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Article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Human molecular genetics - 15 Apr 2002

Bienvenu Thierry, Poirier Karine, Friocourt Gaelle, Bahi Nadia, Beaumont Delphine, Fauchereau Fabien, Ben Jeema Lamia, Zemni Ramzi, Vinet Marie-Claude, Francis Fiona, Couvert Philippe, Gomot Marie, Moraine Claude, van Bokhoven Hans, Kalscheuer Vera, Frints Suzanne, Gecz Josef, Ohzaki Kanae, Chaabouni Habiba, Fryns Jean-Pierre, Desportes Vincent, Beldjord Cherif, Chelly Jamel

Abstract excerpt

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts...

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Topics

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Share to Chromosomes, Human, X
Share to Genes, Homeobox

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Intellectual Disability

Share to Mutation, Missense

Share to Peptides

Share to Sequence Analysis, Protein

Share to Telencephalon

Source

Identifiers

PMID: 11971879
DOI: 10.1093/hmg/11.8.981

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11971879-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.PMID 11971879Read ↗

X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.Semantic proximity Read ↗

The role of ARX in cortical development.Semantic proximity Read ↗

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.Semantic proximity Read ↗

The aristaless (Arx) gene: one gene for many "interneuronopathies".Semantic proximity Read ↗

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.Semantic proximity Read ↗

The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR).Semantic proximity Read ↗

ARX: a gene for all seasons.Semantic proximity Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.Semantic proximity Read ↗

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.Semantic proximity Read ↗

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