Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy by Massimo Ganassi, Nicolas Figeac, Magalie Reynaud, Huascar Pedro Ortuste Quiroga, Peter S. Zammit

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A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2 by Liang-Liang Qiu, Xiao-Dan Lin, Guo-Rong Xu, Li-Li Wang, Zhi-Xian Ye, Feng Lin, Hai-Zhu Chen, Min-Ting Lin, Nai-Qing Cai, Ming Jin, Liu-Qing Xu, Wei Hu, Ning Wang, Zhi-Qiang Wang, Li-Shao Guo

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Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study by Edyta Blaszczyk, Carolin Lim, Peter Kellman, Luisa Schmacht, Jan Gröschel, Simone Spuler, Jeanette Schulz-Menger

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Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target by Philipp Heher, Massimo Ganassi, Adelheid Weidinger, Elise N. Engquist, Johanna Pruller, Thuy Hang Nguyen, Alexandra Tassin, Anne-Emilie Declèves, Kamel Mamchaoui, Christopher R.S. Banerji, Johannes Grillari, Andrey V. Kozlov, Peter S. Zammit

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing by Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, Shinichiro Hayashi, Yuichi Goto, Satoru Noguchi, Ichizo Nishino

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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Persistent Fibroadipogenic Progenitor Expansion Following Transient DUX4 Expression Provokes a Profibrotic State in a Mouse Model for FSHD by Darko Bosnakovski, David Oyler, Ana Mitanoska, Madison Douglas, Elizabeth T. Ener, Ahmed S. Shams, Michael Kyba

Subjects: “…facioscapulohumeral muscular dystrophy…”
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A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies by Mohammad Reza Seyyed taghia, Reza Jafarzadeh Esfehani, Reza Boostani, Mohammad Shariati, Ariane Sadr Nabavi

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Frontier in Neurology Research Beyond Neurodegenerative Diseases by Wei-Dong Le

Subjects: “…Neurology; Neurodegenerative diseases; facioscapulohumeral muscular dystrophy; spinocerebellar ataxias…”
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Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (<it>FRG1</it>) expression during human myogenic differentiation by Marozzi Anna, Meneveri Raffaella, Mora Marina, Brunelli Silvia, Cheli Stefania, Grasser Florian, Ramirez Gabriella, Bodega Beatrice, Mueller Stefan, Battaglioli Elena, Ginelli Enrico

“…<p>Abstract</p> <p>Background</p> <p>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. …”
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Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study by Zhiqiang Wang, Liangliang Qiu, Minting Lin, Long Chen, Fuze Zheng, Lin Lin, Feng Lin, Zhixian Ye, Xiaodan Lin, Junjie He, Lili Wang, Xin Lin, Qifang He, Wanjin Chen, Yi Lin, Ying Fu, Ning Wang

“…Summary: Background: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a rare disease, which is often underdiagnosed due to its heterogeneous presentations and complex molecular genetic basis, leading to a lack of population-based epidemiology data, especially of prevalence and disease progression. …”
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P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping* by Naga Guruju, Vanessa Jump, Babi Nallamilli, Ruby Liu, Zhiwen Luo, Madhuri Hegde

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Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up by Mariacristina Parravano, Eliana Costanzo, Lucilla Barbano, Pasquale Viggiano, Daniele De Geronimo, Giulio Antonelli, Vincenzo Parisi, Monica Varano, Lucia Ziccardi

“…Background: Autosomal-dominant facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy with associated retinal abnormalities such as retinal vessel tortuosity, focal retinal pigment epithelium defect and large telangiectasia vessels. …”
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Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention by Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4 by Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M. Boyce, Jeffrey Boone Miller

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BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells by Amy E. Campbell, Jonathan Oliva, Matthew P. Yates, Jun Wen Zhong, Sean C. Shadle, Lauren Snider, Nikita Singh, Shannon Tai, Yosuke Hiramuki, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Francis M. Sverdrup

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study by Mary Lou Beermann, Sachiko Homma, Jeffrey Boone Miller

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An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy by Matthew V Cowley, Johanna Pruller, Massimo Ganassi, Peter S Zammit, Christopher RS Banerji

Subjects: “…facioscapulohumeral muscular dystrophy…”
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FSHD Therapeutic Strategies: What Will It Take to Get to Clinic? by Charis L. Himeda, Peter L. Jones

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation by Mitsuru Sasaki-Honda, Akihiro Kagita, Tatsuya Jonouchi, Toshiyuki Araki, Akitsu Hotta, Hidetoshi Sakurai

“…Facioscapulohumeral muscular dystrophy type2 (FSHD2), which constitutes approximately 5% of total FSHD cases and develops the same symptoms as FSHD type 1 (FSHD1), is caused by various mutations in genes including SMCHD1. …”
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Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD by Charis L. Himeda, Takako I. Jones, Peter L. Jones

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