{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:56:03Z","timestamp":1791305763652,"version":"4.3.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2008,6,4]],"date-time":"2008-06-04T00:00:00Z","timestamp":1212537600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1038\/ejhg.2008.103","type":"journal-article","created":{"date-parts":[[2008,6,4]],"date-time":"2008-06-04T10:46:09Z","timestamp":1212576369000},"page":"1358-1363","source":"Crossref","is-referenced-by-count":45,"title":["A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features"],"prefix":"10.1038","volume":"16","author":[{"given":"Imen","family":"Rejeb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Saillour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetitia","family":"Castelnau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Julien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Taga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habiba","family":"Chaabouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamia Ben","family":"Jemaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi-Buisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,6,4]]},"reference":[{"key":"BFejhg2008103_CR1","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1136\/jmg.28.6.378","volume":"28","author":"B Kerr","year":"1991","unstructured":"Kerr B, Turner G, Mulley J, Gedeon A, Partington M : Non-specific X linked mental retardation. J Med Genet 1991; 28: 378\u2013382.","journal-title":"J Med Genet"},{"key":"BFejhg2008103_CR2","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/nrg1501","volume":"6","author":"HH Ropers","year":"2005","unstructured":"Ropers HH, Hamel BC : X-linked mental retardation. Nat Rev Genet 2005; 6: 46\u201357.","journal-title":"Nat Rev Genet"},{"key":"BFejhg2008103_CR3","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/sj.ejhg.5201595","volume":"14","author":"J Chelly","year":"2006","unstructured":"Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T : Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006; 14: 701\u2013713.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2008103_CR4","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1002\/humu.9482","volume":"28","author":"AP de Brouwer","year":"2007","unstructured":"de Brouwer AP, Yntema HG, Kleefstra T et al: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007; 28: 207\u2013208.","journal-title":"Hum Mutat"},{"key":"BFejhg2008103_CR5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/1675","volume":"20","author":"KM Allen","year":"1998","unstructured":"Allen KM, Gleeson JG, Bagrodia S et al: PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998; 20: 25\u201330.","journal-title":"Nat Genet"},{"key":"BFejhg2008103_CR6","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/1096-8628(20000814)93:4<294::AID-AJMG8>3.0.CO;2-F","volume":"93","author":"T Bienvenu","year":"2000","unstructured":"Bienvenu T, des Portes V, McDonell N et al: Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet 2000; 93: 294\u2013298.","journal-title":"Am J Med Genet"},{"key":"BFejhg2008103_CR7","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1002\/ajmg.a.20131","volume":"120","author":"AK Gedeon","year":"2003","unstructured":"Gedeon AK, Nelson J, Gecz J, Mulley JC : X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. Am J Med Genet A 2003; 120: 509\u2013517.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2008103_CR8","doi-asserted-by":"publisher","first-page":"2406","DOI":"10.1002\/ajmg.a.31956","volume":"143","author":"M Peippo","year":"2007","unstructured":"Peippo M, Koivisto AM, Sarkamo T et al: PAK3 related mental disability: further characterization of the phenotype. Am J Med Genet A 2007; 143: 2406\u20132416.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2008103_CR9","doi-asserted-by":"publisher","first-page":"6641","DOI":"10.1523\/JNEUROSCI.0028-05.2005","volume":"25","author":"J Meng","year":"2005","unstructured":"Meng J, Meng Y, Hanna A, Janus C, Jia Z : Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. J Neurosci 2005; 25: 6641\u20136650.","journal-title":"J Neurosci"},{"key":"BFejhg2008103_CR10","doi-asserted-by":"publisher","first-page":"4328","DOI":"10.1093\/emboj\/17.15.4328","volume":"17","author":"A Obermeier","year":"1998","unstructured":"Obermeier A, Ahmed S, Manser E, Yen SC, Hall C, Lim L : PAK promotes morphological changes by acting upstream of Rac. EMBO J 1998; 17: 4328\u20134339.","journal-title":"EMBO J"},{"key":"BFejhg2008103_CR11","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<324::AID-AJMG14>3.0.CO;2-V","volume":"72","author":"V des Portes","year":"1997","unstructured":"des Portes V, Soufir N, Carrie A et al: Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. Am J Med Genet 1997; 72: 324\u2013328.","journal-title":"Am J Med Genet"},{"key":"BFejhg2008103_CR12","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/S0092-8674(00)80542-5","volume":"96","author":"MW Hentze","year":"1999","unstructured":"Hentze MW, Kulozik AE : A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999; 96: 307\u2013310.","journal-title":"Cell"},{"key":"BFejhg2008103_CR13","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.1242\/jcs.115.15.3033","volume":"115","author":"E Wagner","year":"2002","unstructured":"Wagner E, Lykke-Andersen J : mRNA surveillance: the perfect persist. J Cell Sci 2002; 115: 3033\u20133038.","journal-title":"J Cell Sci"},{"key":"BFejhg2008103_CR14","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1038\/ng1264","volume":"35","author":"VM Kalscheuer","year":"2003","unstructured":"Kalscheuer VM, Freude K, Musante L et al: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet 2003; 35: 313\u2013315.","journal-title":"Nat Genet"},{"key":"BFejhg2008103_CR15","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1111\/j.1399-0004.2004.00308.x","volume":"66","author":"T Kleefstra","year":"2004","unstructured":"Kleefstra T, Franken CE, Arens YH et al: Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet 2004; 66: 318\u2013326.","journal-title":"Clin Genet"},{"key":"BFejhg2008103_CR16","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ajmg.1320300127","volume":"30","author":"MW Partington","year":"1988","unstructured":"Partington MW, Mulley JC, Sutherland GR, Hockey A, Thode A, Turner G : X-linked mental retardation with dystonic movements of the hands. Am J Med Genet 1988; 30: 251\u2013262.","journal-title":"Am J Med Genet"},{"key":"BFejhg2008103_CR17","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1002\/ajmg.10628","volume":"112","author":"SG Frints","year":"2002","unstructured":"Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP : Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am J Med Genet 2002; 112: 427\u2013428.","journal-title":"Am J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008103","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:51:13Z","timestamp":1684417873000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2008103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,4]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["BFejhg2008103"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.103","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,4]]}}}