DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

ICF syndrome is a rare autosomal recessive disorder that is characterized by Immunodeficiency, Centromeric instability, and Facial anomalies. In all, 60% of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In ICF cells, constitutive...

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Veröffentlicht in:	European journal of human genetics : EJHG 2012-10, Vol.20 (10), p.1044-1050
Hauptverfasser:	LANA, Erica, MEGARBANE, Andre, TOURRIERE, Helene, SARDA, Pierre, LEFRANC, Gerard, CLAUSTRES, Mireille, DE SARIO, Albertina
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cancer Cell Line Chromatin Chromosomes Deoxyribonucleic acid DNA DNA (Cytosine-5-)-Methyltransferases - genetics DNA biosynthesis DNA methylation DNA methyltransferase DNA Methyltransferase 3B Epigenetics Face - abnormalities Fundamental and applied biological sciences. Psychology Gene Expression Genetics of eukaryotes. Biological and molecular evolution Genomes Genomics Hereditary diseases Heterochromatin Heterochromatin - genetics Humans ICF syndrome Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunodeficiency Immunologic Deficiency Syndromes - genetics Immunopathology Life Sciences Medical genetics Medical sciences Metaphase Methylation Molecular and cellular biology Mutation Mutation, Missense Neurogenesis Patients Primary Immunodeficiency Diseases Replication Replication forks S Phase - genetics Satellites
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