Associated Papers
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.
Joma R et al.
Oxford Medical Case Reports, 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
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations.
Gao L et al.
Nature Communications, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma.
Fathima T et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2020
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
ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation.
Ehrlich M et al.
Autoimmunity, 2008
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.
Xie ZH et al.
Human Molecular Genetics, 2006
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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