Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 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
Aberrant HCN4 channel expression: Impacts on neuronal excitability and implications for epilepsy pathogenesis.
Spyrou J et al.
British Journal of Pharmacology, 2025
Unraveling Smooth Muscle-Rich Renal Cell Carcinoma: Clinical, Oncological, Genetic, and Pathological Insights.
Blachman-Braun R et al.
Urology, 2025
Bioinformatics Approach to mTOR Signaling Pathway-Associated Genes and Cancer Etiopathogenesis.
Ozdilli K et al.
Genes, 2025
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.
Bizzotto S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 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
The molecular code of kidney cancer: A path of discovery for gene mutation and precision therapy.
Xie D et al.
Molecular Aspects of Medicine, 2025
mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.
Liu Y et al.
Journal of Chemical Information and Modeling, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.
Evrard YA et al.
Frontiers in Oncology, 2025
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC et al.
Hgg Advances, 2024
The mTOR pathway controls phosphorylation of BRAF at T401.
Christen D et al.
Cell Communication and Signaling : Ccs, 2024
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.
Nakauma-González JA et al.
Cell Genomics, 2024
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Macdonald-Laurs E et al.
Brain : a Journal of Neurology, 2024
Concordance of MTOR Pathway Mutations and the Diagnosis of Renal Low-Grade Oncocytic Tumor (LOT).
Siegmund SE et al.
International Journal of Surgical Pathology, 2024
Demographics and additional haematologic cancers of patients with histiocytic/dendritic cell neoplasms.
Kemps PG et al.
Histopathology, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M et al.
Neurology. Genetics, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L et al.
Epilepsy & Behavior : E&b, 2024
The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Nguyen LH et al.
Elife, 2024
The mTOR pathway genes mTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Nguyen LH et al.
Biorxiv : the Preprint Server for Biology, 2024
mTOR hyperactivity and RICTOR amplification as targets for personalized treatments in malignancies.
Sztankovics D et al.
Pathology Oncology Research : Por, 2024
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E et al.
Neurology. Genetics, 2023
mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
Caliò A et al.
Virchows Archiv : an International Journal of Pathology, 2023
STmut: a framework for visualizing somatic alterations in spatial transcriptomics data of cancer.
Chen L et al.
Genome Biology, 2023
Evaluation of an institutional series of low-grade oncocytic tumor (LOT) of the kidney and review of the mutational landscape of LOT.
Ricci C et al.
Virchows Archiv : an International Journal of Pathology, 2023
TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.
Johnson WT et al.
Blood Advances, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Role of mammalian target of rapamycin (mTOR) signalling in oncogenesis.
El-Tanani M et al.
Life Sciences, 2023
Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.
Kim JH et al.
Annals of Neurology, 2023
Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.
Reijnen C et al.
Cancer Medicine, 2023
Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.
Liu A et al.
Hematology Reports, 2023
mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.
Liu HJ et al.
Nature Communications, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y et al.
Neuropathology and Applied Neurobiology, 2023
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II.
Lee WS et al.
Brain : a Journal of Neurology, 2022
Liquid Biopsy-Derived DNA Sources as Tools for Comprehensive Mutation Profiling in Multiple Myeloma: A Comparative Study.
Heestermans R et al.
Cancers, 2022
Intracellular energy controls dynamics of stress-induced ribonucleoprotein granules.
Wang T et al.
Nature Communications, 2022