{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:59:36Z","timestamp":1789207176908,"version":"build-2803163510"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P50 AR065139"],"award-info":[{"award-number":["P50 AR065139"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P01 NS069539"],"award-info":[{"award-number":["P01 NS069539"]}],"id":[{"id":"10.13039\/100000002","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"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to the discovery of candidate therapeutics, and it is important to identify markers of disease activity to inform clinical trial design. For drugs that inhibit DUX4 expression, measuring DUX4 or DUX4-target gene expression might be an interim measure of drug activity; however, only a subset of FHSD muscle biopsies shows evidence of DUX4 expression. Our prior study showed that MRI T2-STIR-positive muscles had a higher probability of showing DUX4 expression than muscles with normal MRI characteristics. In the current study, we performed a 1-year follow-up assessment of the same muscle with repeat MRI and muscle biopsy. There was little change in MRI characteristics over the 1-year period and, similar to the initial evaluation, MRI T2-STIR-postive muscles had a higher expression of DUX4-regulated genes, as well as genes associated with inflammation, extracellular matrix and cell cycle. Compared to the initial evaluation, overall the level of expression in these gene categories remained stable over the 1-year period; however, there was some variability for each individual muscle biopsied. The pooled data from both the initial and 1-year follow-up evaluations identified several FSHD subgroups based on gene expression, as well as a set of genes\u2014composed of DUX4-target genes, inflammatory and immune genes and cell cycle control genes\u2014that distinguished all of the FSHD samples from the controls. These candidate markers of disease activity need to be replicated in independent datasets and, if validated, may provide useful measures of disease progression and response to therapy.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa031","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T12:14:28Z","timestamp":1582028068000},"page":"1030-1043","source":"Crossref","is-referenced-by-count":71,"title":["Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies"],"prefix":"10.1093","volume":"29","author":[{"given":"Chao-Jen","family":"Wong","sequence":"first","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo H","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Washington, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth D","family":"Friedman","sequence":"first","affiliation":[{"name":"Department of Radiology, Seattle Children\u2019s Hospital, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Shaw","sequence":"first","affiliation":[{"name":"Department of Radiology, Seattle Children\u2019s Hospital, Seattle, WA 98105, USA"},{"name":"Department of Radiology, University of Washington, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy E","family":"Campbell","sequence":"first","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris B","family":"Budech","sequence":"first","affiliation":[{"name":"Department of Radiology, Seattle Children\u2019s Hospital, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leann M","family":"Lewis","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J F L","family":"Lemmers","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M","family":"Statland","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KA 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silv\u00e8re M","family":"van der Maarel","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi N","family":"Tawil","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Leiden University Medical Center, 2333, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J","family":"Tapscott","sequence":"first","affiliation":[{"name":"Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"},{"name":"Department of Neurology, University of Washington, Seattle, WA 98105, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,2,21]]},"reference":[{"key":"2020041508053052700_ref1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/2044-5040-4-12","article-title":"Facioscapulohumeral dystrophy: the path to consensus on pathophysiology","volume":"4","author":"Tawil","year":"2014","journal-title":"Skelet. 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Genet."},{"key":"2020041508053052700_ref5","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-017-0134-x","article-title":"BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells","volume":"7","author":"Campbell","year":"2017","journal-title":"Skelet. Muscle"},{"key":"2020041508053052700_ref6","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1124\/jpet.119.259663","article-title":"Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy","volume":"370","author":"Oliva","year":"2019","journal-title":"J. Pharmacol. Exp. 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