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Article

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

BMC medical genetics - 26 Feb 2008

Lazzaro Maribeth A, Todd Matthew A M, Lavigne Paul, Vallee Dominic, De Maria Adriana, Picketts David J

Abstract excerpt

BACKGROUND: Mutations in genes whose products modify chromatin structure have been recognized as a cause of X-linked mental retardation (XLMR). These genes encode proteins that regulate DNA methylation (MeCP2), modify histones (RSK2 and JARID1C), and remodel nucleosomes through ATP hydrolysis (ATRX). Thus, genes encoding other chromatin modifying proteins should also be considered as disease candidate genes. In...

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Identifiers

PMID: 18302774
DOI: 10.1186/1471-2350-9-11
PMCID: PMC2266716

Genes

ATRX
SMARCA1

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.

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