Genetic predisposition syndromes: When should they be considered in the work-up of MDS?
Philadelphia, United States. In Best Pract Res Clin Haematol, 31 Mar 2015
In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes.
Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview.
New York City, United States. In Adv Biol Regul, Dec 2014
The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,BCOR) and DNA repair control p53.
Targeting transcription regulation in cancer with a covalent CDK7 inhibitor.
Boston, United States. In Nature, Aug 2014
Genome-wide analysis in Jurkat T-ALL cells shows that THZ1 disproportionally affects transcription of RUNX1 and suggests that sensitivity to THZ1 may be due to vulnerability conferred by the RUNX1 super-enhancer and the key role of RUNX1 in the core transcriptional regulatory circuitry of these tumour cells.
Reprogramming human endothelial cells to haematopoietic cells requires vascular induction.
New York City, United States. In Nature, Aug 2014
Highly purified non-haemogenic human umbilical vein endothelial cells or adult dermal microvascular endothelial cells were transduced with the transcription factors FOSB, GFI1, RUNX1 and SPI1 (hereafter referred to as FGRS), and then propagated on serum-free instructive vascular niche monolayers to induce outgrowth of haematopoietic colonies containing cells with functional and immunophenotypic features of multipotent progenitor cells (MPPs).