Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
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
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
The allosteric mechanism of mTOR activation can inform bitopic inhibitor optimization.
Liu Y et al.
Chemical Science, 2024
Multifaceted role of mTOR (mammalian target of rapamycin) signaling pathway in human health and disease.
Panwar V et al.
Signal Transduction and Targeted Therapy, 2023
Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.
Maia MDS et al.
Molecules (basel, Switzerland), 2023
Clinical Implications of mTOR Expression in Papillary Thyroid Cancer-A Systematic Review.
Derwich A et al.
Cancers, 2023
Novel synthetic lethality drug target in urothelial bladder cancer based on MTAP genomic loss.
Basin MF et al.
Urologic Oncology, 2023
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Smurf1 silencing restores PTEN expression that ameliorates progression of human glioblastoma and sensitizes tumor cells to mTORC1/C2 inhibitor Torin1.
Xia Q et al.
Iscience, 2021
Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.
Ilcus C et al.
Journal of Personalized Medicine, 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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Čerina D et al.
Pathology Oncology Research : Por, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
mTOR: Role in cancer, metastasis and drug resistance.
Murugan AK
Seminars in Cancer Biology, 2019
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
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Razavi P et al.
Nature Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Identification and characterization of two novel oncogenic mTOR mutations.
Murugan AK et al.
Oncogene, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.
Pstrąg N et al.
Molecular Cancer, 2018
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.
Hou H et al.
Oncotarget, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Møller RS et al.
Neurology. Genetics, 2016
Mechanistically distinct cancer-associated mTOR activation clusters predict sensitivity to rapamycin.
Xu J et al.
The Journal of Clinical Investigation, 2016
Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor.
Rodrik-Outmezguine VS et al.
Nature, 2016
Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy.
Ichimura K et al.
Acta Neuropathologica, 2016
Commentary: Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor.
Renna M
Frontiers in Pharmacology, 2016
Absence of somatic mutations of the mTOR gene in differentiated thyroid cancer.
Murugan AK et al.
Meta Gene, 2015
Point mutations of the mTOR-RHEB pathway in renal cell carcinoma.
Ghosh AP et al.
Oncotarget, 2015
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
Kunstman JW et al.
Human Molecular Genetics, 2015
Cross-cancer profiling of molecular alterations within the human autophagy interaction network.
Lebovitz CB et al.
Autophagy, 2015
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M et al.
Nature Medicine, 2014