Disease: Tuberous sclerosis- type 1
- <em>Tsc2</em> mutation induces renal tubular cell nonautonomous disease
- <em>Tsc2</em> shapes olfactory bulb granule cell molecular and morphological characteristics
- A novel role of CRTC2 in promoting nonalcoholic fatty liver disease
- A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex
- A systems biology approach to define mechanisms, phenotypes, and drivers in PanNETs with a personalized perspective
- Aberrant DJ-1 expression underlies L-type calcium channel hypoactivity in dendrites in tuberous sclerosis complex and Alzheimer's disease
- Absence of TSC1 Accelerates CD8<sup>+</sup> T cell-mediated Acute Cardiac Allograft Rejection
- Amplification of human interneuron progenitors promotes brain tumors and neurological defects
- Angiomyolipoma of the kidney-Clinicopathological analysis of 52 cases
- Angiotensin II receptor type 1 blockade regulates Klotho expression to induce TSC2-deficient cell death
- Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions
- Asthma reduces glioma formation by T cell decorin-mediated inhibition of microglia
- Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison
- Blocking the Farnesyl Pocket of PDEδ Reduces Rheb-Dependent mTORC1 Activation and Survival of <em>Tsc2-Null</em> Cells
- Cancer Predisposition Syndromes in Neuro-oncology
- Cannabidiol (Epidyolex) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb
- Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model
- Cortical wiring by synapse type-specific control of local protein synthesis
- Cross talk between LAM cells and fibroblasts may influence alveolar epithelial cell behavior in lymphangioleiomyomatosis
- Cutaneous Angiofibroma
- Cutaneous Angiofibroma
- Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models
- Developmental effects of constitutive mTORC1 hyperactivity and environmental enrichment on structural synaptic plasticity and behaviour in a rat model of autism spectrum disorder
- Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review
- Early Post-Natal Immune Activation Leads to Object Memory Deficits in Female <em>Tsc2</em><sup>+/-</sup> Mice: The Importance of Including Both Sexes in Neuroscience Research
- Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
- Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism
- Enhanced Sestrin expression through Tanshinone 2A treatment improves PI3K-dependent inhibition of glioma growth
- Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex
- Epilepsy severity mediates association between mutation type and ADHD symptoms in tuberous sclerosis complex
- Epilepsy surgery in children with tuberous sclerosis
- Epilepsy Surgery in Young Children With Tuberous Sclerosis Complex: A Novel Hybrid Multimodal Surgical Approach
- Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex
- Familial Neoplastic Syndromes
- Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line
- Genetic disorders and insulinoma/glucagonoma
- Genetics of Pancreatic Neuroendocrine Tumors
- High-purified cannabidiol efficacy and safety in a cohort of adult patients with various types of drug-resistant epilepsies
- Hypomelanosis of Ito
- Hypomelanosis of Ito
- Identification of serum and glucocorticoid-regulated kinase 1 as a regulator of signal transducer and activator of transcription 3 signaling
- Indications for genetic study in gastro-entero-pancreatic and thoracic neuroendocrine tumors
- Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review
- Jagged-1 is induced by mTOR inhibitors in renal cancer cells through an Akt/ALK5/Smad4-dependent mechanism
- Kidney collecting duct cell type composition is regulated by Notch signaling via modulation of mTORC1
- LncRNA PVT-1 promotes osteosarcoma cancer stem-like properties through direct interaction with TRIM28 and TSC2 ubiquitination
- Long-term dietary DHA intervention prevents telomere attrition and lipid disturbance in telomerase-deficient male mice
- Loss of <em>TSC1/TSC2</em> sensitizes immune checkpoint blockade in non-small cell lung cancer
- Low-frequency electroacupuncture improves disordered hepatic energy metabolism in insulin-resistant Zucker diabetic fatty rats via the AMPK/mTORC1/p70S6K signaling pathway
- Malignant perivascular epithelioid cell tumor (PEComa) of the uterus
- Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis
- Modeling tuberous sclerosis complex with human induced pluripotent stem cells
- Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal
- Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes
- Neurocutaneous Disorders in Pregnancy
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development
- Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies
- Neurofibromatosis Type 1
- Neurofibromatosis Type 1
- Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
- Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis
- Orbital Perivascular Epithelioid Cell Tumor in a Case of Tuberous Sclerosis
- Overview of therapeutic options for epilepsy
- Pancreatic neuroendocrine neoplasms: Updates on genomic changes in inherited tumour syndromes and sporadic tumours based on WHO classification
- Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review
- Perinatal adversities in tuberous sclerosis complex: Determinants and neurodevelopmental outcomes
- Periplaneta americana extract CⅡ-3 induces senescence of leukemia K562 cells via SIRT1/mTOR signaling pathway
- Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
- Persistent mTORC1 activation due to loss of liver tuberous sclerosis complex 1 promotes liver injury in alcoholic hepatitis
- Pharmacological diversity amongst approved and emerging antiseizure medications for the treatment of developmental and epileptic encephalopathies
- Phosphorylation of PBX2, a novel downstream target of mTORC1, is determined by GSK3 and PP1
- Prdx5 in the Regulation of Tuberous Sclerosis Complex Mutation-Induced Signaling Mechanisms
- Prophylactic Steroids for Preventing Postembolization Syndrome after Transcatheter Arterial Embolization of Renal Angiomyolipoma: A Comparative Study
- Proteomic analysis of murine Tsc1-deficient neural stem progenitor cells
- Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study
- Reprogramming tumor-associated macrophages to outcompete endovascular endothelial progenitor cells and suppress tumor neoangiogenesis
- Role of Type I Interferon Signaling and Microglia in the Abnormal Long-term Potentiation and Object Place Recognition Deficits of Male Mice With a Mutation of the Tuberous Sclerosis 2 Gene
- Second-line cannabis therapy in patients with epilepsy
- SEGA-like circumscribed astrocytoma in a non-NF1 patient, harboring molecular profile of GBM. A case report
- Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation
- Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature
- Subependymal Giant Cell Astrocytoma Non-Associated With Tuberous Sclerosis Complex and Expression of OCT-4 and INI-1: A Case Report
- Syndroms associated with benign skin tumors
- The therapeutic potential of purified cannabidiol
- Transition readiness in adolescents and young adults with chronic genetic skin conditions
- Transitional Care in Pediatric Brain Tumor Patients: A Systematic Literature Review
- Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex
- Tuberous Sclerosis Associated With Aortic Stenosis and Endocarditis: A Case Report
- Tuberous sclerosis complex
- Tuberous Sclerosis Complex 1 Deficiency in Macrophages Promotes Unclassical Inflammatory Response to Lipopolysaccharide <em>In Vitro</em> and Dextran Sodium Sulfate-Induced Colitis in Mice
- Tuberous Sclerosis Complex 1 Deficiency in Macrophages Promotes Unclassical Inflammatory Response to Lipopolysaccharide In Vitro and Dextran Sodium Sulfate-Induced Colitis in Mice
- Tuberous Sclerosis, Type II Diabetes Mellitus and the PI3K/AKT/mTOR Signaling Pathways-Case Report and Literature Review
- Tumor Syndromes: Neurosurgical Evaluation and Management
- Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes