Associated Papers
Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.
Qiu JJ et al.
World Journal of Pediatrics : Wjp, 2024
Using human disease mutations to understand de novo DNA methyltransferase function.
Rolls W et al.
Biochemical Society Transactions, 2024
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
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
Mutations in DNA methyltransferase (DNMT3A) observed in acute myeloid leukemia patients disrupt processive methylation.
Holz-Schietinger C et al.
The Journal of Biological Chemistry, 2012
Modulation of Dnmt3b function in vitro by interactions with Dnmt3L, Dnmt3a and Dnmt3b splice variants.
Van Emburgh BO et al.
Nucleic Acids Research, 2011
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
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
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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