{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:04:49Z","timestamp":1791173089835,"version":"4.1.0"},"reference-count":148,"publisher":"The Company of Biologists","issue":"10","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":133,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54 2P50HD060848-12"],"award-info":[{"award-number":["U54 2P50HD060848-12"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009824","name":"FSH Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012644","name":"Friends of FSH Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012644","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Carrino Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound disability. Myopathy results from epigenetic de-repression of the D4Z4 microsatellite repeat array on chromosome 4, which allows misexpression of the developmentally regulated DUX4 gene. DUX4 is toxic when misexpressed in skeletal muscle and disrupts several cellular pathways, including myogenic differentiation and fusion, which likely underpins pathology. DUX4 and the D4Z4 array are strongly conserved only in primates, making FSHD modeling in non-primate animals difficult. Additionally, its cytotoxicity and unusual mosaic expression pattern further complicate the generation of in vitro and in vivo models of FSHD. However, the pressing need to develop systems to test therapeutic approaches has led to the creation of multiple engineered FSHD models. Owing to the complex genetic, epigenetic and molecular factors underlying FSHD, it is difficult to engineer a system that accurately recapitulates every aspect of the human disease. Nevertheless, the past several years have seen the development of many new disease models, each with their own associated strengths that emphasize different aspects of the disease. Here, we review the wide range of FSHD models, including several in vitro cellular models, and an array of transgenic and xenograft in vivo models, with particular attention to newly developed systems and how they are being used to deepen our understanding of FSHD pathology and to test the efficacy of drug candidates.<\/jats:p>","DOI":"10.1242\/dmm.046904","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T14:05:12Z","timestamp":1603893912000},"source":"Crossref","is-referenced-by-count":17,"title":["Cellular and animal models for facioscapulohumeral muscular dystrophy"],"prefix":"10.1242","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9961-9839","authenticated-orcid":false,"given":"Alec M.","family":"DeSimone","sequence":"first","affiliation":[{"name":"Yale School of Medicine , Department of Genetics , New Haven, CT 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Cohen","sequence":"additional","affiliation":[{"name":"Yale School of Medicine , Department of Genetics , New Haven, CT 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Yale School of Medicine , Department of Genetics , New Haven, CT 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5889-2169","authenticated-orcid":false,"given":"Angela","family":"Lek","sequence":"additional","affiliation":[{"name":"Yale School of Medicine , Department of Genetics , New Haven, CT 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2020,10,28]]},"reference":[{"key":"2024061302281059600_DMM046904C1","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1016\/j.nmd.2006.05.220","article-title":"G.P.9 06 characterization of the DUX4c gene located within a repeated element close to the FSHD locus","volume":"16","author":"Ansseau","year":"2006","journal-title":"Neuromuscul. 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It induces the MYF5 protein and human myoblast proliferation","volume":"4","author":"Ansseau","year":"2009","journal-title":"PLoS ONE"},{"key":"2024061302281059600_DMM046904C3","doi-asserted-by":"publisher","first-page":"S56","DOI":"10.1002\/mus.880181312","article-title":"Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses","volume":"18","author":"Arahata","year":"1995","journal-title":"Muscle Nerve"},{"key":"2024061302281059600_DMM046904C4","doi-asserted-by":"publisher","first-page":"2224","DOI":"10.1093\/hmg\/ddz043","article-title":"PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum. Mol. 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