Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43146
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Type: Journal article
Title: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Author: Chen, W.
Jensen, L.
Gecz, J.
Fryns, J.
Moraine, C.
de Brouwer, A.
Chelly, J.
Moser, B.
Ropers, H.
Kuss, A.
Citation: European Journal of Human Genetics, 2007; 15(3):375-378
Publisher: Nature Publishing Group
Issue Date: 2007
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
Wei Chen, Lars R Jensen, Jozef Gecz, Jean-Pierre Fryns, Claude Moraine, Arjan de Brouwer, Jamel Chelly, Bettina Moser, H Hilger Ropers and Andreas W Kuss
Abstract: MiRNAs 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.
Keywords: Brain; Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; MicroRNAs; Base Sequence; Point Mutation; Molecular Sequence Data
Description: Copyright © 2007 Nature Publishing Group. All rights reserved.
Provenance: Published online 20 December 2006.
RMID: 0020070263
DOI: 10.1038/sj.ejhg.5201758
Appears in Collections:Paediatrics publications

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