Diverse mechanisms of AKT pathway activation in human malignancy.
Philadelphia, United States. In Curr Cancer Drug Targets, Mar 2013
We also highlight new findings regarding the involvement of activating mutations of AKT1, AKT2, and AKT3 in somatic overgrowth disorders: Proteus syndrome, hypoglycemia with hypertrophy, and hemimegalencephaly, respectively.
An activating mutation of AKT2 and human hypoglycemia.
London, United Kingdom. In Science, 2011
3 unrelated children with unexplained, recurrent and severe fasting hypoglycemia and asymmetrical growth were found to carry the same de novo mutation, p.Glu17Lys, in AKT2, in 2 cases as heterozygotes and in 1 case in mosaic form