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
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Šikrová D et al.
Communications Biology, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
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
The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).
Kellner ES et al.
Journal of Clinical Immunology, 2019
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML et al.
American Journal of Human Genetics, 2016
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 methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
Jin B et al.
Human Molecular Genetics, 2008
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
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
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.
Tao Q et al.
Human Molecular Genetics, 2002
Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases.
Gowher H et al.
The Journal of Biological Chemistry, 2002
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.
Ehrlich M et al.
Human Molecular Genetics, 2001
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
Hansen RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.
Hu H et al.
Autoimmunity, 0