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Article

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Journal of medical genetics - 1 Oct 2000

Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei M G, Fontes M, Colleaux L

Abstract excerpt

Mutations in the XNP/ATR-X gene, located in Xq13.3, are associated with several X linked mental retardation syndromes, the best known being alpha thalassaemia with mental retardation (ATR-X). The XNP/ATR-X protein belongs to the family of SWI/SNF DNA helicases and contains three C2-C2 type zinc fingers of unknown function. Previous studies have shown that 65% of mutations of XNP have been found within the zinc...

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Identifiers

PMID: 11015451
DOI: 10.1136/jmg.37.10.746
PMCID: PMC1757148

Genes

ATR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.PMID 11015451Read ↗

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.Semantic proximity Read ↗

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.Semantic proximity Read ↗

Mutations in the chromatin-associated protein ATRX.Semantic proximity Read ↗

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.Semantic proximity Read ↗

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

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.Semantic proximity Read ↗

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

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.Semantic proximity Read ↗

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.Semantic proximity Read ↗

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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