Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational evaluation of AKT2 mutations reveals R274H and R467W as potential drivers of protein instability and inhibitor resistance in cancer therapy.
Runa SA et al.
Plos One, 2025
Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.
Hurst ZA et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
In Silico Investigation of AKT2 Gene and Protein Abnormalities Reveals Potential Association with Insulin Resistance and Type 2 Diabetes.
Elangeeb ME et al.
Current Issues in Molecular Biology, 2023
Not Enough Fat: Mouse Models of Inherited Lipodystrophy.
Le Lay S et al.
Frontiers in Endocrinology, 2022
A functional SNP in miR-625-5p binding site of AKT2 3'UTR is associated with noise-induced hearing loss susceptibility in the Chinese population.
Miao L et al.
Environmental Science and Pollution Research International, 2021
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.
Kushi R et al.
Diabetology International, 2021
A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study.
Latva-Rasku A et al.
Diabetes, 2018
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.
Minic M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Manning A et al.
Diabetes, 2017
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Reinier F et al.
Metabolism: Clinical and Experimental, 2015
MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.
Garg N et al.
The Journal of Pediatrics, 2015
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.
Arya VB et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Candidate tumor suppressor and pVHL partner Jade-1 binds and inhibits AKT in renal cell carcinoma.
Zeng L et al.
Cancer Research, 2013
Central players in inherited lipodystrophies.
Jeninga EH et al.
Trends in Endocrinology and Metabolism: Tem, 2010
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
Semple RK et al.
The Journal of Clinical Investigation, 2009
Hoofbeats, zebras, and insights into insulin resistance.
Hegele RA et al.
The Journal of Clinical Investigation, 2009
IGF signaling defects as causes of growth failure and IUGR.
Klammt J et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.
Tan K et al.
Diabetes, 2007
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
George S et al.
Science (new York, N.y.), 2004