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1. Full Text Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis
by Ramesh, Vijaya and Han, Sangyeul and Shilyansky, Carrie and Ehninger, Dan and Silva, Alcino J and Kwiatkowski, David J and Zhou, Yu and Li, Weidong
Nature Medicine, ISSN 1078-8956, 08/2008, Volume 14, Issue 8, pp. 843 - 848
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with... 
MEDICINE, RESEARCH & EXPERIMENTAL | COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRAGILE-X | TSC1 | TRANSLATION | IDENTIFICATION | SYNAPTIC PLASTICITY | RAT MODEL | CELL BIOLOGY | HIPPOCAMPUS | MEMORY | COGNITIVE DEFICITS | Protein Kinases - metabolism | Signal Transduction | Mice, Inbred C57BL | Male | Cognition Disorders - genetics | Sirolimus - pharmacology | Tuberous Sclerosis - genetics | Behavior, Animal | Learning | Hippocampus - metabolism | Tumor Suppressor Proteins - physiology | Animals | Tumor Suppressor Proteins - genetics | Female | Heterozygote | Mice | TOR Serine-Threonine Kinases | Medical research | Neurology | Genetic disorders | Cognition & reasoning | Rodents | Memory | Index Medicus
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2. Full Text Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent
by Andrey Parkhitko and Faina Myachina and Tasha A. Morrison and Khadijah M. Hindi and Neil Auricchio and Magdalena Karbowniczek and J. Julia Wu and Toren Finkel and David J. Kwiatkowski and Jane J. Yu and Elizabeth Petri Henske
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2011, Volume 108, Issue 30, pp. 12455 - 12460
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome characterized by benign tumors in multiple organs, including the brain and kidney.... 
Cell growth | Kidneys | Cell death | Cell lines | Tuberous sclerosis | Giant cells | Lesions | Heterologous transplantation | Tumors | Cancer | Therapy | Cell survival | Metabolism | Chloroquine | ACTIVATION | cell survival | therapy | MULTIDISCIPLINARY SCIENCES | MTOR PATHWAY | TSC2 | CELL-GROWTH | MODEL | CANCER | P62 | chloroquine | GENE | ANGIOMYOLIPOMA | TUMOR-SUPPRESSOR | metabolism | Microtubule-Associated Proteins - genetics | Sequestosome-1 Protein | Multiprotein Complexes | Cell Survival - genetics | Autophagy - physiology | Mechanistic Target of Rapamycin Complex 1 | Tuberous Sclerosis - pathology | Heat-Shock Proteins - genetics | Genes, p53 | Apoptosis Regulatory Proteins - deficiency | Tumor Suppressor Proteins - deficiency | Tumor Suppressor Proteins - genetics | Apoptosis Regulatory Proteins - genetics | Autophagy - genetics | Microtubule-Associated Proteins - deficiency | Cell Survival - physiology | Beclin-1 | Heat-Shock Proteins - metabolism | Mice, Inbred C57BL | Mice, SCID | Mice, Knockout | Tuberous Sclerosis - genetics | Proteins - genetics | Animals | Proteins - metabolism | Autophagy-Related Protein 5 | Tuberous Sclerosis - metabolism | Mice, Nude | Adaptor Proteins, Signal Transducing - genetics | Mice | TOR Serine-Threonine Kinases | Adaptor Proteins, Signal Transducing - metabolism | Autophagy (Cytology) | Physiological aspects | Development and progression | Genetic aspects | Research | Carcinogenesis | Genetic disorders | Pathogenesis | Autophagy | Rodents | Medical treatment | Index Medicus | Biological Sciences
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3. Full Text Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex
by Liang, Ning and Zhang, Chi and Dill, Patricia and Panasyuk, Ganna and Pion, Delphine and Koka, Vonda and Gallazzini, Morgan and Olson, Eric N and Lam, Hilaire and Henske, Elizabeth P and Dong, Zheng and Apte, Udayan and Pallet, Nicolas and Johnson, Randy L and Terzi, Fabiola and Kwiatkowski, David J and Scoazec, Jean-Yves and Martignoni, Guido and Pende, Mario
Journal of Experimental Medicine, ISSN 0022-1007, 2014, Volume 211, Issue 11, pp. 2249 - 2263
Genetic studies have shown that the tuberous sclerosis complex (TSC) 1-TSC2-mammalian target of Rapamycin (mTOR) and the Hippo-Yes-associated protein 1 (YAP)... 
MEDICINE, RESEARCH & EXPERIMENTAL | ORGAN SIZE | CELLS | GROWTH-CONTROL | LYMPHANGIOLEIOMYOMATOSIS | HIPPO SIGNALING PATHWAY | DISEASE | SIZE-CONTROL | TSC1 | MICE | IMMUNOLOGY | CANCER | Immunohistochemistry | Up-Regulation | Cell Proliferation | Kidney - pathology | TOR Serine-Threonine Kinases - metabolism | Apoptosis - drug effects | Humans | Cell Survival - genetics | Apoptosis - genetics | Phosphoproteins - metabolism | Autophagy - drug effects | Tuberous Sclerosis - pathology | Kidney - metabolism | Tumor Suppressor Proteins - genetics | Verteporfin | Autophagy - genetics | Disease Models, Animal | Cell Survival - drug effects | Tumor Suppressor Proteins - metabolism | Gene Expression Regulation | Phosphoproteins - genetics | Porphyrins - pharmacology | Angiomyolipoma - genetics | Mice, Knockout | Tuberous Sclerosis - genetics | Animals | Signal Transduction - drug effects | Tuberous Sclerosis - metabolism | Adaptor Proteins, Signal Transducing - genetics | Tuberous Sclerosis Complex 1 Protein | Mice | Adaptor Proteins, Signal Transducing - metabolism | Angiomyolipoma - metabolism | Index Medicus | 307
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4. Full Text The genomic landscape of tuberous sclerosis complex
by Martin, Katie R and Zhou, Wanding and Bowman, Megan J and Shih, Juliann and Au, Kit Sing and Dittenhafer-Reed, Kristin E and Sisson, Kellie A and Koeman, Julie and Weisenberger, Daniel J and Cottingham, Sandra L and Deroos, Steven T and Devinsky, Orrin and Winn, Mary E and Cherniack, Andrew D and Shen, Hui and Northrup, Hope and Krueger, Darcy A and Mackeigan, Jeffrey P
Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, pp. 15816 - 15816
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse... 
LYMPHANGIOLEIOMYOMATOSIS | GENOTYPE-PHENOTYPE CORRELATIONS | GIANT-CELL ASTROCYTOMAS | CHROMOSOME 9Q34 | CORTICAL TUBERS | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | TSC1 | IDENTIFICATION | MUTATIONAL ANALYSIS | LESIONS | Tumor Suppressor Proteins - metabolism | Genomics | Humans | Tuberous Sclerosis Complex 1 Protein - genetics | Tuberous Sclerosis Complex 2 Protein - genetics | Tuberous Sclerosis - genetics | Tuberous Sclerosis Complex 1 Protein - metabolism | Tuberous Sclerosis - metabolism | Tumor Suppressor Proteins - genetics | Carcinoma - genetics | Tuberous Sclerosis Complex 2 Protein - metabolism | Carcinoma - metabolism | Mutation | TOR protein | Tuberous sclerosis 2 protein | Brain | Carcinoma | Deactivation | Computational neuroscience | Brain tumors | Benign | Tuberous sclerosis | Hamartin | Inflammation | Inactivation | TSC1 protein | Sclerosis | Heterogeneity | TSC2 protein | Computer applications | Aberration | Lesions | Signatures | Chromosome aberrations | Tumors | Index Medicus
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5. Full Text Cannabidiol as a new treatment for drug‐resistant epilepsy in tuberous sclerosis complex
by Hess, Evan J and Moody, Kirsten A and Geffrey, Alexandra L and Pollack, Sarah F and Skirvin, Lauren A and Bruno, Patricia L and Paolini, Jan L and Thiele, Elizabeth A
Epilepsia, ISSN 0013-9580, 10/2016, Volume 57, Issue 10, pp. 1617 - 1624
Objective: Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder with highly variable expression. The most common neurologic manifestation... 
Cannabidiol | Efficacy | Tolerability | Tuberous sclerosis complex | Seizures | MICE | CANNABINOIDS | CLINICAL NEUROLOGY | Follow-Up Studies | Tuberous Sclerosis - complications | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Male | Treatment Outcome | Mutation - genetics | Drug Resistant Epilepsy - drug therapy | Tuberous Sclerosis - genetics | Young Adult | Drug Resistant Epilepsy - etiology | Adolescent | Adult | Female | Cannabidiol - therapeutic use | Child | Calcium-Binding Proteins - genetics | Drugs | Tuberous sclerosis | Marijuana | Drug resistance | Drug therapy | Epilepsy | Index Medicus
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6. Full Text Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis
by Bateup, Helen S and Johnson, Caroline A and Denefrio, Cassandra L and Saulnier, Jessica L and Kornacker, Karl and Sabatini, Bernardo L
Neuron, ISSN 0896-6273, 05/2013, Volume 78, Issue 3, pp. 510 - 522
Neural circuits are regulated by activity-dependent feedback systems that tightly control network excitability and which are thought to be crucial for proper... 
NEURODEVELOPMENTAL DISORDERS | COMPLEX | AMPA RECEPTORS | AUTISM | INHIBITION | NEURONS | TSC1 | EPILEPSY | TRANSLATION | SUPPRESSION | NEUROSCIENCES | Tumor Suppressor Proteins - metabolism | TOR Serine-Threonine Kinases - metabolism | Synapses - physiology | Mice, Knockout | Tuberous Sclerosis - genetics | Hippocampus - metabolism | Animals | TOR Serine-Threonine Kinases - genetics | Tuberous Sclerosis - metabolism | Tuberous Sclerosis - physiopathology | Tumor Suppressor Proteins - genetics | Nerve Net - metabolism | Signal Transduction - physiology | Mice | Hippocampus - physiopathology | Nerve Net - physiopathology | Disease Models, Animal | Tuberous sclerosis | Deregulation | Models | Neural networks | Epilepsy | Proteins | Autism | Cell growth | Hypotheses | Neurons | Rodents | Index Medicus | Animal models
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7. Full Text Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
by Zeng, Ling-Hui and Xu, Lin and Gutmann, David H and Wong, Michael
Annals of Neurology, ISSN 0364-5134, 04/2008, Volume 63, Issue 4, pp. 444 - 453
Objective: Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy. TSC gene inactivation leads to hyperactivation of the... 
MAMMALIAN TARGET | MURINE MODEL | RENAL ANGIOMYOLIPOMA | SIGNALING PATHWAY | TSC1 | PROLIFERATION | CELL-GROWTH | SYNAPTIC PLASTICITY | NEUROSCIENCES | MTOR | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | Epilepsy - prevention & control | Sirolimus - therapeutic use | Tuberous Sclerosis - complications | Epilepsy - etiology | Mice, Knockout | Tuberous Sclerosis - genetics | Tumor Suppressor Proteins - physiology | Animals | Tuberous Sclerosis - drug therapy | Tumor Suppressor Proteins - deficiency | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Mice | Disease Models, Animal | Index Medicus
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8. Full Text Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
by Bissler, John J and McCormack, Francis X and Young, Lisa R and Elwing, Jean M and Chuck, Gail and Leonard, Jennifer M and Schmithorst, Vincent J and Laor, Tal and Brody, Alan S and Bean, Judy and Salisbury, Shelia and Franz, David N
The New England Journal of Medicine, ISSN 0028-4793, 01/2008, Volume 358, Issue 2, pp. 140 - 151
In this open-label trial, patients with tuberous sclerosis or lymphangioleiomyomatosis — conditions with constitutive activation of signaling by the mammalian... 
RAPAMYCIN | TARGET | MEDICINE, GENERAL & INTERNAL | THERAPY | PATHWAY | DISEASE | LIVER-TRANSPLANT | TUMOR VOLUMETRY | CERVICAL-CANCER | RENAL-TRANSPLANT RECIPIENTS | Protein Kinases - metabolism | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Lymphangioleiomyomatosis - physiopathology | Middle Aged | Liver Diseases - pathology | Lung Neoplasms - pathology | Male | Lung - diagnostic imaging | Lung Neoplasms - physiopathology | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - pathology | Adult | Angiomyolipoma - etiology | Female | Sirolimus - adverse effects | Sirolimus - therapeutic use | Kidney Diseases - pathology | Angiomyolipoma - pathology | Lung - physiopathology | Lung Neoplasms - complications | Tuberous Sclerosis - genetics | Radiography | Magnetic Resonance Imaging | Lymphangioleiomyomatosis - complications | Protein Kinase Inhibitors - therapeutic use | Brain - pathology | Immunosuppressive Agents - adverse effects | TOR Serine-Threonine Kinases | Respiratory Function Tests | Drug therapy | Genetic aspects | Sclerosis | Proteins | Medical research | Mutation | Drug dosages | Index Medicus | Abridged Index Medicus
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9. Full Text Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study
by Franz, David Neal, Dr Prof and Belousova, Elena, Prof and Sparagana, Steven, MD and Bebin, E Martina, MD and Frost, Michael, MD and Kuperman, Rachel, MD and Witt, Olaf, Prof and Kohrman, Michael H, Prof and Flamini, J Robert, MD and Wu, Joyce Y, MD and Curatolo, Paolo, Prof and de Vries, Petrus J, Prof and Berkowitz, Noah, MD and Anak, Oezlem, MD and Niolat, Julie, MSc and Jozwiak, Sergiusz, Prof
Lancet Oncology, The, ISSN 1470-2045, 2014, Volume 15, Issue 13, pp. 1513 - 1520
Summary Background In the EXIST-1 trial, initiated on Aug 10, 2009, more than 35% of patients with subependymal giant cell astrocytoma (SEGA) associated with... 
Hematology, Oncology and Palliative Medicine | REGRESSION | RAPAMYCIN | MULTICENTER | MANAGEMENT | EFFICACY | ONCOLOGY | RECOMMENDATIONS | CONSENSUS CONFERENCE | EPILEPSY | DIAGNOSTIC-CRITERIA | SIROLIMUS | Astrocytoma - genetics | Sirolimus - analogs & derivatives | Sirolimus - therapeutic use | Prognosis | Prospective Studies | Double-Blind Method | Follow-Up Studies | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Male | Mutation - genetics | Tuberous Sclerosis - genetics | Astrocytoma - complications | Young Adult | Tuberous Sclerosis - drug therapy | Tumor Suppressor Proteins - genetics | Astrocytoma - drug therapy | Adult | Female | Everolimus | Tuberous sclerosis | Care and treatment | Angiogenesis inhibitors | Epilepsy | Children's hospitals | Analysis | Index Medicus
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10. Full Text Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
by Tsai, Peter T and Hull, Court and Chu, Yunxiang and Greene-Colozzi, Emily and Sadowski, Abbey R and Leech, Jarrett M and Steinberg, Jason and Crawley, Jacqueline N and Regehr, Wade G and Sahin, Mustafa
Nature, ISSN 0028-0836, 08/2012, Volume 488, Issue 7413, pp. 647 - 651
Autism spectrum disorders (ASDs) are highly prevalent neurodevelopmental disorders(1), but the underlying pathogenesis remains poorly understood. Recent... 
SURVIVAL | MTORC1 | TUBEROUS SCLEROSIS COMPLEX | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | ULTRASONIC VOCALIZATIONS | DISORDERS | BRAIN | CHILDREN | Autistic Disorder - pathology | Autistic Disorder - physiopathology | TOR Serine-Threonine Kinases - metabolism | Tuberous Sclerosis - complications | Cell Count | Cerebellum - drug effects | TOR Serine-Threonine Kinases - antagonists & inhibitors | Synapses - metabolism | Tumor Suppressor Proteins - deficiency | Tumor Suppressor Proteins - genetics | Behavior, Animal - drug effects | Vocalization, Animal - drug effects | Purkinje Cells - drug effects | Autistic Disorder - genetics | Grooming - physiology | Tumor Suppressor Proteins - metabolism | Purkinje Cells - metabolism | Maze Learning - physiology | Mice, Inbred C57BL | Grooming - drug effects | Vocalization, Animal - physiology | Cerebellum - physiopathology | Maze Learning - drug effects | Mutation - genetics | Sirolimus - pharmacology | Cerebellum - pathology | Tuberous Sclerosis - genetics | Cell Shape - drug effects | Rotarod Performance Test | Animals | Heterozygote | Mice | Mice, Inbred BALB C | Autistic Disorder - complications | Autism | Complications and side effects | Purkinje cells | Tuberous sclerosis | Physiological aspects | Research | Risk factors | Studies | Proteins | Pathogenesis | Social interaction | Rodents | Ataxia | Behavior | Animal cognition | Index Medicus
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11. Full Text Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex
by Zeng, Ling-Hui and Rensing, Nicholas R and Zhang, Bo and Gutmann, David H and Gambello, Michael J and Wong, Michael
Human Molecular Genetics, ISSN 0964-6906, 02/2011, Volume 20, Issue 3, pp. 445 - 454
Tuberous Sclerosis Complex (TSC) is an autosomal dominant, multi-system disorder, typically involving severe neurological symptoms, such as epilepsy, cognitive... 
MAMMALIAN TARGET | SURVIVAL | HYPERTROPHY | PRODUCTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TUMOR-SUPPRESSOR PROTEINS | GENETICS & HEREDITY | MUTATIONS | BRAIN PATHOLOGY | ASTROCYTES | EXPRESSION | MTOR | Tumor Suppressor Proteins - metabolism | TOR Serine-Threonine Kinases - metabolism | Gene Silencing | Epilepsy - metabolism | Mice, Transgenic | Blotting, Western | Mice, Knockout | Tuberous Sclerosis - genetics | Phenotype | Animals | TOR Serine-Threonine Kinases - genetics | Tuberous Sclerosis - metabolism | Tumor Suppressor Proteins - genetics | Fluorescent Antibody Technique | Epilepsy - genetics | Mice | Mutation | Disease Models, Animal | Index Medicus
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