Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
Germline pathogenic variants in DNMT3A were recently described in patients with
overgrowth, obesity, behavioral, and learning difficulties (D NMT3A O vergrowth S …
overgrowth, obesity, behavioral, and learning difficulties (D NMT3A O vergrowth S …
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 …
growth parameters and other variable clinical features such as intellectual disability and …
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
MA Ferris, AM Smith, SE Heath… - Blood, The Journal …, 2022 - ashpublications.org
DNMT3A Overgrowth Syndrome (DOS, also known as Tatton-Brown Rahman
Syndrome/TBRS) is one of several overgrowth syndromes with complex phenotypes caused …
Syndrome/TBRS) is one of several overgrowth syndromes with complex phenotypes caused …
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation
A Mayle, L Yang, B Rodriguez, T Zhou… - Blood, The Journal …, 2015 - ashpublications.org
Abstract DNA methyltransferase 3A (DNMT3A) is mutated in hematologic malignancies
affecting myeloid, mixed, and lymphoid lineages, and these mutations are associated with …
affecting myeloid, mixed, and lymphoid lineages, and these mutations are associated with …
Acute myeloid leukemia‐associated DNMT3A p.Arg882His mutation in a patient with Tatton‐Brown–Rahman overgrowth syndrome as a constitutional mutation
R Kosaki, H Terashima, M Kubota… - American Journal of …, 2017 - Wiley Online Library
DNA methylation plays a critical role in both embryonic development and tumorigenesis and
is mediated through various DNA methyltransferases. Constitutional mutations in the de …
is mediated through various DNA methyltransferases. Constitutional mutations in the de …
Loss of Dnmt3a immortalizes hematopoietic stem cells in vivo
Somatic mutations in DNMT3A are recurrent events across a range of blood cancers.
Dnmt3a loss of function in hematopoietic stem cells (HSCs) skews divisions toward self …
Dnmt3a loss of function in hematopoietic stem cells (HSCs) skews divisions toward self …
DNMT3A mutations in acute myeloid leukemia
MY Shah, JD Licht - Nature genetics, 2011 - nature.com
New studies reveal that 20% of individuals with acute myeloid leukemia harbor somatic
mutations in DNMT3A (encoding DNA methyltransferase 3A). Although these leukemias …
mutations in DNMT3A (encoding DNA methyltransferase 3A). Although these leukemias …
A Model System for Studying the DNMT3A Hotspot Mutation (DNMT3AR882) Demonstrates a Causal Relationship between Its Dominant-Negative Effect and …
Mutation of DNA methyltransferase 3A at arginine 882 (DNMT3AR882mut) is prevalent in
hematologic cancers and disorders. Recently, DNMT3AR882mut has been shown to have …
hematologic cancers and disorders. Recently, DNMT3AR882mut has been shown to have …
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes
Alterations in DNA methylation have been implicated in the pathogenesis of myelodysplastic
syndromes (MDS), although the underlying mechanism remains largely unknown …
syndromes (MDS), although the underlying mechanism remains largely unknown …
DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells
JY Lim, SH Duttke, TS Baker, J Lee… - Journal of Experimental …, 2021 - rupress.org
DNMT3A encodes an enzyme that carries out de novo DNA methylation, which is essential
for the acquisition of cellular identity and specialized functions during cellular differentiation …
for the acquisition of cellular identity and specialized functions during cellular differentiation …