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Article

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain.

Gene - 4 Feb 2004

Garrick David, Samara Vassiliki, McDowell Tarra L, Smith Andrew J H, Dobbie Lorraine, Higgs Douglas R, Gibbons Richard J

Abstract excerpt

Mutations in the ATRX gene cause a severe X-linked mental retardation syndrome that is frequently associated with alpha thalassemia (ATR-X syndrome). The previously characterized ATRX protein (approximately 280 kDa) contains both a Plant homeodomain (PHD)-like zinc finger motif as well as an ATPa...

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Source

Identifiers

PMID: 14729260
DOI: 10.1016/j.gene.2003.10.026

Genes

ATRX
ATR
PML

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14729260-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain.PMID 14729260Read ↗

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A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.Semantic proximity Read ↗

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Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.Semantic proximity Read ↗

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