Center-Authored Papers

Filters: Author is van der Maarel, Silvère M  [Clear All Filters]
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Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
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Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong C-J, Yao Z, Lim J-W, Filippova GN, Ne E, Tawil R et al..  2017.  SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.. Skeletal muscle. 7:12. Abstract
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Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. Abstract
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Campbell AE, Shadle SC, Jagannathan S, Lim J-W, 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. 7 Abstract
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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 et al..  2016.  Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.. American journal of human genetics. 98(5):1020-9. Abstract
Jagannathan S, Shadle S, 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. Abstract
Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJLF, van der Maarel SM, Tawil R.  2015.  Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.. Neurology. Abstract
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Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS et al..  2013.  Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415. Abstract
Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, De Jong A, Lemmers RJLF, Tawil R et al..  2015.  Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.. Epigenetics. Abstract
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. 2(3):291-299. Abstract
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Lemmers RJLF, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CAL, Heard P, Bakker B, Tapscott S, Cody JD et al..  2015.  Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.. Human mutation. Abstract
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Daxinger L, Tapscott SJ, van der Maarel SM.  2015.  Genetic and epigenetic contributors to FSHD.. Current opinion in genetics & development. 33:56-61. Abstract
Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ et al..  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. Abstract
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Sacconi S, Lemmers RJLF, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L et al..  2013.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.. American journal of human genetics. 93(4):744-51. Abstract
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. 4 Abstract
van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.  2012.  Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.. Current opinion in neurology. 25(5):614-20. Abstract
van der Maarel SM, Tawil R, Tapscott SJ.  2011.  Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.. Trends in molecular medicine. 17(5):252-8. Abstract
Tawil R, van der Maarel SM, Tapscott SJ.  2014.  Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.. Skeletal muscle. 4:12. Abstract
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
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Balog J, Miller D, Sanchez-Curtailles E, Carbo-Marques J, Block G, Potman M, de Knijff P, Lemmers RJLF, 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 : EJHG. 20(2):185-191. Abstract
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Yao Z, Snider L, Balog J, Lemmers RJLF, 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. Abstract
Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong C-J, 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. 13(3):e1006658. Abstract
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. 4:19. Abstract
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. 9(11):e1003947. Abstract
van den Boogaard ML, Jfl Lemmers R, Camaño P, van der Vliet PJ, Voermans N, van Engelen BGM, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R et al..  2015.  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 : EJHG. Abstract