Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

by Darina Šikrová, Vlad A. Cadar, Yavuz Ariyurek, Jeroen F.J. Laros, Judit Balog, Silvère M. van der Maarel
Published 2021-09-01

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

by Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley
Published 2015-01-01

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

by Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini
Published 2020-01-01

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

by Amy E Campbell, Sean C Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
Published 2018-03-01

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

by Darina Šikrová, Alessandra M. Testa, Iris Willemsen, Anita van den Heuvel, Stephen J. Tapscott, Lucia Daxinger, Judit Balog, Silvère M. van der Maarel
Published 2023-06-01

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

by Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini, Alfred S Lewin
Published 2020-01-01

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

by Linde F. Bouwman, Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silvère M. van der Maarel, Jessica C. de Greef
Published 2020-10-01

Correction: Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy.

by Seyed Yahya Anvar, Allan Tucker, Veronica Vinciotti, Andrea Venema, Gert-Jan B. van Ommen, Silvere M. van der Maarel, Vered Raz, Peter A. C. ‘t Hoen
Published 2011-11-01

Interspecies translation of disease networks increases robustness and predictive accuracy.

by Seyed Yahya Anvar, Allan Tucker, Veronica Vinciotti, Andrea Venema, Gert-Jan B van Ommen, Silvere M van der Maarel, Vered Raz, Peter A C 't Hoen
Published 2011-11-01

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

by Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. Tapscott
Published 2019-11-01

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

by Janet M Young, Jennifer L Whiddon, Zizhen Yao, Bhavatharini Kasinathan, Lauren Snider, Linda N Geng, Judit Balog, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
Published 2013-11-01

Meeting report: the 2020 FSHD International Research Congress

by Michael Kyba, Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup, Kathryn R. Wagner, Baziel van Engelen, Yi-Wen Chen
Published 2020-12-01

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

by Sean C Shadle, Jun Wen Zhong, Amy E Campbell, Melissa L Conerly, Sujatha Jagannathan, Chao-Jen Wong, Timothy D Morello, Silvère M van der Maarel, Stephen J Tapscott
Published 2017-03-01

SATB1, genomic instability and Gleason grading constitute a novel risk score for prostate cancer

by Christoph Dumke, Timo Gemoll, Martina Oberländer, Sandra Freitag-Wolf, Christoph Thorns, Axel Glaessgen, Rinse Klooster, Silvère M. van der Maarel, Jerker Widengren, Christian Doehn, Gert Auer, Jens K. Habermann
Published 2021-12-01

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.

by Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel
Published 2010-01-01

Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy

by Linde F. Bouwman, Bianca den Hamer, Anita van den Heuvel, Marnix Franken, Michaela Jackson, Chrissa A. Dwyer, Stephen J. Tapscott, Frank Rigo, Silvère M. van der Maarel, Jessica C. de Greef
Published 2021-12-01

DUX4 expression in cancer induces a metastable early embryonic totipotent program

by Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott
Published 2023-09-01

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

by Gregory J Block, Lisa M Petek, Divya Narayanan, Amanda M Amell, James M Moore, Natalia A Rabaia, Ashlee Tyler, Silvere M van der Maarel, Rabi Tawil, Galina N Filippova, Daniel G Miller
Published 2012-01-01

In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease.

by Rob J A Nabuurs, Kim S Rutgers, Mick M Welling, Athanasios Metaxas, Maaike E de Backer, Maarten Rotman, Brian J Bacskai, Mark A van Buchem, Silvère M van der Maarel, Louise van der Weerd
Published 2012-01-01

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

by Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, Román González-Prieto, Jer-Gung Chang, Alfred C. O. Vertegaal, Judit Balog, Silvère M. van der Maarel
Published 2021-12-01