Associated Papers
Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.
Cho CC et al.
Protein Science : a Publication of the Protein Society, 2024
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Berghuis D et al.
Journal of Clinical Immunology, 2024
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D et al.
Communications Biology, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.
Gao L et al.
Nature Communications, 2022
Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.
Bemanian MH et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2021
Structural insights into CpG-specific DNA methylation by human DNA methyltransferase 3B.
Lin CC et al.
Nucleic Acids Research, 2020
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.
Gatto S et al.
Nucleic Acids Research, 2017
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.
Gössling KL et al.
Frontiers in Immunology, 2017
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML et al.
American Journal of Human Genetics, 2016
Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.
Simo-Riudalbas L et al.
Plos One, 2015
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells.
Huang K et al.
Human Molecular Genetics, 2014
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
Velasco G et al.
Orphanet Journal of Rare Diseases, 2014
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.
Yehezkel S et al.
Frontiers in Oncology, 2013
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
Lana E et al.
European Journal of Human Genetics : Ejhg, 2012
Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.
Heyn H et al.
Epigenetics, 2012
ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation.
Moarefi AH et al.
Journal of Molecular Biology, 2011
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
Brun ME et al.
Plos One, 2011
Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome.
Gatto S et al.
Epigenetics, 2010
DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1.
Park J et al.
Journal of Molecular Medicine (berlin, Germany), 2008
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions.
Yehezkel S et al.
Human Molecular Genetics, 2008
Characterization of Dnmt3b:thymine-DNA glycosylase interaction and stimulation of thymine glycosylase-mediated repair by DNA methyltransferase(s) and RNA.
Boland MJ et al.
Journal of Molecular Biology, 2008
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
Jin B et al.
Human Molecular Genetics, 2008
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM et al.
Journal of Medical Genetics, 2008
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.
Xie ZH et al.
Human Molecular Genetics, 2006
Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.
Ueda Y et al.
Development (cambridge, England), 2006
DNMT3B interacts with hSNF2H chromatin remodeling enzyme, HDACs 1 and 2, and components of the histone methylation system.
Geiman TM et al.
Biochemical and Biophysical Research Communications, 2004
Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
Lappalainen I et al.
Protein Engineering, 2002
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.
Tao Q et al.
Human Molecular Genetics, 2002
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
Ehrlich M et al.
Human Molecular Genetics, 2001
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C et al.
Human Mutation, 2000
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
Hansen RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.
Hu H et al.
Autoimmunity, 0