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

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

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

by Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel
Published 2017-06-01

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

by Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel
Published 2013-04-01

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

by Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori
Published 2009-07-01