Edward E. Morrisey

Human Robinow Syndrome and omodysplasia, characterized by skeletal limb and craniofacial defects, are associated with mutations in the Wnt receptor FZD2. However, as FZD2 can activate both canonical and non-canonical Wnt pathways, its preci…

Transcription factors (TFs) are dosage-sensitive master regulators of gene expression, with haploinsufficiency frequently leading to life-threatening disease. Numerous mechanisms have evolved to tightly regulate the expression and activity …