We just published two new preprints— the hard work of Isabella Lin, MSTP student in her PhD 3 year in the lab! These are a long term projects we have exploring the gene regulatory role of ASXL1 in patient-derived cells. here we identify how ASXL1 mutations change the epigenetic landscape and activate Wnt signaling pathtways in differentiated cells. Specifically we highlight both canonical signaling pathways and non-canoncial planar cell polarity pathways are affected by BOS. For the full preprint see here:
Truncating ASXL1 mutations in Bohring-Opitz Syndrome dysregulate canonical and non-canonical Wnt Signaling
We also explored whether the same observations in patient germline syndomes with ASXL1 mutations affect the same pathways in Acute myeloid leukemia with ASXL1 mutations.