Associated Papers
Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.
Ricketts CJ et al.
Human Molecular Genetics, 2025
Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.
Takamatsu S et al.
Scientific Reports, 2025
High-grade endometrioid carcinomas with pilomatrix-like features lacking CTNNB1 Mutations: Clinicopathologic characteristics and novel molecular events.
Qin L et al.
Human Pathology, 2025
Identify the origin of de novo variants in TSC patients by ddPCR.
Ni K et al.
Acta Epileptologica, 2025
Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex.
Specchio N et al.
Ebiomedicine, 2025
Tuberous Sclerosis Complex: A Case Series from a Romanian Genetics Center and a Review of the Literature.
Jurca AA et al.
Journal of Clinical Medicine, 2025
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.
Schultz KAP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.
Nguyen AV et al.
Molecular Biology Reports, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Pancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.
Nakamura N et al.
Surgical Case Reports, 2025
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.
Man A et al.
Pediatric Neurology, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Extraneuraxial pancreatic hemangioblastoma in a patient with tuberous sclerosis.
Perez RL et al.
Japanese Journal of Clinical Oncology, 2024
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.
Mekahli D et al.
Nature Reviews. Nephrology, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.
Garcia ABM et al.
Genetics and Molecular Biology, 2024
KRAS Mutations Are Associated with Shortened Survival in Patients with Epithelioid Malignant Pleural Mesothelioma.
Vannucchi M et al.
Cancers, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.
Nabavi Nouri M et al.
Pediatric Neurology, 2022
A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.
Han B et al.
Diagnostic Pathology, 2021
Comparison of Resistance Spectra after First and Second Line Osimertinib Treatment Detected by Liquid Biopsy.
Jóri B et al.
Cancers, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
Farach LS et al.
Pediatric Neurology, 2020
Genetics of tuberous sclerosis complex: an update.
Marom D
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
Case Report: A Unique Case of Pediatric Central Nervous System Embryonal Tumor Harboring the CIC-LEUTX Fusion, Germline NBN Variant and Somatic TSC2 Mutation: Expanding the Spectrum of CIC-Rearranged Neoplasia.
Hu W et al.
Frontiers in Oncology, 2020
A Renal Cell Carcinoma with Biallelic Somatic TSC2 Mutation: Clinical Study and Literature Review.
Pang J et al.
Urology, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.
Ye Y et al.
Scientific Reports, 2019
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T et al.
Annals of Clinical and Translational Neurology, 2019
[Tuberous sclerosis complex presenting with a single focal cortical dysplasia on magnetic resonance imaging].
Lin SF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Genetic Evaluation of Common Neurocutaneous Syndromes.
Gürsoy S et al.
Pediatric Neurology, 2018
Exome scale map of genetic alterations promoting metastasis in colorectal cancer.
Goryca K et al.
Bmc Genetics, 2018
Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
The classification of pediatric and young adult renal cell carcinomas registered on the children's oncology group (COG) protocol AREN03B2 after focused genetic testing.
Cajaiba MM et al.
Cancer, 2018
Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.
Bah I et al.
The Journal of Pathology. Clinical Research, 2018
Mutation Profiling of Key Cancer Genes in Primary Breast Cancers and Their Distant Metastases.
Schrijver WAME et al.
Cancer Research, 2018
Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature.
Mortaji P et al.
Familial Cancer, 2018
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
Fox J et al.
American Journal of Medical Genetics. Part A, 2017
TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy.
García-Aguilar A et al.
Biochimica Et Biophysica Acta, 2016
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.
Curatolo P et al.
Seminars in Pediatric Neurology, 2015