Associated Papers
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies.
Bakhuizen JJ et al.
European Journal of Cancer (oxford, England : 1990), 2025
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
Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.
Gao L et al.
Nature Communications, 2022
Structural insights into CpG-specific DNA methylation by human DNA methyltransferase 3B.
Lin CC et al.
Nucleic Acids Research, 2020
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
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
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
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.
Xie ZH et al.
Human Molecular Genetics, 2006
Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
Lappalainen I et al.
Protein Engineering, 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 gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.
Hu H et al.
Autoimmunity, 0
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