| pubmed-article:14659996 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C0004352 | lld:lifeskim |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C1522424 | lld:lifeskim |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C0175694 | lld:lifeskim |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C0205161 | lld:lifeskim |
| pubmed-article:14659996 | lifeskim:mentions | umls-concept:C1527148 | lld:lifeskim |
| pubmed-article:14659996 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:14659996 | pubmed:dateCreated | 2003-12-8 | lld:pubmed |
| pubmed-article:14659996 | pubmed:abstractText | The Smith-Lemli-Opitz syndrome (SLOS) is a malformation/mental retardation syndrome resulting from an inborn error in 3beta-hydroxysteroid Delta7-reductase (DHCR7), the terminal enzyme required for cholesterol biosynthesis. Using a targeting strategy designed to virtually eliminate Dhcr7 activity, we have created a SLOS mouse model that exhibits commissural deficiencies, hippocampal abnormalities, and hypermorphic development of serotonin (5-HT) neurons. The latter is of particular interest with respect to current evidence that serotonin plays a significant role in autism spectrum disorders and the recent clinical observation that 50% of SLOS patients present with autistic behavior. Immunohistochemical analyses have revealed a 306% increase in the area of 5-HT immunoreactivity (5-HT IR) in the hindbrains of mutant (Dhcr7-/-) mice as compared to age-matched wild type animals. Amount of 5-HT IR was measured as total area of IR per histological section. Additionally, a regional increase as high as 15-fold was observed for the most lateral sagittal hindbrain sections. In Dhcr7-/- mice, an expansion of 5-HT IR into the ventricular zone and floor plate region was observed. In addition, the rostral and caudal raphe groups exhibited a radial expansion in Dhcr7-/- mice, with 5-HT IR cells present in locations not seen in wild type mice. This increase in 5-HT IR appears to represent an increase in total number of 5-HT neurons and fibers. These observations may help explain the behavioral phenotype seen in SLOS, and provide clues for future therapeutic interventions that utilize pharmacological modulation of the serotonergic system. | lld:pubmed |
| pubmed-article:14659996 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14659996 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14659996 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:14659996 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14659996 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14659996 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14659996 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14659996 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14659996 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:14659996 | pubmed:issn | 0736-5748 | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:TintG SGS | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:LauderJ MJM | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:HillerSS | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:SulikK KKK | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:DehartD BDB | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:KluckmanKK | lld:pubmed |
| pubmed-article:14659996 | pubmed:author | pubmed-author:Waage-BaudetH... | lld:pubmed |
| pubmed-article:14659996 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14659996 | pubmed:volume | 21 | lld:pubmed |
| pubmed-article:14659996 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14659996 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14659996 | pubmed:pagination | 451-9 | lld:pubmed |
| pubmed-article:14659996 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
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| pubmed-article:14659996 | pubmed:meshHeading | pubmed-meshheading:14659996... | lld:pubmed |
| pubmed-article:14659996 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:14659996 | pubmed:articleTitle | Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. | lld:pubmed |
| pubmed-article:14659996 | pubmed:affiliation | Department of Cell and Developmental Biology, The University of North Carolina, Chapel Hill, NC 27599-7178, USA. | lld:pubmed |
| pubmed-article:14659996 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14659996 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:14659996 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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