检索结果 - Judit Balog
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Correlation analysis of clinical parameters with epigenetic modifications in the <i>DUX4</i> promoter in FSHD 由 Judit Balog, Peter Thijssen, Jessica C. de Greef, Bharati Shah, Baziel G.M. van Engelen, Kyoko Yokomori, Stephen J. Tapscott, Rabi Tawil, Silvère M. van der Maarel
出版 2012Artigo -
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Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs 由 Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball, Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, A Mortazavi, Silvère M. van der Maarel, Kyoko Yokomori
出版 2014Artigo -
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NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain 由 Lisa T. C. M. van Weert, Jacobus C. Buurstede, Ahmed Mahfouz, Pamela S.M. Braakhuis, Japke A.E. Polman, Hetty C. M. Sips, Benno Roozendaal, Judit Balog, E. R. de Kloet, Nicole A. Datson, Onno C. Meijer
出版 2017Artigo -
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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 由 Judit Balog, Peter Thijssen, Sean Shadle, Kirsten R. Straasheijm, Patrick J. van der Vliet, Yvonne D. Krom, Marlinde L. van den Boogaard, Annika de Jong, Richard J.L.F. Lemmers, Rabi Tawil, Stephen J. Tapscott, Silvère M. van der Maarel
出版 2015Artigo -
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Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy 由 Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J.L.F. Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, S. Noguchi, Yukiko Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M. van der Maarel
出版 2020Artigo -
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Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD 由 Yvonne D. Krom, Peter 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
出版 2013Artigo -
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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 由 Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati, Alberto Casarin, Elena Pegoraro, Rabi Tawil, Egbert Bakker, Stephen J. Tapscott, Claude Desnuelle, Silvère M. van der Maarel
出版 2013Artigo -
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Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD) 由 Weihua Zeng, Jessica C. de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C. Gregson, Sara T. Winokur, April D. Pyle, Keith D. Robertson, John A. Schmiesing, Virginia Kimonis, Judit Balog, Rune R. Frants, Alexander R. Ball, Leslie F. Lock, Peter J. Donovan, Silvère M. van der Maarel, Kyoko Yokomori
出版 2009Artigo -
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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 由 Richard J.L.F. Lemmers, Jelle J. Goeman, Patrick J. van der Vliet, Merlijn P. van Nieuwenhuizen, Judit Balog, Marianne Vos-Versteeg, Pilar Camaño, María Antonia Ramos Arroyo, Ivonne Jericó, Mark T. Rogers, Daniel G. Miller, Meena Upadhyaya, Jan J.G.M. Verschuuren, Adolfo López de Munaín Arregui, Baziel G.M. van Engelen, George W. Padberg, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Egbert Bakker, Silvère M. van der Maarel
出版 2014Artigo -
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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 由 Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique Smeets, Yves Sznajer, Cisca Wijmenga, M C van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J. D. van Tol, Peter J. van den Elsen, Corry M.R. Weemaes, Silvère M. van der Maarel
出版 2011Artigo -
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy 由 Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J. van der Vliet, Kirsten R. Straasheijm, Rob F. P. van den Akker, Marjolein Kriek, Marlies E.Y. Laurense-Bik, Vered Raz, Monique M. van Ostaijen-ten Dam, Kerstin Hansson, E.L. van der Kooi, Sari Kiuru‐Enari, B. Udd, Maarten J. D. van Tol, Ichizo Nishino, Rabi Tawil, Stephen J. Tapscott, Baziel G.M. van Engelen, Silvère M. van der Maarel
出版 2016Artigo -
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 由 Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel
出版 2012Artigo
相关主题
Biology
Genetics
Gene
Facioscapulohumeral muscular dystrophy
Epigenetics
Gene expression
Muscular dystrophy
Chromatin
Cell biology
Medicine
DNA methylation
Internal medicine
Heterochromatin
Subtelomere
Transcription factor
Binding site
Bioinformatics
Chromatin immunoprecipitation
Chromosome
Computational biology
EZH2
Endocrinology
Glucocorticoid receptor
Heterochromatin protein 1
Histone
Methylation
Molecular biology
PRC2
Phenotype
Promoter