{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T16:42:30Z","timestamp":1732034550262},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e Tecnologia"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:p>In this work we explored the role of the 3\u2019UTR of the <jats:italic>MECP2<\/jats:italic> gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3\u2019UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM\u2010S technique) the <jats:italic>MECP2<\/jats:italic> 3\u2019UTR of a total of 66 affected females were studied. Five 3\u2019UTR variants in the <jats:italic>MECP2<\/jats:italic> were found (c.1461+9G&gt;A, c.1461+98insA, c.2595G&gt;A, c.9961C&gt;G and c.9964delC) in our group of patients. None of the variants found is located in putative protein\u2010binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.<\/jats:p>","DOI":"10.1155\/2008\/738401","type":"journal-article","created":{"date-parts":[[2013,6,13]],"date-time":"2013-06-13T11:36:39Z","timestamp":1371123399000},"page":"319-324","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Analysis of Highly Conserved Regions of the 3\u2019UTR of <i>MECP2<\/i> Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation"],"prefix":"10.1155","volume":"24","author":[{"given":"M\u00f3nica","family":"Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Temudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiomar","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Pedro","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinong","family":"Fen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia","family":"Maciel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,7,23]]},"container-title":["Disease Markers"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/dm\/2008\/738401.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2008\/738401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T09:56:50Z","timestamp":1723111010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2008\/738401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1155\/2008\/738401"],"URL":"https:\/\/doi.org\/10.1155\/2008\/738401","archive":["Portico"],"relation":{},"ISSN":["0278-0240","1875-8630"],"issn-type":[{"type":"print","value":"0278-0240"},{"type":"electronic","value":"1875-8630"}],"subject":[],"published":{"date-parts":[[2008,1]]},"assertion":[{"value":"2008-07-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}