Associated Papers
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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory.
Poondi Krishnan V et al.
Genome Research, 2023
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
Structural insights into CpG-specific DNA methylation by human DNA methyltransferase 3B.
Lin CC et al.
Nucleic Acids Research, 2020
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
Toubiana S et al.
Human Molecular Genetics, 2018
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.
Gatto S et al.
Nucleic Acids Research, 2017
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
Sterlin D et al.
Journal of Clinical Immunology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
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
Modulation of Dnmt3b function in vitro by interactions with Dnmt3L, Dnmt3a and Dnmt3b splice variants.
Van Emburgh BO et al.
Nucleic Acids Research, 2011
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
Brun ME et al.
Plos One, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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