Associated Papers
Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
Tao X et al.
Histopathology, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
The somatic mutation landscape of normal gastric epithelium.
Coorens THH et al.
Nature, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Morphological diversity in SDH-deficient renal carcinomas: a three-case exploration of variant features and dedifferentiation.
Sánta F et al.
Virchows Archiv : an International Journal of Pathology, 2024
mTOR variants activation discovers PI3K-like cryptic pocket, expanding allosteric, mutant-selective inhibitor designs.
Liu Y et al.
Biorxiv : the Preprint Server for Biology, 2024
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC.
Tosello V et al.
Scientific Reports, 2024
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
Parathyroid cancer with MTOR gene mutation: Case report and review of the literature.
Stark J et al.
Annales D'endocrinologie, 2023
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
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y et al.
Neuropathology and Applied Neurobiology, 2023
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity.
Williamson SR et al.
Histopathology, 2023
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY et al.
The American Journal of Surgical Pathology, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
Morini A et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Integrative genomic analysis of drug resistance in MET exon 14 skipping lung cancer using patient-derived xenograft models.
Xu Y et al.
Frontiers in Oncology, 2022
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.
Zhan Q et al.
Ebiomedicine, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.
Roldan-Romero JM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
mTOR-mediated cancer drug resistance suppresses autophagy and generates a druggable metabolic vulnerability.
Gremke N et al.
Nature Communications, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Bertucci F et al.
Molecular Oncology, 2020
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Garcia CAB et al.
Epilepsia Open, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
mTOR: Role in cancer, metastasis and drug resistance.
Murugan AK
Seminars in Cancer Biology, 2019
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
Liu Q et al.
Cancer Biology & Therapy, 2017
Control of leucine-dependent mTORC1 pathway through chemical intervention of leucyl-tRNA synthetase and RagD interaction.
Kim JH et al.
Nature Communications, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.
Grabiner BC et al.
Cancer Discovery, 2014