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
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S et al.
Journal of Clinical Immunology, 2023
Structural insights into CpG-specific DNA methylation by human DNA methyltransferase 3B.
Lin CC et al.
Nucleic Acids Research, 2020
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
Rechavi E et al.
Journal of Clinical Immunology, 2016
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Chouery E et al.
Clinical Genetics, 2012
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
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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