{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:45:54Z","timestamp":1761007554826,"version":"build-2065373602"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T00:00:00Z","timestamp":1492819200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31571304"],"award-info":[{"award-number":["31571304"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:bold>Background:<\/jats:bold> <jats:italic>TOR1A<\/jats:italic> has been proposed as an important genetic factor in early\u2010onset isolated dystonia. Variants located in the 3\u2032 untranslated region of <jats:italic>TOR1A<\/jats:italic> are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the <jats:italic>TOR1A<\/jats:italic> 3\u2032 untranslated region.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> The last exon of <jats:italic>TOR1A<\/jats:italic> was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 3\u2032 untranslated region.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Except for c.904_906delGAG, 3 rare sequence variants (NM_000113.2:c.*454T&gt;A, NM_000113.2:c.860C&gt;A [rs766483672], and NM_000113.2:c.*302T&gt;A [rs563498119]) were found only in the patients. The c.*302T&gt;A variant was located in the conserved region of the human microRNA (hsa\u2010miR\u2010494) binding site. A luciferase reporter assay showed that c.*302T&gt;A significantly altered gene expression.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> Population frequencies, computational analyses, and function experiments in this study implied that c.*302T&gt;A is associated with dystonia. \u00a9 2017 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.27016","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T06:43:21Z","timestamp":1492843401000},"page":"1083-1087","source":"Crossref","is-referenced-by-count":3,"title":["A rare variant in <i>TOR1A<\/i> exon 5 associated with isolated dystonia in southwestern Chinese"],"prefix":"10.1002","volume":"32","author":[{"given":"Yuzhou","family":"Long","sequence":"first","affiliation":[{"name":"Neurology Department Fourth Affiliated Hospital of Kunming Medical University Kunming 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