Výsledky vyhledávání - Judit Balog

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  1. 1
    MP2C, a plant protein phosphatase 2C, functions as a negative regulator of mitogen-activated protein kinase pathways in yeast and plants

    MP2C, a plant protein phosphatase 2C, functions as a negative regulator of mitogen-activated protein kinase pathways in yeast and plants Autor Irute Meskiene, László Bögre, Walter Glaser, Judit Balog, Markus Brandstötter, Karin Zwerger, Gustav Ammerer, Heribert Hirt

    Vydáno 1998
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  2. 2
    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

    DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle Autor Zizhen Yao, Lauren Snider, Judit Balog, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil, Stephen J. Tapscott

    Vydáno 2014
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  3. 3
    Premature termination codons in the <i>DMD</i> gene cause reduced local mRNA synthesis

    Premature termination codons in the <i>DMD</i> gene cause reduced local mRNA synthesis Autor Raquel García‐Rodríguez, Monika Hiller, Laura Jiménez-Gracia, Zarah van der Pal, Judit Balog, Kevin Adamzek, Annemieke Aartsma‐Rus, Pietro Spitali

    Vydáno 2020
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  4. 4
    A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells

    A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells Autor Japke A.E. Polman, Jennifer E Welten, Danny S Bosch, Robert T de Jonge, Judit Balog, Silvère M. van der Maarel, E. R. de Kloet, Nicole A. Datson

    Vydáno 2012
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  5. 5
    Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

    Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development Autor Anita van den Heuvel, Ahmed Mahfouz, Susan L. Kloet, Judit Balog, Baziel G.M. van Engelen, Rabi Tawil, Stephen J. Tapscott, Silvère M. van der Maarel

    Vydáno 2018
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  6. 6
    Correlation analysis of clinical parameters with epigenetic modifications in the <i>DUX4</i> promoter in FSHD

    Correlation analysis of clinical parameters with epigenetic modifications in the <i>DUX4</i> promoter in FSHD Autor 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

    Vydáno 2012
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  7. 7
    Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

    Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs Autor 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

    Vydáno 2014
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  8. 8
    NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain

    NeuroD Factors Discriminate Mineralocorticoid From Glucocorticoid Receptor DNA Binding in the Male Rat Brain Autor 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

    Vydáno 2017
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  9. 9
    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 Autor 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

    Vydáno 2015
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  10. 10
    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy

    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy Autor 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

    Vydáno 2020
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  11. 11
    Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

    Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD Autor 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

    Vydáno 2013
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  12. 12
    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 Autor 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

    Vydáno 2013
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  13. 13
    Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

    Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD) Autor 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

    Vydáno 2009
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  14. 14
    Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

    Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 Autor 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

    Vydáno 2014
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  15. 15
    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 Autor 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

    Vydáno 2011
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  16. 16
    Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

    Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy Autor 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

    Vydáno 2016
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  17. 17
    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Autor 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

    Vydáno 2012
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