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Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
Jones, Takako Iida, Chen, Jennifer C J, Rahimov, Fedik, Homma, Sachiko, Arashiro, Patricia, Beermann, Mary Lou, King, Oliver D, Miller, Jeffrey B, Kunkel, Louis M, Emerson, Jr, Charles P, Wagner, Kathryn R, Jones, Peter L
Published in Human molecular genetics (15.10.2012)
Published in Human molecular genetics (15.10.2012)
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Journal Article
DUX4, a Zygotic Genome Activator, Is Involved in Oncogenesis and Genetic Diseases
Karpukhina, Anna, Vassetzky, Yegor
Published in Russian journal of developmental biology (01.05.2020)
Published in Russian journal of developmental biology (01.05.2020)
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Journal Article
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression
Wong, Chao-Jen, Friedman, Seth D, Snider, Lauren, Bennett, Sean R, Jones, Takako I, Jones, Peter L, Shaw, Dennis W W, Blemker, Silvia S, Riem, Lara, DuCharme, Olivia, Lemmers, Richard J F L, van der Maarel, Silvère M, Wang, Leo H, Tawil, Rabi, Statland, Jeffrey M, Tapscott, Stephen J
Published in Human molecular genetics (08.04.2024)
Published in Human molecular genetics (08.04.2024)
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Journal Article
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy
Jones, Takako I, King, Oliver D, Himeda, Charis L, Homma, Sachiko, Chen, Jennifer C J, Beermann, Mary Lou, Yan, Chi, Emerson, Charles P, Miller, Jeffrey B, Wagner, Kathryn R, Jones, Peter L
Published in Clinical epigenetics (29.03.2015)
Published in Clinical epigenetics (29.03.2015)
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Journal Article
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano
Published in Frontiers in neurology (28.11.2018)
Published in Frontiers in neurology (28.11.2018)
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Journal Article
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Jones, Takako I, Yan, Chi, Sapp, Peter C, McKenna-Yasek, Diane, Kang, Peter B, Quinn, Colin, Salameh, Johnny S, King, Oliver D, Jones, Peter L
Published in Clinical epigenetics (29.10.2014)
Published in Clinical epigenetics (29.10.2014)
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Journal Article
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
Mitsuhashi, Satomi, Boyden, Steven E., Estrella, Elicia A., Jones, Takako I., Rahimov, Fedik, Yu, Timothy W., Darras, Basil T., Amato, Anthony A., Folkerth, Rebecca D., Jones, Peter L., Kunkel, Louis M., Kang, Peter B.
Published in Neuromuscular disorders : NMD (01.12.2013)
Published in Neuromuscular disorders : NMD (01.12.2013)
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Journal Article