{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:19:28Z","timestamp":1790752768587,"version":"4.1.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Molecular Autism"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/2040-2392-5-14","type":"journal-article","created":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T18:02:25Z","timestamp":1392746545000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["STX1A and Asperger syndrome: a replication study"],"prefix":"10.1186","volume":"5","author":[{"given":"Jaroslava","family":"Durdiakov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varun","family":"Warrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharmila","family":"Banerjee-Basu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Baron-Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhismadev","family":"Chakrabarti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,18]]},"reference":[{"issue":"3","key":"108_CR1","first-page":"771","volume":"17","author":"J McPartland","year":"2006","unstructured":"McPartland J, Klin A: Asperger\u2019s syndrome. Adolesc Med Clin. 2006, 17 (3): 771-788.","journal-title":"Adolesc Med Clin"},{"issue":"6","key":"108_CR2","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1192\/bjp.bp.108.059345","volume":"194","author":"S Baron-Cohen","year":"2009","unstructured":"Baron-Cohen S, Scott FJ, Allison C, Williams J, Bolton P, Matthews FE, Brayne C: Prevalence of autism-spectrum conditions: UK school-based population study. Br J Psychiatry. 2009, 194 (6): 500-509. 10.1192\/bjp.bp.108.059345.","journal-title":"Br J Psychiatry"},{"issue":"1","key":"108_CR3","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/2040-2392-3-9","volume":"3","author":"L Klei","year":"2012","unstructured":"Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Roeder K, Devlin B: Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012, 3 (1): 9-10.1186\/2040-2392-3-9.","journal-title":"Mol Autism"},{"issue":"3","key":"108_CR4","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1038\/sj.mp.4001011","volume":"7","author":"JD Buxbaum","year":"2002","unstructured":"Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH, Fang Y, Song CY, Vitale R: Association between a GABRB3 polymorphism and autism. Mol Psychiatry. 2002, 7 (3): 311-316. 10.1038\/sj.mp.4001011.","journal-title":"Mol Psychiatry"},{"issue":"2","key":"108_CR5","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/s10803-008-0646-7","volume":"39","author":"SH Fatemi","year":"2009","unstructured":"Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD: GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord. 2009, 39 (2): 223-230. 10.1007\/s10803-008-0646-7.","journal-title":"J Autism Dev Disord"},{"key":"108_CR6","doi-asserted-by":"crossref","first-page":"297153","DOI":"10.1155\/2011\/297153","volume":"2011","author":"R Pizzarelli","year":"2011","unstructured":"Pizzarelli R, Cherubini E: Alterations of GABAergic signaling in autism spectrum disorders. Neural Plast. 2011, 2011: 297153-","journal-title":"Neural Plast"},{"issue":"1","key":"108_CR7","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/2040-2392-3-6","volume":"3","author":"T Tavassoli","year":"2012","unstructured":"Tavassoli T, Auyeung B, Murphy LC, Baron-Cohen S, Chakrabarti B: Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children. Mol Autism. 2012, 3 (1): 6-10.1186\/2040-2392-3-6.","journal-title":"Mol Autism"},{"issue":"Pt 18","key":"108_CR8","doi-asserted-by":"publisher","first-page":"3776","DOI":"10.1242\/jcs.03151","volume":"119","author":"YX Yu","year":"2006","unstructured":"Yu YX, Shen L, Xia P, Tang YW, Bao L, Pei G: Syntaxin 1A promotes the endocytic sorting of EAAC1 leading to inhibition of glutamate transport. J Cell Sci. 2006, 119 (Pt 18): 3776-3787.","journal-title":"J Cell Sci"},{"issue":"Pt 6","key":"108_CR9","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1042\/bst0290722","volume":"29","author":"J Haase","year":"2001","unstructured":"Haase J, Killian AM, Magnani F, Williams C: Regulation of the serotonin transporter by interacting proteins. Biochem Soc Trans. 2001, 29 (Pt 6): 722-728.","journal-title":"Biochem Soc Trans"},{"issue":"9","key":"108_CR10","doi-asserted-by":"publisher","first-page":"2044","DOI":"10.1016\/j.neubiorev.2012.07.005","volume":"36","author":"S Coghlan","year":"2012","unstructured":"Coghlan S, Horder J, Inkster B, Mendez MA, Murphy DG, Nutt DJ: GABA system dysfunction in autism and related disorders: from synapse to symptoms. Neurosci Biobehav Rev. 2012, 36 (9): 2044-2055. 10.1016\/j.neubiorev.2012.07.005.","journal-title":"Neurosci Biobehav Rev"},{"issue":"7","key":"108_CR11","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1007\/s10803-011-1389-4","volume":"42","author":"P Malenfant","year":"2012","unstructured":"Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ: Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J Autism Dev Disord. 2012, 42 (7): 1459-1469. 10.1007\/s10803-011-1389-4.","journal-title":"J Autism Dev Disord"},{"issue":"8","key":"108_CR12","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1017\/S1461145708009036","volume":"11","author":"K Nakamura","year":"2008","unstructured":"Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y, Hattori E, Toyota T, Suda S, Takei N, Iwata Y, Suzuki K, Matsuzaki H, Kawai M, Sekine Y, Tsuchiya KJ, Sugihara G, Ouchi Y, Sugiyama T, Yoshikawa T, Mori N: Genetic and expression analyses reveal elevated expression of syntaxin 1A (STX1A) in high functioning autism. Int J Neuropsychopharmacol. 2008, 11 (8): 1073-1084. 10.1017\/S1461145708009036.","journal-title":"Int J Neuropsychopharmacol"},{"issue":"2","key":"108_CR13","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.pnpbp.2010.11.033","volume":"35","author":"K Nakamura","year":"2011","unstructured":"Nakamura K, Iwata Y, Anitha A, Miyachi T, Toyota T, Yamada S, Tsujii M, Tsuchiya KJ, Iwayama Y, Yamada K, Hattori E, Matsuzaki H, Matsumoto K, Suzuki K, Suda S, Takebayashi K, Takei N, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N: Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility. Prog Neuropsychopharmacol Biol Psychiatry. 2011, 35 (2): 454-458. 10.1016\/j.pnpbp.2010.11.033.","journal-title":"Prog Neuropsychopharmacol Biol Psychiatry"},{"issue":"1","key":"108_CR14","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1023\/A:1005653411471","volume":"31","author":"S Baron-Cohen","year":"2001","unstructured":"Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E: The autism-spectrum quotient (AQ): evidence from Asperger syndrome\/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord. 2001, 31 (1): 5-17. 10.1023\/A:1005653411471.","journal-title":"J Autism Dev Disord"},{"issue":"3","key":"108_CR15","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1007\/s10803-005-3300-7","volume":"35","author":"MR Woodbury-Smith","year":"2005","unstructured":"Woodbury-Smith MR, Robinson J, Wheelwright S, Baron-Cohen S: Screening adults for Asperger Syndrome using the AQ: a preliminary study of its diagnostic validity in clinical practice. J Autism Dev Disord. 2005, 35 (3): 331-335. 10.1007\/s10803-005-3300-7.","journal-title":"J Autism Dev Disord"},{"issue":"2","key":"108_CR16","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","volume":"21","author":"JC Barrett","year":"2005","unstructured":"Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005, 21 (2): 263-265. 10.1093\/bioinformatics\/bth457.","journal-title":"Bioinformatics"},{"issue":"3","key":"108_CR17","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/aur.80","volume":"2","author":"B Chakrabarti","year":"2009","unstructured":"Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S: Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res. 2009, 2 (3): 157-177. 10.1002\/aur.80.","journal-title":"Autism Res"},{"issue":"3","key":"108_CR18","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007, 81 (3): 559-575. 10.1086\/519795.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"108_CR19","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1086\/383251","volume":"74","author":"DR Nyholt","year":"2004","unstructured":"Nyholt DR: A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004, 74 (4): 765-769. 10.1086\/383251.","journal-title":"Am J Hum Genet"},{"issue":"Database issue","key":"108_CR20","doi-asserted-by":"publisher","first-page":"D930","DOI":"10.1093\/nar\/gkr917","volume":"40","author":"LD Ward","year":"2012","unstructured":"Ward LD, Kellis M: HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 2012, 40 (Database issue): D930-934.","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"108_CR21","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1093\/bioinformatics\/btn653","volume":"25","author":"C Chelala","year":"2009","unstructured":"Chelala C, Khan A, Lemoine NR: SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Bioinformatics. 2009, 25 (5): 655-661. 10.1093\/bioinformatics\/btn653.","journal-title":"Bioinformatics"},{"issue":"8","key":"108_CR22","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1093\/bioinformatics\/btp103","volume":"25","author":"PH Lee","year":"2009","unstructured":"Lee PH, Shatkay H: An integrative scoring system for ranking SNPs by their potential deleterious effects. Bioinformatics. 2009, 25 (8): 1048-1055. 10.1093\/bioinformatics\/btp103.","journal-title":"Bioinformatics"}],"container-title":["Molecular Autism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/2040-2392-5-14.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T03:06:40Z","timestamp":1630552000000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularautism.biomedcentral.com\/articles\/10.1186\/2040-2392-5-14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,18]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["108"],"URL":"https:\/\/doi.org\/10.1186\/2040-2392-5-14","relation":{},"ISSN":["2040-2392"],"issn-type":[{"value":"2040-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,18]]},"assertion":[{"value":"11 December 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"14"}}