Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2.
Sayol-Torres L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 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
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat-modified starch.
Parker M et al.
Clinical Case Reports, 2024
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A et al.
Orphanet Journal of Rare Diseases, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
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
Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.
Affinito O et al.
Cancer Cell International, 2022
AKT mutant allele-specific activation dictates pharmacologic sensitivities.
Shrestha Bhattarai T et al.
Nature Communications, 2022
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.
Maines E et al.
Hormones (athens, Greece), 2021
Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.
Moore A et al.
Medicine, 2021
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.
Kushi R et al.
Diabetology International, 2021
The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 2020
Acquired Secondary RAS Mutation in BRAFV600E-Mutated Thyroid Cancer Patients Treated with BRAF Inhibitors.
Cabanillas ME et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Modeling the Effects of Severe Metabolic Disease by Genome Editing of hPSC-Derived Endothelial Cells Reveals an Inflammatory Phenotype.
Roudnicky F et al.
International Journal of Molecular Sciences, 2019
Mouse Models as a Tool for Understanding Progression in BrafV600E-Driven Thyroid Cancers.
Landa I et al.
Endocrinology and Metabolism (seoul, Korea), 2019
AKT isoform-specific expression and activation across cancer lineages.
Wang J et al.
Bmc Cancer, 2018
Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers.
Pozdeyev N et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
Scarless Genome Editing of Human Pluripotent Stem Cells via Transient Puromycin Selection.
Steyer B et al.
Stem Cell Reports, 2018
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
Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population.
López-Cortés A et al.
Biomed Research International, 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
Prediction of a highly deleterious mutation E17K in AKT-1 gene: An in silico approach.
Khan I et al.
Biochemistry and Biophysics Reports, 2017
Molecular profiling of metastatic colorectal tumors using next-generation sequencing: a single-institution experience.
Gong J et al.
Oncotarget, 2017
Distinct Akt phosphorylation states are required for insulin regulated Glut4 and Glut1-mediated glucose uptake.
Beg M et al.
Elife, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2017
Glutathione biosynthesis is a metabolic vulnerability in PI(3)K/Akt-driven breast cancer.
Lien EC et al.
Nature Cell Biology, 2016
MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.
Garg N et al.
The Journal of Pediatrics, 2015
Computational identification of significant missense mutations in AKT1 gene.
Shanthi V et al.
Cell Biochemistry and Biophysics, 2014
Genetic profiling to determine risk of relapse-free survival in high-risk localized prostate cancer.
Barnett CM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.
Arya VB et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Somatic mutation profiling and associations with prognosis and trastuzumab benefit in early breast cancer.
Loi S et al.
Journal of the National Cancer Institute, 2013
A TALEN genome-editing system for generating human stem cell-based disease models.
Ding Q et al.
Cell Stem Cell, 2013
Multiple genetic alterations within the PI3K pathway are responsible for AKT activation in patients with ovarian carcinoma.
De Marco C et al.
Plos One, 2013
Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.
Pommier SJ et al.
Annals of Surgical Oncology, 2012