Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.
Helsinki, Finland. In Proc Natl Acad Sci U S A, Feb 2016
In this study, we explored transcriptional differences among leiomyomas harboring different genetic drivers, including high mobility group AT-hook 2 (HMGA2) rearrangements, mediator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and collagen, type IV, alpha 5 and collagen, type IV, alpha 6 (COL4A5-COL4A6) deletions.
Meta-analysis of Complex Diseases at Gene Level by Generalized Functional Linear Models.
Houston, United States. In Genetics, Jan 2016
The GFLMs were applied to analyze genetic data of 22 gene regions of type 2 diabetes data from a meta-analysis of eight European studies, and detected signiﬁcant association for 18 genes (p-values < 3.10x10(-6)) and tentative association for 2 genes (HHEX and HMGA2, p-values around 10(-5)) and no association for 2 genes, while MetaSKAT detected none.
Myeloproliferative neoplasms: Current molecular biology and genetics.
Kermān, Iran. In Crit Rev Oncol Hematol, Dec 2015
Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc finger 1 (IKZF1), DNA methyltransferase 3A (DNMT3A), suppressor of cytokine signaling (SOCS), enhancer of zeste homolog 2 (EZH2), tumor protein p53 (TP53), runt-related transcription factor 1 (RUNX1) and high mobility group AT-hook 2 (HMGA2) have also identified to be involved in MPNs phenotypes.
Characterization of uterine leiomyomas by whole-genome sequencing.
Helsinki, Finland. In N Engl J Med, 2013
The rearrangements created tissue-specific changes consistent with a role in the initiation of leiomyoma, such as translocations of the HMGA2 and RAD51B loci and aberrations at the COL4A5-COL4A6 locus, and occurred in the presence of normal TP53 alleles.