Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures by Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G. Miller

“…Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. …”
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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease by 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

“…Moreover, it also results in enhanced silencing at the facioscapulohumeral muscular dystrophy associated macrosatellite-array, D4Z4, resulting in enhanced repression of DUX4 encoded by this repeat. …”
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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes by Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel

“…Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). …”
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The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping by Mengmeng Li, Na Hao, Jiazhen Chang, Kaili Yin, Xueting Yang, Yaru Wang, Yi Dai, Yulin Jiang

“…Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35. …”
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Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease by Giulia Colelli, Giulia Colelli, Giulia Colelli, Leonardo Barzaghi, Leonardo Barzaghi, Matteo Paoletti, Mauro Monforte, Niels Bergsland, Niels Bergsland, Giulia Manco, Xeni Deligianni, Xeni Deligianni, Francesco Santini, Francesco Santini, Enzo Ricci, Giorgio Tasca, Giorgio Tasca, Antonietta Mira, Antonietta Mira, Silvia Figini, Silvia Figini, Anna Pichiecchio, Anna Pichiecchio

“…The aim of this study is to evaluate the feasibility of using a conventional short-tau inversion recovery (STIR) sequence to predict fat fraction (FF) and water T2 (wT2) in skeletal muscle introducing a radiomic workflow with standardized feature extraction combined with machine learning algorithms.MethodsTwenty-five patients with facioscapulohumeral muscular dystrophy (FSHD) were scanned at calf level using conventional STIR sequence and qMRI techniques. …”
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Screening Station, a novel laboratory automation system for physiologically relevant cell-based assays by Ichiji Namatame, Kana Ishii, Takashi Shin, Daisuke Shimojo, Yukiko Yamagishi, Hidemitsu Asano, Yuuki Kishimoto, Hiromitsu Fuse, Yohei Nishi, Hidetoshi Sakurai, Tatsutoshi Nakahata, Haruna Sasaki-Iwaoka

“…By scheduling various combinations of the three workflows, we successfully automated the culture and medium exchange processes for iPSCs derived from patients with facioscapulohumeral muscular dystrophy, confirmation of their differentiation status by live-cell imaging, and confirmation of the presence of differentiation markers by immunostaining. …”
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A non-viral genome editing platform for site-specific insertion of large transgenes by Chaudhari, Namrata, Rickard, Amanda M., Roy, Suki, Dröge, Peter, Makhija, Harshyaa

“…In this study, we demonstrate the applicability of our lambda integrase-based genome insertion tool for human cell and gene therapy applications that require insertions of large functional genes, as exemplified by the integration of a functional copy of the F8 gene and a Double Homeobox Protein 4 (DUX4)-based reporter cassette for potential hemophilia A gene therapy and facioscapulohumeral muscular dystrophy (FSHD)-based high-throughput drug screening purposes, respectively. …”
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iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling by Dongsheng Guo, Katelyn Daman, Jennifer JC Chen, Meng-Jiao Shi, Jing Yan, Zdenka Matijasevic, Amanda M Rickard, Monica H Bennett, Alex Kiselyov, Haowen Zhou, Anne G Bang, Kathryn R Wagner, René Maehr, Oliver D King, Lawrence J Hayward, Charles P Emerson Jr

“…As models of disease, iMyoblasts from individuals with Facioscapulohumeral Muscular Dystrophy revealed a previously unknown epigenetic regulatory mechanism controlling developmental expression of the pathological DUX4 gene. iMyoblasts from Limb-Girdle Muscular Dystrophy R7 and R9 and Walker Warburg Syndrome patients modeled their molecular disease pathologies and were responsive to small molecule and gene editing therapeutics. …”
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The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins by Clothilde Claus, Moriya Slavin, Eugénie Ansseau, Céline Lancelot, Karimatou Bah, Saskia Lassche, Manon Fiévet, Anna Greco, Sara Tomaiuolo, Alexandra Tassin, Virginie Dudome, Benno Kusters, Anne-Emilie Declèves, Dalila Laoudj-Chenivesse, Baziel G. M. van Engelen, Denis Nonclercq, Alexandra Belayew, Nir Kalisman, Frédérique Coppée

“…Here, we provide further evidence for such a role in skeletal muscles from patients affected with facioscapulohumeral muscular dystrophy (FSHD). Methods DUX4c was studied at RNA and protein levels in FSHD muscle cell cultures and biopsies. …”
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Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene by Abhijit Dandapat, Darko Bosnakovski, Lynn M. Hartweck, Robert W. Arpke, Kristen A. Baltgalvis, Derek Vang, June Baik, Radbod Darabi, Rita C.R. Perlingeiro, F. Kent Hamra, Kalpna Gupta, Dawn A. Lowe, Michael Kyba

“…Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. …”
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