Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/23263
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Type: Journal article
Title: ARX: a gene for all seasons
Author: Gecz, J.
Cloosterman, D.
Partington, M.
Citation: Current Opinion in Genetics and Development, 2006; 16(3):308-316
Publisher: Current Biology Ltd
Issue Date: 2006
ISSN: 0959-437X
1879-0380
Abstract: The 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.
Keywords: Animals
Humans
Homeodomain Proteins
Transcription Factors
Genotype
Phenotype
Mutation
Intellectual Disability
DOI: 10.1016/j.gde.2006.04.003
Appears in Collections:Aurora harvest 6
Paediatrics publications

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