Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN et al.
Human Mutation, 2020
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L et al.
Human Molecular Genetics, 2019
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
Kwong AK et al.
Brain & Development, 2019
Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.
Mattiske T et al.
Plos One, 2018
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
Shoubridge C et al.
Human Molecular Genetics, 2012
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
Cho G et al.
Neurogenetics, 2012
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
Conti V et al.
American Journal of Medical Genetics. Part A, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.
Shoubridge C et al.
Pathogenetics, 2010
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
Shoubridge C et al.
Genomics, 2007
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C et al.
Bmc Medical Genetics, 2007
ARX: a gene for all seasons.
Gécz J et al.
Current Opinion in Genetics & Development, 2006
The role of ARX in cortical development.
Friocourt G et al.
The European Journal of Neuroscience, 2006
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Bhat SS et al.
American Journal of Medical Genetics. Part A, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M et al.
Journal of Child Neurology, 2005