prep1. Nucleic Acids Research. PMID: 10471746

Kablar B, Krastel K, Ying C, Tapscott SJ, Goldhamer DJ, Rudnicki MA (1999). Myogenic determination occurs independently in somites and limb buds. Developmental Biology. doi: 10.1006/dbio.1998.9126

Cook DL, Gerber AN, Tapscott SJ (1998). Modeling stochastic gene expression: implications for haploinsufficiency. Proceedings of the National Academy of Sciences of the United States of America. PMID: 9861023

Asakura A, Tapscott SJ (1998). Apoptosis of epaxial myotome in Danforth's short-tail (Sd) mice in somites that form following notochord degeneration. Developmental Biology. doi: 10.1006/dbio.1998.9050

Kraut N, Snider L, Chen CM, Tapscott SJ, Groudine M (1998). Requirement of the mouse I-mfa gene for placental development and skeletal patterning. The EMBO Journal. doi: 10.1093/emboj/17.21.6276

Friend SH, Tapscott SJ (1998). Sibling rivalry, arrested development and chromosomal mayhem. Nature Genetics. doi: 10.1038/ng0598-9

Gredinger E, Gerber AN, Tamir Y, Tapscott SJ, Bengal E (1998). Mitogen-activated protein kinase pathway is involved in the differentiation of muscle cells. Journal of Biological Chemistry. PMID: 9553102

Tapscott SJ, Klesert TR, Widrow RJ, Stöger R, Laird CD (1998). Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Current Opinion in Genetics & Development. PMID: 9610417

Kablar B, Krastel K, Ying C, Asakura A, Tapscott SJ, Rudnicki MA (1997). MyoD and Myf-5 differentially regulate the development of limb versus trunk skeletal muscle. Development. PMID: 9428409

Otten AD, Firpo EJ, Gerber AN, Brody LL, Roberts JM, Tapscott SJ (1997). Inactivation of MyoD-mediated expression of p21 in tumor cell lines. Cell Growth & Differentiation. PMID: 9372238

Rostomily RC, Bermingham-McDonogh O, Berger MS, Tapscott SJ, Reh TA, Olson JM (1997). Expression of neurogenic basic helix-loop-helix genes in primitive neuroectodermal tumors. Cancer Research. PMID: 9270024

Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997). Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genetics. doi: 10.1038/ng0897-402

Tamimi RM, Steingrimsson E, Montgomery-Dyer K, Copeland NG, Jenkins NA, Tapscott SJ (1997). NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively. Genomics. doi: 10.1006/geno.1996.4578

Gerber AN, Klesert TR, Bergstrom DA, Tapscott SJ (1997). Two domains of MyoD mediate transcriptional activation of genes in repressive chromatin: a mechanism for lineage determination in myogenesis. Genes & Development. PMID: 9042858

Tapscott SJ, Eskridge J, Kliot M (1996). Surgical management of superficial siderosis following cervical nerve root avulsion. Annals of Neurology. doi: 10.1002/ana.410400620

McCormick MB, Tamimi RM, Snider L, Asakura A, Bergstrom D, Tapscott SJ (1996). NeuroD2 and NeuroD3: distinct expression patterns and transcriptional activation potentials within the NeuroD gene family. PMID: 8816493

Fiddler TA, Smith L, Tapscott SJ, Thayer MJ (1996). Amplification of MDM2 inhibits MyoD-mediated myogenesis. Molecular and Cellular Biology. PMID: 8756663

Gerber AN, Tapscott SJ (1996). Tumor cell complementation groups based on myogenic potential: evidence for inactivation of loci required for basic helix-loop-helix protein activity. Molecular and Cellular Biology. PMID: 8668208

Tamimi R, Steingrimsson E, Copeland NG, Dyer-Montgomery K, Lee JE, Hernandez R, Jenkins NA, Tapscott SJ (1996). The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2. Genomics. doi: 10.1006/geno.1996.0306

Asakura A, Lyons GE, Tapscott SJ (1995). The regulation of MyoD gene expression: conserved elements mediate expression in embryonic axial muscle. Developmental Biology. doi: 10.1006/dbio.1995.1290

Otten AD, Tapscott SJ (1995). Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proceedings of the National Academy of Sciences of the United States of America. PMID: 7777532

Tapscott SJ, Miller AD, Olson JM, Berger MS, Groudine M, Spence AM (1994). Gene therapy of rat 9L gliosarcoma tumors by transduction with selectable genes does not require drug selection. Proceedings of the National Academy of Sciences of the United States of America. PMID: 8058777

Sancho S, Mongini T, Tanji K, Tapscott SJ, Walker WF, Weintraub H, Miller AD, Miranda AF (1993). Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy. New England Journal of Medicine. doi: 10.1056/NEJM199309233291303

Hughes SM, Taylor JM, Tapscott SJ, Gurley CM, Carter WJ, Peterson CA (1993). Selective accumulation of MyoD and myogenin mRNAs in fast and slow adult skeletal muscle is controlled by innervation and hormones. Development. PMID: 8269844

Tapscott SJ, Thayer MJ, Weintraub H (1993). Deficiency in rhabdomyosarcomas of a factor required for MyoD activity and myogenesis. Science. PMID: 8383879

Dias P, Parham DM, Shapiro DN, Tapscott SJ, Houghton PJ (1992). Monoclonal antibodies to the myogenic regulatory protein MyoD1: epitope mapping and diagnostic utility. Cancer Research. 
PMID: 1384962

Tapscott SJ, Lassar AB, Weintraub H (1992). A novel myoblast enhancer element mediates MyoD transcription. Molecular and Cellular Biology. PMID: 1328870

Johnston LA, Tapscott SJ, Eisen H (1992). Sodium butyrate inhibits myogenesis by interfering with the transcriptional activation function of MyoD and myogenin. Molecular and Cellular Biology. PMID: 1328872

Kim SJ, Kim KY, Tapscott SJ, Winokur TS, Park K, Fujiki H, Weintraub H, Roberts AB (1992). Inhibition of protein phosphatases blocks myogenesis by first altering MyoD binding activity. Journal of Biological Chemistry. PMID: 1321827

Bengal E, Ransone L, Scharfmann R, Dwarki VJ, Tapscott SJ, Weintraub H, Verma IM (1992). Functional antagonism between c-Jun and MyoD proteins: a direct physical association. Cell. PMID: 1310896

Weintraub H, Dwarki VJ, Verma I, Davis R, Hollenberg S, Snider L, Lassar A, Tapscott SJ (1991). Muscle-specific transcriptional activation by MyoD. Genes & Development. PMID: 1651276

Weintraub H, Hauschka S, Tapscott SJ (1991). The MCK enhancer contains a p53 responsive element. Proceedings of the National Academy of Sciences of the United States of America. PMID: 1647009

Tapscott SJ, Weintraub H (1991). MyoD and the regulation of myogenesis by helix-loop-helix proteins. Journal of Clinical Investigation. doi: 10.1172/JCI115109

Jones PA, Wolkowicz MJ, Rideout WM 3rd, Gonzales FA, Marziasz CM, Coetzee GA, Tapscott SJ (1990). De novo methylation of the MyoD1 CpG island during the establishment of immortal cell lines. Proceedings of the National Academy of Sciences of the United States of America. PMID: 2385586

Tapscott SJ, Davis RL, Lassar AB, Weintraub H (1990). MyoD: a regulatory gene of skeletal myogenesis. Advances in Experimental Medicine and Biology. PMID: 2248151

Tapscott SJ, Lassar AB, Davis RL, Weintraub H (1989). 5-bromo-2'-deoxyuridine blocks myogenesis by extinguishing expression of MyoD1. Science. PMID: 2547249

Thayer MJ, Tapscott SJ, Davis RL, Wright WE, Lassar AB, Weintraub H (1989). Positive autoregulation of the myogenic determination gene MyoD1. Cell. PMID: 2546677

Weintraub H, Tapscott SJ, Davis RL, Thayer MJ, Adam MA, Lassar AB, Miller AD (1989). Activation of muscle-specific genes in pigment, nerve, fat, liver, and fibroblast cell lines by forced expression of MyoD. Proceedings of the National Academy of Sciences of the United States of America. PMID: 2748593

Tapscott SJ, Davis RL, Thayer MJ, Cheng PF, Weintraub H, Lassar AB (1988). MyoD1: a nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts. Science. PMID: 3175662

Bennett GS, Tapscott SJ, DiLullo C, Holtzer H (1984). Differential binding of antibodies against the neurofilament triplet proteins in different avian neurons. Brain Research. PMID: 6430468

Dlugosz AA, Tapscott SJ, Holtzer H (1983). Effects of phorbol 12-myristate 13-acetate on the differentiation program of embryonic chick skeletal myoblasts. Cancer Research. PMID: 6342759

Holtzer H, Bennett GS, Tapscott SJ, Croop JM, Toyama Y (1982). Intermediate-size filaments: changes in synthesis and distribution in cells of the myogenic and neurogenic lineages. Cold Spring Harbor Symposia on Quantitative Biology. PMID: 6955084

Tapscott SJ, Bennett GS, Holtzer H (1981). Neuronal precursor cells in the chick neural tube express neurofilament proteins. Nature. PMID: 6791030

Tapscott SJ, Bennett GS, Toyama Y, Kleinbart F, Holtzer H (1981). Intermediate filament proteins in the developing chick spinal cord. Developmental Biology. PMID: 7197239

Antin PB, Forry-Schaudies S, Friedman TM, Tapscott SJ, Holtzer H (1981). Taxol induces postmitotic myoblasts to assemble interdigitating microtubule-myosin arrays that exclude actin filaments. Journal of Cell Biology. PMID: 6116716

Bennett GS, Tapscott SJ, Kleinbart FA, Antin PB, Holtzer H (1981). Different proteins associated with 10-nanometer filaments in cultured chick neurons and nonneuronal cells. Science. PMID: 6163217