Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father

The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway

(2020) Zeynep Şıklar et al.   Journal of Clinical Research in Pediatric Endocrinology

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

(2018) Chloe Stutterd et al.   European Journal of Medical Genetics

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

(2018) Małgorzata Rydzanicz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

(2018) Victoria E. R. Parker et al.   GENETICS IN MEDICINE

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

(2017) Sarah M Leiter et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

(2017) Marina Minic et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

(2017) Yasuyo Suzuki et al.   Oncotarget

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

(2015) Nisha Garg et al.   JOURNAL OF PEDIATRICS

The AKT genes and their roles in various disorders

(2013) M. Michael Cohen   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ActivatingAKT2Mutation: Hypoinsulinemic Hypoketotic Hypoglycemia

(2013) Ved Bhushan Arya et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Akt signalling in health and disease

(2011) Ingeborg Hers et al.   CELLULAR SIGNALLING

Cellular and molecular mechanisms of metformin: an overview

(2011) Benoit Viollet et al.   CLINICAL SCIENCE

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE