PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.

Upon PDGFRα signaling in mouse embryonic palatal mesenchyme cells, Srsf3 exhibits differential transcript binding, resulting in retention of the receptor in early endosomes and increased downstream PI3K-mediated Akt signaling.

The USP-50/USP8 protease removes the Rab5 GEF Rabex5 from endosomes while facilitating recruitment of the Rab7 GEF SAND-1/Mon1, promoting endosome maturation.

Deep mutational scanning reveals interactions in the MET kinase domain that are critical for regulation and cancer-related signaling.

Structure-function analysis of the ROR2 cysteine-rich domain reveals a new mechanism of WNT5A reception at the cell surface and provides new insights into the pathogenic mechanisms of Robinow syndrome-driving ROR2 mutations.