We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. (sanger.ac.uk)
We uncovered the cohesion subunit SA1 as a putative synthetic - essential target in cancers carrying inactivating mutations of its paralog, SA2. (jci.org)
Up to 90 % of colorectal tumors contain inactivating mutations in a tumor suppressor gene called adenomatous polyposis coli (Apc). (sciencedaily.com)