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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5746
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pubmed:dateCreated |
2005-10-14
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pubmed:abstractText |
Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:AbelsonJesse FJF,
pubmed-author:BaekDanielle YDY,
pubmed-author:DavisNicole RNR,
pubmed-author:DureLeon SLS4th,
pubmed-author:Ercan-SencicekA GulhanAG,
pubmed-author:FarhiAnitaA,
pubmed-author:GilbertDonald LDL,
pubmed-author:GuezDanielle HDH,
pubmed-author:GunelMuratM,
pubmed-author:KurlanRogerR,
pubmed-author:KwanKenneth YKY,
pubmed-author:LeckmanJames FJF,
pubmed-author:LiftonRichard PRP,
pubmed-author:LouviAngelikiA,
pubmed-author:MathewsCarol ACA,
pubmed-author:MorganThomas MTM,
pubmed-author:O'RoakBrian JBJ,
pubmed-author:PaulsDavid LDL,
pubmed-author:RasinMladen-RokoMR,
pubmed-author:SestanNenadN,
pubmed-author:SingerHarvey SHS,
pubmed-author:SpertusJohn AJA,
pubmed-author:StateMatthew WMW,
pubmed-author:StillmanAlthea AAA
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
310
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
317-20
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16224024-3' Untranslated Regions,
pubmed-meshheading:16224024-Adolescent,
pubmed-meshheading:16224024-Animals,
pubmed-meshheading:16224024-Attention Deficit Disorder with Hyperactivity,
pubmed-meshheading:16224024-Brain,
pubmed-meshheading:16224024-Child,
pubmed-meshheading:16224024-Child, Preschool,
pubmed-meshheading:16224024-Chromosome Inversion,
pubmed-meshheading:16224024-Chromosome Mapping,
pubmed-meshheading:16224024-Chromosomes, Human, Pair 13,
pubmed-meshheading:16224024-DNA,
pubmed-meshheading:16224024-DNA Mutational Analysis,
pubmed-meshheading:16224024-Female,
pubmed-meshheading:16224024-Frameshift Mutation,
pubmed-meshheading:16224024-Humans,
pubmed-meshheading:16224024-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16224024-Male,
pubmed-meshheading:16224024-Membrane Proteins,
pubmed-meshheading:16224024-Mice,
pubmed-meshheading:16224024-Mutation,
pubmed-meshheading:16224024-Nerve Tissue Proteins,
pubmed-meshheading:16224024-Pedigree,
pubmed-meshheading:16224024-Sequence Analysis, DNA,
pubmed-meshheading:16224024-Tourette Syndrome
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pubmed:year |
2005
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pubmed:articleTitle |
Sequence variants in SLITRK1 are associated with Tourette's syndrome.
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pubmed:affiliation |
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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