{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:20:32Z","timestamp":1790122832554,"version":"4.0.1"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,17]],"date-time":"2010-11-17T00:00:00Z","timestamp":1289952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tourette Syndrome (TS) is diagnosed based upon clinical criteria including motor and vocal tics. We hypothesized that differences in exon expression and splicing might be useful for pathophysiology and diagnosis. To demonstrate exon expression and alternatively spliced gene differences in blood of individuals with TS compared to healthy controls (HC), RNA was isolated from the blood of 26 un\u2010medicated TS subjects and 23 HC. Each sample was run on Affymetrix Human Exon 1.0 ST (HuExon) arrays and on 3\u2032 biased U133 Plus 2.0 (HuU133) arrays. To investigate the differentially expressed exons and transcripts, analyses of covariance (ANCOVA) were performed, controlling for age, gender, and batch. Differential alternative splicing patterns between TS and HC were identified using analyses of variance (ANOVA) models in Partek. Three hundred and seventy\u2010six exon probe sets were differentially expressed between TS and HC (raw<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.005, fold change &gt;|1.2|) that separated TS and HC subjects using hierarchical clustering and Principal Components Analysis. The probe sets predicted TS compared to HC with a &gt;90% sensitivity and specificity using a 10\u2010fold cross\u2010validation. Ninety genes (transcripts) had differential expression of a single exon (raw<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.005) and were predicted to be alternatively spliced (raw<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05) in TS compared to HC. These preliminary findings might provide insight into the pathophysiology of TS and potentially provide prognostic and diagnostic biomarkers. However, the findings are tempered by the small sample size and multiple comparisons and require confirmation using PCR or deep RNA sequencing and a much larger patient population. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.31140","type":"journal-article","created":{"date-parts":[[2010,11,17]],"date-time":"2010-11-17T20:14:18Z","timestamp":1290024858000},"page":"72-78","source":"Crossref","is-referenced-by-count":33,"title":["Exon expression and alternatively spliced genes in tourette syndrome"],"prefix":"10.1002","volume":"156","author":[{"given":"Yingfang","family":"Tian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac H.","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan R.","family":"Gunther","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley P.","family":"Ander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dazhi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Lit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen C.","family":"Jickling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blythe A.","family":"Corbett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Netty G.P.","family":"Bos\u2010Veneman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pieter J.","family":"Hoekstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank R.","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2006.02.009"},{"key":"e_1_2_6_3_1","unstructured":"Affymetrix white paper. Identifying and validating alternative splicing variants.http:\/\/www.affymetrix.com\/support\/support_result.affx. p10."},{"key":"e_1_2_6_4_1","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"APA","year":"2000"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm278"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.72.121801.161720"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0504921102"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/omi.2006.10.344"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1048803"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507666102"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2004.06.019"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lfs.2003.09.037"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2006.06.012"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0031-6997(24)01510-2","article-title":"Norepinephrine and beta 2\u2010adrenergic receptor stimulation regulate CD4+ T and B lymphocyte function in vitro and in vivo","volume":"53","author":"Kohm AP","year":"2001","journal-title":"Pharmacol Rev"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)11526-1"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-198907000-00015"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210081001"},{"key":"e_1_2_6_18_1","article-title":"Blood gene expression correlated with tic severity in medicated and unmedicated patients with Tourette Syndrome","author":"Liao IH","year":"2011","journal-title":"Pharmacogenomics"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30550"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychires.2008.03.012"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.03.032"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22504"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1645"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1516-44462005000100006"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2008.02159.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000152105.79665.C6"},{"key":"e_1_2_6_27_1","doi-asserted-by":"crossref","first-page":"161","DOI":"10.31887\/DCNS.2007.9.2\/nmueller","article-title":"Tourette's syndrome: Clinical features, pathophysiology, and therapeutic approaches","volume":"9","author":"Muller N","year":"2007","journal-title":"Dialogues Clin Neurosci"},{"key":"e_1_2_6_28_1","unstructured":"Partek Manual.Alternative splice analysis of exon data in Partek Genomics Suite. p11."},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.174.11.7242"},{"key":"e_1_2_6_30_1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1002\/ajmg.b.31062","article-title":"Analysis of whole genome biomarker expression in blood and brain","volume":"153","author":"Rollins B","year":"2010","journal-title":"Am J Med Genet Part B"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00809.x"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.11.1529"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70018-1"},{"key":"e_1_2_6_34_1","volume-title":"Gene Reviews [Internet]","author":"Stillman A","year":"2009"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.21919"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30272"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1097\/chi.0b013e318068fbcc"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molbrainres.2003.10.014"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20291"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.2.210"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jcbfm.9600264"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.173.8.5298"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12640\u2010009\u20109126\u2010x"},{"key":"e_1_2_6_44_1","first-page":"684","article-title":"Family study and segregation analysis of Tourette syndrome: Evidence for a mixed model of inheritance","volume":"59","author":"Walkup JT","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0149-7634(05)80186-1"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.2008.22"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2006.05.016"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1142\/6016"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.31140","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.31140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T01:25:40Z","timestamp":1740705940000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.31140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,17]]},"references-count":47,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/ajmg.b.31140"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.31140","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,17]]}}}