Myeloproliferative neoplasms: from origins to outcomes

J Nangalia, AR Green - Hematology 2014, the American …, 2017 - ashpublications.org
Substantial progress has been made in our understanding of the pathogenetic basis of
myeloproliferative neoplasms. The discovery of mutations in JAK2 over a decade ago …

The role of ASXL1 in hematopoiesis and myeloid malignancies

S Asada, T Fujino, S Goyama, T Kitamura - Cellular and molecular life …, 2019 - Springer
Recent high-throughput genome-wide sequencing studies have identified recurrent somatic
mutations in myeloid neoplasms. An epigenetic regulator, Additional sex combs-like 1 …

Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies

H Yang, S Kurtenbach, Y Guo, I Lohse… - Blood, The Journal …, 2018 - ashpublications.org
Abstract Additional Sex Combs-Like 1 (ASXL1) is mutated at a high frequency in all forms of
myeloid malignancies associated with poor prognosis. We generated a Vav1 promoter …

Epigenetic regulators as the gatekeepers of hematopoiesis

CP Rodrigues, M Shvedunova, A Akhtar - Trends in Genetics, 2021 - cell.com
Hematopoiesis is the process by which both fetal and adult organisms derive the full
repertoire of blood cells from a single multipotent progenitor cell type, the hematopoietic …

SMC1A regulated by KIAA1429 in m6A-independent manner promotes EMT progress in breast cancer

X Zhang, XY Dai, JY Qian, F Xu, ZW Wang, T Xia… - … Therapy-Nucleic Acids, 2022 - cell.com
As a component of N6-methyladenosine (m6A)" writers," KIAA1429 was reported to promote
breast cancer proliferation and growth in m6A-independent manners. However, the related …

Combined Cohesin–RUNX1 deficiency synergistically perturbs chromatin looping and causes myelodysplastic syndromes

Y Ochi, A Kon, T Sakata, MM Nakagawa, N Nakazawa… - Cancer discovery, 2020 - AACR
STAG2 encodes a cohesin component and is frequently mutated in myeloid neoplasms,
showing highly significant comutation patterns with other drivers, including RUNX1 …

ASXL1/2 mutations and myeloid malignancies

EA Medina, CR Delma, FC Yang - Journal of Hematology & Oncology, 2022 - Springer
Myeloid malignancies develop through the accumulation of genetic and epigenetic
alterations that dysregulate hematopoietic stem cell (HSC) self-renewal, stimulate HSC …

Targeting lysine demethylase 6B ameliorates ASXL1 truncation–mediated myeloid malignancies in preclinical models

G Ge, P Zhang, P Sui, S Chen, H Yang… - The Journal of …, 2024 - Am Soc Clin Investig
ASXL1 mutation frequently occurs in all forms of myeloid malignancies and is associated
with aggressive disease and poor prognosis. ASXL1 recruits Polycomb repressive complex …

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Z Awamleh, E Chater-Diehl, S Choufani… - European Journal of …, 2022 - nature.com
The additional sex combs-like (ASXL) gene family—encoded by ASXL1, ASXL2, and ASXL3—
is crucial for mammalian development. Pathogenic variants in the ASXL gene family are …

Cohesin mutations in acute myeloid leukemia

A Boucher, J Murray, S Rao - Leukemia, 2024 - nature.com
The cohesin complex, encoded by SMC3, SMC1A, RAD21, and STAG2, is a critical
regulator of DNA-looping and gene expression. Over a decade has passed since recurrent …