Associated Papers
Stability and DNA Methyltransferase Activity of DNMT3A are Maintained by Ubiquitin-Specific Peptidase 11 (USP11) and Sumoylation Countering Degradation.
Yonezawa T et al.
Biorxiv : the Preprint Server for Biology, 2025
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.
German RJ et al.
American Journal of Medical Genetics. Part A, 2025
Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.
Huang YH et al.
Cancer Discovery, 2022
DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.
Christian DL et al.
Cell Reports, 2020
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.
Weinberg DN et al.
Nature, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR et al.
Genome Research, 2019
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Heyn P et al.
Nature Genetics, 2019
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
Liu Z et al.
Molecular Neurobiology, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Tatton-Brown K et al.
Wellcome Open Research, 2018
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Shen W et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Tatton-Brown K et al.
Nature Genetics, 2014
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K et al.
Therapeutic Advances in Rare Disease, 0
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