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Research Paper

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD

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Pages 579-584 | Published online: 01 Jun 2012

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Judit Balog, Peter E. 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. (2015) Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 . Epigenetics 10:12, pages 1133-1142.
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Peter E. Thijssen, Elmar W. Tobi, Judit Balog, Suzanne G. Schouten, Dennis Kremer, Fatiha El Bouazzaoui, Peter Henneman, Hein Putter, P. Eline Slagboom, Bastiaan T. Heijmans & Silvère M. Van der Maarel. (2013) Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence. Epigenetics 8:5, pages 512-521.
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Daphne S. Cabianca, Valentina Casa & Davide Gabellini. (2012) A novel molecular mechanism in human genetic disease. RNA Biology 9:10, pages 1211-1217.
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Anna Karpukhina, Eugenia Tiukacheva, Carla Dib & Yegor S. Vassetzky. (2021) Control of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer. Trends in Molecular Medicine 27:6, pages 588-601.
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Charis L. Himeda, Takako I. Jones & Peter L. Jones. (2021) Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD. Molecular Therapy - Methods & Clinical Development 20, pages 298-311.
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Afagh Alavi, Sara Esmaeili, Shahriar Nafissi, Kimia Kahrizi & Hossein Najmabadi. (2018) Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. Neuromuscular Disorders 28:4, pages 303-314.
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Natasha Jansz, Kelan Chen, James M. Murphy & Marnie E. Blewitt. (2017) The Epigenetic Regulator SMCHD1 in Development and Disease. Trends in Genetics 33:4, pages 233-243.
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Takako I. Jones, Charis L. Himeda, Daniel P. Perez & Peter L. Jones. (2017) Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy. Neuromuscular Disorders 27:3, pages 221-238.
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Lucia Daxinger, Stephen J Tapscott & Silvère M van der Maarel. (2015) Genetic and epigenetic contributors to FSHD. Current Opinion in Genetics & Development 33, pages 56-61.
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Richard J. L. F. Lemmers, Marlinde L. van den Boogaard, Patrick J. van der Vliet, Colleen M. Donlin-Smith, Sharon P. Nations, Claudia A. L. Ruivenkamp, Patricia Heard, Bert Bakker, Stephen Tapscott, Jannine D. Cody, Rabi Tawil & Silvère M. van der Maarel. (2015) Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome . Human Mutation 36:7, pages 679-683.
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Charis L. HimedaTakako I. JonesPeter L. Jones. (2015) Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and Disease. Antioxidants & Redox Signaling 22:16, pages 1463-1482.
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Peter E Thijssen, Judit Balog, Zizhen Yao, Tan Phát Pham, Rabi Tawil, Stephen J Tapscott & Silvère M Van der Maarel. (2014) DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy. Skeletal Muscle 4:1.
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Zizhen Yao, Lauren Snider, Judit Balog, Richard J.L.F. Lemmers, Silvère M. Van Der Maarel, Rabi Tawil & Stephen J. Tapscott. (2014) DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Human Molecular Genetics 23:20, pages 5342-5352.
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Alexander R. BallJr.Jr., Yen-Yun Chen & Kyoko Yokomori. (2014) Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1839:3, pages 191-202.
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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. (2013) The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1. The American Journal of Human Genetics 93:4, pages 744-751.
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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. (2013) Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD. PLoS Genetics 9:4, pages e1003415.
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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 M Aartsma-Rus, Rune R Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N Filippova, Bert Bakker, Michael J Bamshad, Stephen J Tapscott, Daniel G Miller & Silvère M van der Maarel. (2012) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genetics 44:12, pages 1370-1374.
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