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
Cabozantinib overcomes ROS1 L2086F NSCLC resistance to lorlatinib: A case report.
Liu X et al.
Medicine, 2025
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.
Bonniaud B et al.
European Journal of Medical Genetics, 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
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.
Zwakenberg S et al.
Molecular Cell, 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
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
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.
Zhang L et al.
Molecular Cytogenetics, 2024
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
Mutational landscape of head and neck cancer and cervical cancer in Chinese and Western population.
Li Q et al.
Head & Neck, 2024
Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.
Maia MDS et al.
Molecules (basel, Switzerland), 2023
mTOR-therapy and targeted treatment opportunities in mTOR-related epilepsies associated with cortical malformations.
Auvin S et al.
Revue Neurologique, 2023
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.
Suthapot P et al.
Cancers, 2023
Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.
Guo Y et al.
Neuroendocrinology, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.
Richter-Pechańska P et al.
Leukemia, 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Shin G et al.
Genome Medicine, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Genetic Characteristics of Colorectal Neuroendocrine Carcinoma: More Similar to Colorectal Adenocarcinoma.
Chen L et al.
Clinical Colorectal Cancer, 2021
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
Potential of circulating tumor DNA as a predictor of therapeutic responses to immune checkpoint blockades in metastatic renal cell carcinoma.
Kim YJ et al.
Scientific Reports, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.
Hadouiri N et al.
European Journal of Medical Genetics, 2020
Impact of concurrent genomic alterations in epidermal growth factor receptor (EGFR)-mutated lung cancer.
Gini B et al.
Journal of Thoracic Disease, 2020
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Garcia CAB et al.
Epilepsia Open, 2020
Mutation Variants and Co-Mutations as Genomic Modifiers of Response to Afatinib in HER2-Mutant Lung Adenocarcinoma.
Fang W et al.
The Oncologist, 2020
Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.
Shin K et al.
Cancers, 2020
mTOR: Role in cancer, metastasis and drug resistance.
Murugan AK
Seminars in Cancer Biology, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Pathological mTOR mutations impact cortical development.
Tarkowski B et al.
Human Molecular Genetics, 2019
A Novel mTORC1/2 Inhibitor (MTI-31) Inhibits Tumor Growth, Epithelial-Mesenchymal Transition, Metastases, and Improves Antitumor Immunity in Preclinical Models of Lung Cancer.
Zhang Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Transcriptional regulation of autophagy-lysosomal function in BRAF-driven melanoma progression and chemoresistance.
Li S et al.
Nature Communications, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019