Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis
Young, Janet M, Whiddon, Jennifer L, Yao, Zizhen, Kasinathan, Bhavatharini, Snider, Lauren, Geng, Linda N, Balog, Judit, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J
Published in PLoS genetics (01.11.2013)
Published in PLoS genetics (01.11.2013)
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A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression
Goossens, Remko, Tihaya, Mara S., van den Heuvel, Anita, Tabot-Ndip, Klorane, Willemsen, Iris M., Tapscott, Stephen J., González-Prieto, Román, Chang, Jer-Gung, Vertegaal, Alfred C. O., Balog, Judit, van der Maarel, Silvère M.
Published in Scientific reports (08.12.2021)
Published in Scientific reports (08.12.2021)
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NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain
van Weert, Lisa T.C.M., Buurstede, Jacobus C., Mahfouz, Ahmed, Braakhuis, Pamela S.M., Polman, J. Annelies E., Sips, Hetty C.M., Roozendaal, Benno, Balog, Judit, de Kloet, E. Ronald, Datson, Nicole A., Meijer, Onno C.
Published in Endocrinology (Philadelphia) (01.05.2017)
Published in Endocrinology (Philadelphia) (01.05.2017)
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A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells
Polman, J Annelies E, Welten, Jennifer E, Bosch, Danny S, de Jonge, Robert T, Balog, Judit, van der Maarel, Silvère M, de Kloet, E Ronald, Datson, Nicole A
Published in BMC neuroscience (03.10.2012)
Published in BMC neuroscience (03.10.2012)
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Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy
Šikrová, Darina, Cadar, Vlad A., Ariyurek, Yavuz, Laros, Jeroen F.J., Balog, Judit, van der Maarel, Silvère M.
Published in Molecular therapy. Nucleic acids (03.09.2021)
Published in Molecular therapy. Nucleic acids (03.09.2021)
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
Krom, Yvonne D, Thijssen, Peter E, Young, Janet M, den Hamer, Bianca, Balog, Judit, Yao, Zizhen, Maves, Lisa, Snider, Lauren, Knopp, Paul, Zammit, Peter S, Rijkers, Tonnie, van Engelen, Baziel G M, Padberg, George W, Frants, Rune R, Tawil, Rabi, Tapscott, Stephen J, van der Maarel, Silvère M
Published in PLoS genetics (01.04.2013)
Published in PLoS genetics (01.04.2013)
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Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development
van den Heuvel, Anita, Mahfouz, Ahmed, Kloet, Susan L, Balog, Judit, van Engelen, Baziel G M, Tawil, Rabi, Tapscott, Stephen J, van der Maarel, Silvère M
Published in Human molecular genetics (01.04.2019)
Published in Human molecular genetics (01.04.2019)
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SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action
Šikrová, Darina, Testa, Alessandra M., Willemsen, Iris, van den Heuvel, Anita, Tapscott, Stephen J., Daxinger, Lucia, Balog, Judit, van der Maarel, Silvère M.
Published in Communications biology (28.06.2023)
Published in Communications biology (28.06.2023)
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Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
Balog, Judit, Thijssen, Peter E., de Greef, Jessica C., Shah, Bharati, van Engelen, Baziel G.M., Yokomori, Kyoko, Tapscott, Stephen J., Tawil, Rabi, van der Maarel, Silvère M.
Published in Epigenetics (01.06.2012)
Published in Epigenetics (01.06.2012)
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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason, Amanda G, Slieker, Roderick C, Balog, Judit, Lemmers, Richard J L F, Wong, Chao-Jen, Yao, Zizhen, Lim, Jong-Won, Filippova, Galina N, Ne, Enrico, Tawil, Rabi, Heijmans, Bas T, Tapscott, Stephen J, van der Maarel, Silvère M
Published in Skeletal muscle (06.06.2017)
Published in Skeletal muscle (06.06.2017)
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MP2C, a plant protein phosphatase 2C, functions as a negative regulator of mitogen-activated protein kinase pathways in yeast and plants
Meskiene, I. (Vienna Biocenter, Vienna, Austria.), Bogre, L, Glaser, W, Balog, J, Brandstotter, M, Zwerger, K, Ammerer, G, Hirt, H
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
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Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
Zeng, Weihua, de Greef, Jessica C, Chen, Yen-Yun, Chien, Richard, Kong, Xiangduo, Gregson, Heather C, Winokur, Sara T, Pyle, April, Robertson, Keith D, Schmiesing, John A, Kimonis, Virginia E, Balog, Judit, Frants, Rune R, Ball, Jr, Alexander R, Lock, Leslie F, Donovan, Peter J, van der Maarel, Silvère M, Yokomori, Kyoko
Published in PLoS genetics (01.07.2009)
Published in PLoS genetics (01.07.2009)
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Premature termination codons in the DMD gene cause reduced local mRNA synthesis
García-Rodríguez, Raquel, Hiller, Monika, Jiménez-Gracia, Laura, van der Pal, Zarah, Balog, Judit, Adamzek, Kevin, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in Proceedings of the National Academy of Sciences - PNAS (14.07.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (14.07.2020)
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Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
Hamanaka, Kohei, Šikrová, Darina, Mitsuhashi, Satomi, Masuda, Hiroki, Sekiguchi, Yukari, Sugiyama, Atsuhiko, Shibuya, Kazumoto, Lemmers, Richard J L F, Goossens, Remko, Ogawa, Megumu, Nagao, Koji, Obuse, Chikashi, Noguchi, Satoru, Hayashi, Yukiko K, Kuwabara, Satoshi, Balog, Judit, Nishino, Ichizo, van der Maarel, Silvère M
Published in Neurology (09.06.2020)
Published in Neurology (09.06.2020)
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snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis
Zheng, Dongxu, Wondergem, Annelot, Kloet, Susan, Willemsen, Iris, Balog, Judit, Tapscott, Stephen J, Mahfouz, Ahmed, van den Heuvel, Anita, van der Maarel, Silvère M
Published in Human molecular genetics (20.01.2024)
Published in Human molecular genetics (20.01.2024)
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Facioscapulohumeral muscular dystrophy: the road to targeted therapies
Tihaya, Mara S., Mul, Karlien, Balog, Judit, de Greef, Jessica C., Tapscott, Stephen J., Tawil, Rabi, Statland, Jeffrey M., van der Maarel, Silvère M.
Published in Nature reviews. Neurology (01.02.2023)
Published in Nature reviews. Neurology (01.02.2023)
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