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Article

Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

Neurogenetics - 1 Feb 2012

Cho Ginam, Nasrallah MacLean P, Lim Youngshin, Golden Jeffrey A

Abstract excerpt

Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy. A genotype-phenotype correlation exists for...

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Identifiers

PMID: 22252899
DOI: 10.1007/s10048-011-0304-7
PMCID: PMC3279587

Genes

ARX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22252899-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.PMID 22252899Read ↗

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.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 ↗

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.Semantic proximity Read ↗

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

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Semantic proximity Read ↗

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

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

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

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Affinity-optimizing enhancer variants disrupt development.Semantic proximity Read ↗

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