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Amy E. Campbell, Jamshid Arjomand, Oliver D. King, Rabi Tawil & Sujatha Jagannathan. (2023) A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. Journal of Neuromuscular Diseases 10:6, pages 1031-1040.
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Dongxu Zheng, Annelot Wondergem, Susan Kloet, Iris Willemsen, Judit Balog, Stephen J Tapscott, Ahmed Mahfouz, Anita van den Heuvel & Silvère M van der Maarel. (2023) snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis. Human Molecular Genetics.
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Andres Tapia del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D. Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey Breslin, Harald Oey, Yvonne D. Krom, Dinja van der Hoorn, Linde F. Bouwman, Timothy M. Johanson, Matthew E. Ritchie, Quentin A. Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M. van der Maarel, Edwina McGlinn, James M. Murphy, Andrew Keniry, Jessica C. de Greef & Marnie E. Blewitt. (2023) SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease. Nature Communications 14:1.
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Darina Šikrová, Alessandra M. Testa, Iris Willemsen, Anita van den Heuvel, Stephen J. Tapscott, Lucia Daxinger, Judit Balog & Silvère M. van der Maarel. (2023) SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. Communications Biology 6:1.
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Emanuele Mocciaro, Roberto Giambruno, Stefano Micheloni, Filippo M Cernilogar, Annapaola Andolfo, Cristina Consonni, Maria Pannese, Giulia Ferri, Valeria Runfola, Gunnar Schotta & Davide Gabellini. (2023)
WDR5 is required for
DUX4
expression and its pathological effects in FSHD muscular dystrophy
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Elisa Duranti & Chiara Villa. (2023) Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments. International Journal of Molecular Sciences 24:11, pages 9503.
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Keith E. Latham. (2023) Preimplantation embryo gene expression: 56 years of discovery, and counting. Molecular Reproduction and Development 90:4, pages 169-200.
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Mara S. Tihaya, Karlien Mul, Judit Balog, Jessica C. de Greef, Stephen J. Tapscott, Rabi Tawil, Jeffrey M. Statland & Silvère M. van der Maarel. (2023) Facioscapulohumeral muscular dystrophy: the road to targeted therapies. Nature Reviews Neurology 19:2, pages 91-108.
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Charis L. Himeda & Peter L. Jones. (2022) FSHD Therapeutic Strategies: What Will It Take to Get to Clinic?. Journal of Personalized Medicine 12:6, pages 865.
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Sujatha Jagannathan. (2022) The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1868:5, pages 166367.
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Richard J L F Lemmers, Patrick J van der Vliet, David San Leon Granado, Nienke van der Stoep, Henk Buermans, Robin van Schendel, Joost Schimmel, Marianne de Visser, Rudy van Coster, Marc Jeanpierre, Pascal Laforet, Meena Upadhyaya, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Nicol C Voermans, Mark Rogers & Silvère M van der Maarel. (2022) High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. Human Molecular Genetics 31:5, pages 748-760.
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Richard J L F Lemmers, Patrick J van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J Tapscott, Nicol C Voermans, Rabi Tawil, George W A M Padberg, Baziel GM van Engelen & Silvère M van der Maarel. (2022)
Chromosome 10q-linked FSHD identifies
DUX4
as principal disease gene
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Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, Román González-Prieto, Jer-Gung Chang, Alfred C. O. Vertegaal, Judit Balog & Silvère M. van der Maarel. (2021) A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression. Scientific Reports 11:1.
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Fangzhi Frank Jia, Alexander P. Drew, Garth Alexander Nicholson, Alastair Corbett & Kishore Raj Kumar. (2021) Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings. Neuromuscular Disorders 31:11, pages 1101-1112.
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S. Attarian, S. Beloribi-Djefaflia, R. Bernard, K. Nguyen, N. Levy, F. Magdinier & E. Salort-Campana. (2021) Distrofia muscolare facio-scapolo-omerale. EMC - Neurologia 21:4, pages 1-9.
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Darina Šikrová, Vlad A. Cadar, Yavuz Ariyurek, Jeroen F.J. Laros, Judit Balog & Silvère M. van der Maarel. (2021) Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy. Molecular Therapy - Nucleic Acids 25, pages 342-354.
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Christopher R S Banerji & Peter S Zammit. (2021) Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. EMBO Molecular Medicine 13:8.
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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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Leo H. Wang & Rabi Tawil. (2021) Current Therapeutic Approaches in FSHD. Journal of Neuromuscular Diseases 8:3, pages 441-451.
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M. Signorelli, A. G. Mason, K. Mul, T. Evangelista, H. Mei, N. Voermans, S. J. Tapscott, R. Tsonaka, B. G. M. van Engelen, S. M. van der Maarel & P. Spitali. (2020) Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients. Scientific Reports 10:1.
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Linde F. Bouwman, Silvère M. van der Maarel & Jessica C. de Greef. (2020) The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy. Current Opinion in Neurology 33:5, pages 635-640.
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Christopher R S Banerji, Don Henderson, Rabi N Tawil & Peter S Zammit. (2020) Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. Human Molecular Genetics 29:16, pages 2746-2760.
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Christopher R S Banerji, Maryna Panamarova & Peter S Zammit. (2020) DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation. Human Molecular Genetics 29:14, pages 2285-2299.
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Eva Sidlauskaite, Laura Le Gall, Virginie Mariot & Julie Dumonceaux. (2020) DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation. Journal of Personalized Medicine 10:3, pages 73.
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Aline Derenne, Alexandra Tassin, Thuy Hang Nguyen, Estelle De Roeck, Vincianne Jenart, Eugénie Ansseau, Alexandra Belayew, Frédérique Coppée, Anne-Emilie Declèves & Alexandre Legrand. (2020) Induction of a local muscular dystrophy using electroporation in vivo: an easy tool for screening therapeutics. Scientific Reports 10:1.
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Homozygous nonsense variant in
LRIF1
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Anna Greco, Remko Goossens, Baziel Engelen & Silvère M. Maarel. (2020) Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. Clinical Genetics 97:6, pages 799-814.
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Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil & Silvère M van der Maarel. (2019)
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