Associated Papers
Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.
Velayutham D et al.
Cells, 2025
41294844 (PubMed )
Supplement: cells-14-01791-s001.zip › cells-3910392-supplementary › Table_S2.xlsx › Table_S3
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
40519936 (PubMed )
Supplement: Table1.xlsx › SNV
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
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
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P et al.
Molecular Diagnosis & Therapy, 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
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
Overcoming mTOR resistance mutations with a new-generation mTOR inhibitor.
Rodrik-Outmezguine VS et al.
Nature, 2016
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
Lim JS et al.
Nature Medicine, 2015
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