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
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E et al.
Molecular Genetics & Genomic Medicine, 2024
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Field MJ et al.
Human Mutation, 2021
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN et al.
Human Mutation, 2020
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
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Mattiske T et al.
Human Mutation, 2017
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
Hunter JM et al.
American Journal of Medical Genetics. Part A, 2015
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
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
Friocourt G et al.
Frontiers in Cellular Neuroscience, 2010
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Marsh E et al.
Brain : a Journal of Neurology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C et al.
Bmc Medical Genetics, 2007
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
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M et al.
Human Mutation, 2004