Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43146
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dc.contributor.authorChen, W.en
dc.contributor.authorJensen, L.en
dc.contributor.authorGecz, J.en
dc.contributor.authorFryns, J.en
dc.contributor.authorMoraine, C.en
dc.contributor.authorde Brouwer, A.en
dc.contributor.authorChelly, J.en
dc.contributor.authorMoser, B.en
dc.contributor.authorRopers, H.en
dc.contributor.authorKuss, A.en
dc.date.issued2007en
dc.identifier.citationEuropean Journal of Human Genetics, 2007; 15(3):375-378en
dc.identifier.issn1018-4813en
dc.identifier.issn1476-5438en
dc.identifier.urihttp://hdl.handle.net/2440/43146-
dc.descriptionCopyright © 2007 Nature Publishing Group. All rights reserved.en
dc.description.abstractMiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants with subtle effects on IQ. In an attempt to investigate the potential role of miRNAs in the aetiology of X-linked mental retardation, we have examined all 13 known, brain-expressed X-chromosomal miRNAs in a cohort of 464 patients with non-syndromic X-linked MR and found four nucleotide changes in three different pre-miRNA hairpins. All the observed changes appear to be functionally neutral which, taken together with the rarity of detected nucleotide changes in miRNA genes, may reflect strong selection and thus underline the functional importance of miRNAs.en
dc.description.statementofresponsibilityWei Chen, Lars R Jensen, Jozef Gecz, Jean-Pierre Fryns, Claude Moraine, Arjan de Brouwer, Jamel Chelly, Bettina Moser, H Hilger Ropers and Andreas W Kussen
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.subjectBrain; Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; MicroRNAs; Base Sequence; Point Mutation; Molecular Sequence Dataen
dc.titleMutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardationen
dc.typeJournal articleen
dc.provenancePublished online 20 December 2006.en
dc.identifier.rmid0020070263en
dc.identifier.doi10.1038/sj.ejhg.5201758en
dc.identifier.pubid49182-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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