Associated Papers
Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.
Raski CR et al.
American Journal of Medical Genetics. Part A, 2025
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma.
Ishikawa R et al.
Neoplasia (new York, N.y.), 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
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.
Mantoan Ritter L et al.
Orphanet Journal of Rare Diseases, 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
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
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
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V et al.
Clinical Neurophysiology Practice, 2024
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
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.
Liu HJ et al.
Nature Communications, 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
Activating mTOR Mutations Are Detrimental in Nutrient-Poor Conditions.
Bielska AA et al.
Cancer Research, 2022
PTEN loss confers sensitivity to rapalogs in clear cell renal cell carcinoma.
Liu XL et al.
Acta Pharmacologica Sinica, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Tumour mutational burden predicts resistance to EGFR/BRAF blockade in BRAF-mutated microsatellite stable metastatic colorectal cancer.
Randon G et al.
European Journal of Cancer (oxford, England : 1990), 2022
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL et al.
American Journal of Medical Genetics. Part A, 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
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
The Landscape of Actionable Genomic Alterations by Next-Generation Sequencing in Tumor Tissue Versus Circulating Tumor DNA in Chinese Patients With Non-Small Cell Lung Cancer.
Cai J et al.
Frontiers in Oncology, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Thioredoxin-1 maintains mitochondrial function via mechanistic target of rapamycin signalling in the heart.
Oka SI et al.
Cardiovascular Research, 2020
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.
Elizondo-Plazas A et al.
Neurology. Genetics, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Genomic case report of a low grade bladder tumor metastasis to lung.
Van Every MJ et al.
Bmc Urology, 2018
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
Concurrent Alterations in EGFR-Mutant Lung Cancers Associated with Resistance to EGFR Kinase Inhibitors and Characterization of MTOR as a Mediator of Resistance.
Yu HA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM et al.
Cell Reports, 2017
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin.
Xu J et al.
The Journal of Clinical Investigation, 2016