Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/23263
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dc.contributor.authorGecz, J.en
dc.contributor.authorCloosterman, D.en
dc.contributor.authorPartington, M.en
dc.date.issued2006en
dc.identifier.citationCurrent Opinion in Genetics & Development, 2006; 16(3):308-316en
dc.identifier.issn0959-437Xen
dc.identifier.issn1879-0380en
dc.identifier.urihttp://hdl.handle.net/2440/23263-
dc.description.abstractThe Aristaless-related homeobox gene, ARX, is an important transcription factor with a crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have been described in the ARX gene in seven X-chromosome linked disorders involving mental retardation. Recent studies with ARX screening suggest that the gene is mutated in 9.5% of X-linked families with these disorders. Two different polyalanine expansion mutations represent 46% of all currently known mutations and show considerable pleiotropy. The ARX gene is emerging as one of the more important disease-causing genes on the X chromosome and ought to be considered for routine screening. Although the normal Arx protein is known to be a bifunctional transcriptional activator and repressor, the complete biochemical characterization of the normal and mutated ARX awaits further investigation. Pax4 was identified as one of the ARX target genes, and both proteins have crucial functions in endocrine mouse pancreas alpha-cell and beta-cell lineage specification.en
dc.language.isoenen
dc.publisherCurrent Biology Ltden
dc.subjectAnimals; Humans; Homeodomain Proteins; Transcription Factors; Genotype; Phenotype; Mutation; Intellectual Disabilityen
dc.titleARX: a gene for all seasonsen
dc.typeJournal articleen
dc.identifier.rmid0020060737en
dc.identifier.doi10.1016/j.gde.2006.04.003en
dc.identifier.pubid52764-
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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