A Systemically Administered Unconjugated Antisense Oligonucleotide Targeting DUX4 Improves Muscular Injury and Motor Function in FSHD Model Mice by Tetsuhiro Kakimoto, Akira Ogasawara, Kiyoshi Ishikawa, Takashi Kurita, Kumiko Yoshida, Shuichi Harada, Taeko Nonaka, Yoshimi Inoue, Keiko Uchida, Takashi Tateoka, Tetsuya Ohta, Shinji Kumagai, Takashi Sasaki, Hajime Aihara

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells by Christopher D. Sarsons, Dean Gilham, Laura M. Tsujikawa, Sylwia Wasiak, Li Fu, Brooke D. Rakai, Stephanie C. Stotz, Agostina Carestia, Michael Sweeney, Ewelina Kulikowski

Subjects: “…facioscapulohumeral muscular dystrophy…”
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Analysis of DUX4 Expression in Bone Marrow and Re-Discussion of DUX4 Function in the Health and Disease by Ceren HANGUL, Oznur TOKTA, Sibel BERKER KARAUZUM, Bahar AKKAYA, Hulya YILDIRIM, Funda TAYFUN KUPESIZ, Ayse Nur AKINEL

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Orofacial Manifestations Associated with Muscular Dystrophies: A Review by Petros Papaefthymiou, Kyriaki Kekou, Fulya Özdemir

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Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study by Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil, on behalf of the ReSolve Investigators and the FSHD CTRN18

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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Participant experiences of guided self-help Acceptance and Commitment Therapy for improving quality of life in muscle disease: a nested qualitative study within the ACTMus randomiz... by Victoria Edwards, Chiara Vari, Michael Rose, Christopher D. Graham, Nicola O'Connell, Emma Taylor, Lance M. McCracken, Aleksandar Radunovic, Wojtek Rakowicz, Sam Norton, Sam Norton, Trudie Chalder

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The endosomal escape vehicle platform enhances delivery of oligonucleotides in preclinical models of neuromuscular disorders by Xiang Li, Mahboubeh Kheirabadi, Patrick G. Dougherty, Kimberli J. Kamer, Xiulong Shen, Nelsa L. Estrella, Suresh Peddigari, Anushree Pathak, Sara L. Blake, Emmanuelle Sizensky, Carmen del Genio, Arti B. Gaur, Mohanraj Dhanabal, Mahasweta Girgenrath, Natarajan Sethuraman, Ziqing Qian

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Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence by Isabel F. Masteika, Anvitha Sathya, Sachiko Homma, Bess M. Miller, Frederick M. Boyce, Jeffrey Boone Miller

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Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD by Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam C. Herman, Zarife Sahenk, Louise R. Rodino-Klapac, Scott Q. Harper

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Avaliação dos resultados da artrodese da articulação escapulotorácica no tratamento da escápula alada na distrofia fascioescapulumeral Evaluation of scapulothoracic arthrodesis res... by Luciano Antonio Nassar Pellegrino, Dulce Egydio de Carvalho, Gustavo Barbosa Celia Hinkenickel, Alberto Naoki Miyazaki, Pedro Doneux-Santos, Marcelo Fregoneze, Luciana Andrade da Silva, Sérgio Luiz Checchia

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Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series by Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella

Subjects: “…facioscapulohumeral muscular dystrophy (FSHD)…”
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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice by Linde F. Bouwman, Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silvère M. van der Maarel, Jessica C. de Greef

Subjects: “…Facioscapulohumeral muscular dystrophy…”
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First person – Andreia Nunes

“…Andreia Nunes is first author on ‘ Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models’, published in DMM. …”
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Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA by John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara

“…DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and translocations overexpressing the DUX4 double homeodomain cause B cell leukemia. …”
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p38 MAPKs — roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets by Christopher M. Brennan, Charles P. Emerson Jr., Jane Owens, Nicolas Christoforou

“…Finally, we discuss targeting p38 MAPKs as a therapeutic approach for treating facioscapulohumeral muscular dystrophy and other muscular dystrophies by addressing multiple pathological mechanisms in skeletal muscle.…”
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Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model by Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba

“…Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist. …”
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Whole Transcriptome Analysis (RNA Sequencing) of Peripheral Blood Mononuclear Cells of Vitiligo Patients by E. Reimann, K. Kingo, M. Karelson, P. Reemann, E. Vasar, H. Silm, S. Kõks

“…The analysis revealed associations between vitiligo and diseases such as lichen planus, limb-girdle muscular dystrophy type 2B, and facioscapulohumeral muscular dystrophy. Additionally, the gene groups with an altered expression pattern are participating in processes such as cell death, survival and signaling, inflammation, and oxidative stress. …”
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Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1. by Steven C Chen, Ellie Frett, Joseph Marx, Darko Bosnakovski, Xylena Reed, Michael Kyba, Brian K Kennedy

“…Although recent publications have linked the molecular events driving facioscapulohumeral muscular dystrophy (FSHD) to expression of the double homeobox transcription factor DUX4, overexpression of FRG1 has been proposed as one alternative causal agent as mice overexpressing FRG1 present with muscular dystrophy. …”
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Independent mechanisms target SMCHD1 to trimethylated histone H3 lysine 9-modified chromatin and the inactive X chromosome by Brideau, N, Coker, H, Gendrel, A, Siebert, C, Bezstarosti, K, Demmers, J, Poot, R, Nesterova, T, Brockdorff, N

“…The chromosomal protein SMCHD1 plays an important role in epigenetic silencing at diverse loci, including the inactive X chromosome, imprinted genes, and the Facioscapulohumeral muscular dystrophy locus. Although homology with canonical SMC family proteins suggests a role in chromosome organization, the mechanisms underlying SMCHD1 function and target site selection remain poorly understood. …”

Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome by Chadwick Brian P, Moseley Shawn, Alexander Graham, Tremblay Deanna C

“…Their importance to human health is clearly demonstrated by the 4q35 macrosatellite D4Z4 that is associated with the onset of the muscle degenerative disease facioscapulohumeral muscular dystrophy. Nevertheless, many other macrosatellite arrays in the human genome remain poorly characterized.…”
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