{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T03:06:27Z","timestamp":1791515187362,"version":"4.3.4"},"reference-count":28,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5746","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2005,10,14]]},"abstract":"<jats:p>\n                    Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied\n                    <jats:italic>Slit and Trk-like 1<\/jats:italic>\n                    (\n                    <jats:italic>SLITRK1<\/jats:italic>\n                    ) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes.\n                    <jats:italic>SLITRK1<\/jats:italic>\n                    mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare\n                    <jats:italic>SLITRK1<\/jats:italic>\n                    sequence variants with TS.\n                  <\/jats:p>","DOI":"10.1126\/science.1116502","type":"journal-article","created":{"date-parts":[[2005,10,13]],"date-time":"2005-10-13T19:13:13Z","timestamp":1129230793000},"page":"317-320","source":"Crossref","is-referenced-by-count":813,"title":["Sequence Variants in\n                    <i>SLITRK1<\/i>\n                    Are Associated with Tourette's Syndrome"],"prefix":"10.1126","volume":"310","author":[{"given":"Jesse F.","family":"Abelson","sequence":"first","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth Y.","family":"Kwan","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian J.","family":"O'Roak","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle Y.","family":"Baek","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Althea A.","family":"Stillman","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol A.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Pauls","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mladen-Roko","family":"Ras\u030cin","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole R.","family":"Davis","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Gulhan","family":"Ercan-Sencicek","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle H.","family":"Guez","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, 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F.","family":"Leckman","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"IV","given":"Leon S.","family":"Dure","sequence":"additional","affiliation":[{"name":"Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA."},{"name":"Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, 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T. Walkup et al., Am. J. Hum. Genet.59, 684 (1996).","journal-title":"Am. J. Hum. 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NINDS-R01 NS054273 (N.S.) awards from the Shepherd Foundation and the Lawrence Family (M.W.S.) and a Natural Sciences and Engineering Research Council postgraduate scholarship (K.Y.K.). We thank the additional members of the Yale Tourette Syndrome Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) Consortium: R.A. King B. Coffey P. J. Lombroso E. Kaplan and P. Como; S. Hannigen H. Grantz L. Katsovich D. Pendley C. Drazinic C. Nelson-Williams J. J. Miller J. Garoza N. Lifton B. Levy M. Pappy and L. Golovyan for their assistance; S. Levi Pearl of the Tourette Syndrome Association and the Tourette Syndrome Association International Consortium for Genetics; and the participating patients and families without whom this work would not have been possible."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1116502","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T21:02:01Z","timestamp":1704834121000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1116502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,14]]},"references-count":28,"journal-issue":{"issue":"5746","published-print":{"date-parts":[[2005,10,14]]}},"alternative-id":["10.1126\/science.1116502"],"URL":"https:\/\/doi.org\/10.1126\/science.1116502","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.5034.462521","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.5034.358486","asserted-by":"object"}]},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,14]]}}}