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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 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
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 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
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y et al.
Genes & Genomics, 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
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A et al.
American Journal of Medical Genetics. Part A, 2013
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
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Mastrangelo M et al.
Pediatric Neurology, 2012
Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
Fullston T et al.
Clinical Genetics, 2011
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
Ekşioğlu YZ et al.
Epilepsia, 2011
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
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
Kitamura K et al.
Human Molecular Genetics, 2009
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Poirier K et al.
Epilepsy Research, 2008
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
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Poirier K et al.
Brain Research. Molecular Brain Research, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M et al.
Human Mutation, 2004
Alanine tracts: the expanding story of human illness and trinucleotide repeats.
Brown LY et al.
Trends in Genetics : Tig, 2004
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Current Opinion in Pediatrics, 2003
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G et al.
Neurology, 2003
The Xenopus arx gene is expressed in the developing rostral forebrain.
El-Hodiri HM et al.
Development Genes and Evolution, 2003
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
Turner G et al.
American Journal of Medical Genetics, 2002
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K et al.
Nature Genetics, 2002
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
Scheffer IE et al.
Neurology, 2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
Strømme P et al.
Brain & Development, 2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Bienvenu T et al.
Human Molecular Genetics, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Strømme P et al.
Nature Genetics, 2002