Melanoma in a patient with DNMT3A overgrowth syndrome

DY Chen, LA Sutton… - Molecular …, 2023 - molecularcasestudies.cshlp.org
Alterations in epigenetic regulators are increasingly recognized as early events in
tumorigenesis; thus, patients with acquired or inherited variants in epigenetic regulators may …

Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype

DY Chen, IM Ferguson, KA Braun… - Proceedings of the …, 2021 - National Acad Sciences
DNA hypomethylation is a feature of epidermal cells from aged and sun-exposed skin, but
the mechanisms responsible for this methylation loss are not known. Dnmt3a is the …

Haploinsufficiency for DNA methyltransferase 3A predisposes hematopoietic cells to myeloid malignancies

CB Cole, DA Russler-Germain, S Ketkar… - The Journal of …, 2017 - Am Soc Clin Investig
The gene that encodes de novo DNA methyltransferase 3A (DNMT3A) is frequently mutated
in acute myeloid leukemia genomes. Point mutations at position R882 have been shown to …

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

K Tatton-Brown, S Seal, E Ruark, J Harmer… - Nature …, 2014 - nature.com
Overgrowth disorders are a heterogeneous group of conditions characterized by increased
growth parameters and other variable clinical features such as intellectual disability and …

Decreases in different Dnmt3b activities drive distinct development of hematologic malignancies in mice

K Lopusna, P Nowialis, J Opavska, A Abraham… - Journal of Biological …, 2021 - ASBMB
DNA methylation regulates gene transcription and is involved in various physiological
processes in mammals, including development and hematopoiesis. It is catalyzed by DNA …

DNMT3B7, a truncated DNMT3B isoform expressed in human tumors, disrupts embryonic development and accelerates lymphomagenesis

MY Shah, A Vasanthakumar, NY Barnes, ME Figueroa… - Cancer research, 2010 - AACR
Epigenetic changes are among the most common alterations observed in cancer cells, yet
the mechanism by which cancer cells acquire and maintain abnormal DNA methylation …

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

AM Smith, TA LaValle, M Shinawi… - Nature …, 2021 - nature.com
Germline pathogenic variants in DNMT3A were recently described in patients with
overgrowth, obesity, behavioral, and learning difficulties (D NMT3A O vergrowth S …

Methylation-independent repression of Dnmt3b contributes to oncogenic activity of Dnmt3a in mouse MYC-induced T-cell lymphomagenesis

SL Haney, RA Hlady, J Opavska, D Klinkebiel… - Oncogene, 2015 - nature.com
Abstract DNA methyltransferase 3A (DNMT3A) catalyzes cytosine methylation of mammalian
genomic DNA. In addition to myeloid malignancies, mutations in DNMT3A have been …

[HTML][HTML] DNMT3A R882H overexpression leads to hematopoietic and skin alterations in transgenic mice

AM Verdoni, CB Cole, JM Klco, TJ Ley - Blood, 2013 - Elsevier
Somatic mutations in the DNA methyltransferase gene, DNMT3A, have been identified in>
30% of de novo AML cases with a normal karyotype, and in> 10% of patients with MDS. To …

Dnmt3b is a haploinsufficient tumor suppressor gene in Myc-induced lymphomagenesis

A Vasanthakumar, JB Lepore… - Blood, The Journal …, 2013 - ashpublications.org
The drivers of abnormal DNA methylation in human cancers include widespread aberrant
splicing of the DNMT3B gene, producing abnormal transcripts that encode truncated …