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Article

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

European journal of human genetics : EJHG - 1 Jan 2005

Luciani Judith J, Depetris Danielle, Missirian Chantal, Mignon-Ravix Cécile, Metzler-Guillemain Catherine, Megarbane André, Moncla Anne, Mattei Marie-Geneviève

Abstract excerpt

The Immunodeficiency, Centromeric instability, and Facial (ICF) syndrome is a rare autosomal recessive disorder that results from mutations in the DNMT3B gene, encoding a DNA-methyltransferase that acts on GC-rich satellite DNAs. This syndrome is characterized by immunodeficiency, facial dysmorphy, mental retardation of variable severity and chromosomal abnormalities that essentially involve juxtacentromeric...

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Identifiers

PMID: 15470359
DOI: 10.1038/sj.ejhg.5201293

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Subcellular distribution of HP1 proteins is altered in ICF syndrome.PMID 15470359Read ↗

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phaseSemantic proximity Read ↗

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ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulationSemantic proximity Read ↗

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.Semantic proximity Read ↗

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.Semantic proximity Read ↗

DNMT3B PWWP mutations cause hypermethylation of heterochromatinSemantic proximity Read ↗

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.Semantic proximity Read ↗

DNMT3B PWWP mutations cause hypermethylation of heterochromatin.Semantic proximity Read ↗

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.Semantic proximity Read ↗

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An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndromeSemantic proximity Read ↗

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