tuberous sclerosis

Summary

Summary: An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS, INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011)

Top Publications

  1. doi Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis
    Darcy A Krueger
    Department of Pediatrics, Tuberous Sclerosis Clinic, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    N Engl J Med 363:1801-11. 2010
  2. ncbi Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis
    Li Ma
    Cancer Biology and Genetics Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cell 121:179-93. 2005
  3. pmc Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    Dan Ehninger
    Department of Neurobiology, Brain Research Institute, University of California, Los Angeles, 695 Charles E Young Drive South, Los Angeles, California 90095, USA
    Nat Med 14:843-8. 2008
  4. ncbi TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
    Ken Inoki
    Department of Biological Chemistry, University of Michigan Medical School, 1301 Catherine Road, Ann Arbor, MI 48109, USA
    Nat Cell Biol 4:648-57. 2002
  5. pmc Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
    Ling Hui Zeng
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:444-53. 2008
  6. pmc Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 28:5422-32. 2008
  7. pmc Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
    Dan Ehninger
    DZNE, German Center for Neurodegenerative Diseases, Ludwig Erhard Allee 2, 53175 Bonn, Germany
    Trends Mol Med 17:78-87. 2011
  8. pmc Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling
    Andrew R Tee
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 99:13571-6. 2002
  9. ncbi A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Neurosci 27:5546-58. 2007
  10. ncbi Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
    David Neal Franz
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Ann Neurol 59:490-8. 2006

Research Grants

  1. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2009
  2. Understanding the Cognitive Impact of Early Life Epilepsy
    Frances Jensen; Fiscal Year: 2009
  3. The NKCC1 inhibitor bumetanide as a novel therapy in TSC
    Frances E Jensen; Fiscal Year: 2012
  4. Modifier Genes of SP-C Induced ILD
    DANIEL PROWS; Fiscal Year: 2004
  5. RENAL CYST PATHOGENESIS IN TSC, VHL, AND ADPKD
    ELIZABETH HENSKE; Fiscal Year: 1999
  6. GENETIC STUDY OF AUTISTIC CHILDREN AND ADOLESCENTS
    Edwin Cook; Fiscal Year: 1999
  7. MOLECULAR GENETICS OF INHERITED NEUROLOGIC DISEASES
    Xandra Breakefield; Fiscal Year: 1990
  8. DYSTONIA AND TUBEROUS SCLEROSIS--LOCALIZATION ON 9Q32-34
    ELIZABETH HENSKE; Fiscal Year: 1991
  9. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2003
  10. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2000

Detail Information

Publications285 found, 100 shown here

  1. doi Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis
    Darcy A Krueger
    Department of Pediatrics, Tuberous Sclerosis Clinic, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    N Engl J Med 363:1801-11. 2010
    ..resection is the standard treatment for subependymal giant-cell astrocytomas in patients with the tuberous sclerosis complex...
  2. ncbi Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis
    Li Ma
    Cancer Biology and Genetics Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Cell 121:179-93. 2005
    b>Tuberous sclerosis (TSC) is a tumor syndrome caused by mutation in TSC1 or TSC2 genes. TSC tumorigenesis is not always accompanied by loss of heterozygosity (LOH)...
  3. pmc Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    Dan Ehninger
    Department of Neurobiology, Brain Research Institute, University of California, Los Angeles, 695 Charles E Young Drive South, Los Angeles, California 90095, USA
    Nat Med 14:843-8. 2008
    b>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 mental retardation, autism and epilepsy...
  4. ncbi TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
    Ken Inoki
    Department of Biological Chemistry, University of Michigan Medical School, 1301 Catherine Road, Ann Arbor, MI 48109, USA
    Nat Cell Biol 4:648-57. 2002
    b>Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by the formation of hamartomas in a wide range of human tissues...
  5. pmc Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
    Ling Hui Zeng
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:444-53. 2008
    b>Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy...
  6. pmc Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 28:5422-32. 2008
    b>Tuberous sclerosis (TSC) is a hamartoma syndrome attributable to mutations in either TSC1 or TSC2 in which brain involvement causes epilepsy, mental retardation, and autism. We have reported recently (Meikle et al...
  7. pmc Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
    Dan Ehninger
    DZNE, German Center for Neurodegenerative Diseases, Ludwig Erhard Allee 2, 53175 Bonn, Germany
    Trends Mol Med 17:78-87. 2011
    b>Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20-60% of cases...
  8. pmc Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling
    Andrew R Tee
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 99:13571-6. 2002
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that occurs upon mutation of either the TSC1 or TSC2 genes, which encode the protein products hamartin and tuberin, respectively...
  9. ncbi A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
    Lynsey Meikle
    Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Neurosci 27:5546-58. 2007
    b>Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 in which cerebral cortical tubers and seizures are major clinical issues...
  10. ncbi Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
    David Neal Franz
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
    Ann Neurol 59:490-8. 2006
    b>Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs...
  11. pmc Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    John J Bissler
    Division of Nephrology and Hypertension, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    N Engl J Med 358:140-51. 2008
    Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR)..
  12. pmc The natural history of epilepsy in tuberous sclerosis complex
    Catherine J Chu-Shore
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Epilepsia 51:1236-41. 2010
    Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
  13. doi Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions
    Laura Magri
    Neural Stem Cell Biology Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy
    Cell Stem Cell 9:447-62. 2011
    b>Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by hamartomatous neurological lesions that exhibit abnormal cell proliferation and differentiation...
  14. ncbi The tuberous sclerosis complex
    Peter B Crino
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
    N Engl J Med 355:1345-56. 2006
  15. pmc PEComas: the past, the present and the future
    Guido Martignoni
    Department of Pathology, Universita di Verona, Verona, Italy
    Virchows Arch 452:119-32. 2008
    ..PEComas are related to the genetic alterations of tuberous sclerosis complex (TSC), an autosomal dominant genetic disease due to losses of TSC1 (9q34) or TSC2 (16p13...
  16. ncbi Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway
    Brendan D Manning
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Mol Cell 10:151-62. 2002
    ..This approach identifies the tuberous sclerosis complex-2 gene product, tuberin, as a potential target of Akt/PKB...
  17. ncbi Cognitive prognosis of patients with tuberous sclerosis complex
    Elisabeth B Winterkorn
    Departments of Neurology, Massachusetts General Hospital, Boston, MA, USA
    Neurology 68:62-4. 2007
    To assess cognitive outcome in patients with tuberous sclerosis complex (TSC) and identify predictive risk factors, we reviewed records of 107 patients who underwent comprehensive neuropsychiatric evaluation...
  18. pmc Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex
    Ling Hui Zeng
    Department of Pharmacy, Zhejiang University City College, Hangzhou, Zhejiang 310015, China
    Hum Mol Genet 20:445-54. 2011
    b>Tuberous Sclerosis Complex (TSC) is an autosomal dominant, multi-system disorder, typically involving severe neurological symptoms, such as epilepsy, cognitive deficits and autism...
  19. pmc Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent
    Andrey Parkhitko
    Department of Medicine, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 108:12455-60. 2011
    b>Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome characterized by benign tumors in multiple organs, including the brain and kidney...
  20. doi Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex
    Monique P Curran
    Adis, a Wolters Kluwer Business, Auckland, New Zealand
    Paediatr Drugs 14:51-60. 2012
    ..in the volume of the largest subependymal giant cell astrocytoma (SEGA) in 28 patients aged ≥3 years with tuberous sclerosis complex (TSC) in a phase II trial (C2485)...
  21. pmc The tuberous sclerosis complex
    Ksenia A Orlova
    Departments of Neurology and Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Ann N Y Acad Sci 1184:87-105. 2010
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems...
  22. pmc Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies
    Michael Wong
    Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Epilepsia 51:27-36. 2010
    ..The importance of the mTOR pathway in epileptogenesis is best illustrated by tuberous sclerosis complex (TSC), one of the most common genetic causes of epilepsy...
  23. pmc Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors
    Bryan A Ballif
    Department of Cell Biology and Taplin Biological Mass Spectrometry Facility, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:667-72. 2005
    ..events after phorbol ester stimulation in the ERK/p90 ribosomal S6 kinase-signaling targets, the tuberous sclerosis complex (TSC) tumor suppressors TSC1 and TSC2...
  24. pmc Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism
    David M Young
    Department of Physiology, Howard Hughes Medical Institute, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 107:11074-9. 2010
    b>Tuberous sclerosis (TSC) is an autosomally dominant neurocutaneous disease notable for its high comorbidity with autism in human patients...
  25. pmc Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
    A L Numis
    Department of Neurology, Massachusetts General Hospital, Boston, USA
    Neurology 76:981-7. 2011
    ..of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC).
  26. doi Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association
    Hakan Aydin
    Department of Anatomic Pathology, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, USA
    Am J Surg Pathol 33:289-97. 2009
    The majority of renal angiomyolipoma (AML) is sporadic and occasionally it occurs as part of tuberous sclerosis complex (TSC)...
  27. pmc Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors
    Karin Boer
    Department of Neuro Pathology, Academic Medical Center, Amsterdam, The Netherlands
    Brain Pathol 20:704-19. 2010
    Cortical tubers in patients with tuberous sclerosis complex are associated with disabling neurological manifestations, including intractable epilepsy...
  28. doi Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review
    Lindsay Hallett
    United BioSource Corporation, Lexington, MA, USA
    Curr Med Res Opin 27:1571-83. 2011
    b>Tuberous sclerosis complex (TSC) is a progressive genetic disorder characterized by pervasive benign tumor growth. We sought to assess the current understanding of burden of TSC-related neurological manifestations.
  29. doi The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis
    Gkeok Stzuan Diana Lim
    Department of Pathology, National University Hospital, Singapore
    Int J Gynecol Pathol 30:121-8. 2011
    ..We report a 59-year-old woman with tuberous sclerosis, initially diagnosed with a uterine malignant mixed müllerian tumor, in whom the hysterectomy specimen also ..
  30. pmc Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin
    Itzamarie Chévere-Torres
    Center for Neural Science, New York University, New York, NY 10003, USA
    Neurobiol Dis 45:156-64. 2012
    b>Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of hamartomas in multiple organs...
  31. ncbi Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin
    Elizabeth Kaufman McNamara
    Department of Dermatology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157 1071, USA
    J Dermatolog Treat 23:46-8. 2012
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome manifesting as hamartomatous growths in multiple organs...
  32. ncbi Tuberous sclerosis
    Paolo Curatolo
    Department of Neurosciences, Paediatric Neurology Unit, Tor Vergata University, Rome, Italy
    Lancet 372:657-68. 2008
    b>Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver...
  33. ncbi Dysregulation of the TSC-mTOR pathway in human disease
    Ken Inoki
    Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 37:19-24. 2005
    ..High levels of dysregulated mTOR activity are associated with several hamartoma syndromes, including tuberous sclerosis complex, the PTEN-related hamartoma syndromes and Peutz-Jeghers syndrome...
  34. doi Low-dose rapamycin reduces kidney volume angiomyolipomas and prevents the loss of renal function in a patient with tuberous sclerosis complex
    Ramón Peces
    Servicio de Nefrologia, Hospital Universitario La Paz, Madrid, Spain
    Nephrol Dial Transplant 25:3787-91. 2010
    b>Tuberous sclerosis complex (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in non-malignant tumours of several organs including renal angiomyolipomas (AMLs)...
  35. pmc Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex
    Itzamarie Chévere-Torres
    Center for Neural Science, New York University, New York, NY 10003, USA
    Neurobiol Dis 45:1101-10. 2012
    b>Tuberous sclerosis complex (TSC) and fragile X syndrome (FXS) are caused by mutations in negative regulators of translation. FXS model mice exhibit enhanced metabotropic glutamate receptor-dependent long-term depression (mGluR-LTD)...
  36. doi Cellular localization of metabotropic glutamate receptors in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex
    K Boer
    Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, The Netherlands
    Neuroscience 156:203-15. 2008
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder associated with cortical malformations (cortical tubers) and the development of glial tumors (subependymal giant-cell tumors, SGCTs)...
  37. pmc Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex
    Peter Tsai
    The F M Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
    Curr Opin Neurol 24:106-13. 2011
    ..b>Tuberous sclerosis complex (TSC) is a genetic disease that presents with epilepsy, autism, and intellectual disability...
  38. pmc Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
    June Goto
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 108:E1070-9. 2011
    b>Tuberous sclerosis complex (TSC) is a multiorgan genetic disease in which brain involvement causes epilepsy, intellectual disability, and autism...
  39. doi Tuberous sclerosis complex: tumors and tumorigenesis
    Julita Borkowska
    Department of Child Neurology, Children s Memorial Health Institute, Warsaw, Poland
    Int J Dermatol 50:13-20. 2011
    b>Tuberous sclerosis complex (TSC) is an inherited disorder characterized by hamartomas in different body organs, mainly in the brain, skin, kidney, liver, lung, and heart...
  40. doi The tuberous sclerosis complex: balancing proliferation and survival
    Romana Tomasoni
    Program in Immunology and Bio Immuno gene therapy of Cancer PIBIC, Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Scientific Institute, I 20132 Milan, Italy
    Biochem Soc Trans 39:466-71. 2011
    Mutations in genes encoding either hamartin [TSC1 (tuberous sclerosis complex 1)] or tuberin (TSC2) result in a multisystem disorder characterized by the development of benign tumours and hamartomas in several organs...
  41. pmc Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
    David M Feliciano
    Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06520 8082, USA
    J Clin Invest 121:1596-607. 2011
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in Tsc1 or Tsc2 that lead to mammalian target of rapamycin (mTOR) hyperactivity...
  42. doi Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex
    Sergiusz Jozwiak
    Department of Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
    Eur J Paediatr Neurol 15:424-31. 2011
    Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-resistant epilepsy and mental retardation in more than 80% of patients...
  43. pmc Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
    T Carsillo
    Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia PA 19111, USA
    Proc Natl Acad Sci U S A 97:6085-90. 2000
    ..LAM can occur as an isolated disorder (sporadic LAM) or in association with tuberous sclerosis complex...
  44. pmc Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin
    Seok Hyung Kim
    Vanderbilt University, Department of Biological Sciences, Nashville, TN 37232, USA
    Dis Model Mech 4:255-67. 2011
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by mutations in either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes...
  45. pmc Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers
    Delia M Talos
    Department of Neurology, Children s Hospital, Boston, MA 02115, USA
    Ann Neurol 63:454-65. 2008
    Genetic loss of TSC1/TSC2 function in tuberous sclerosis complex (TSC) results in overactivation of the mammalian target of rapamycin complex 1 pathway, leading to cellular dysplasia...
  46. pmc Comparison of three rapamycin dosing schedules in A/J Tsc2+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors
    Chelsey Woodrum
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Building, Boston, MA, USA
    J Transl Med 8:14. 2010
    b>Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor disorder characterized by the growth of hamartomas in various organs including the kidney, brain, skin, lungs, and heart...
  47. ncbi Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes
    James Brugarolas
    Dana Farber Cancer Institute and Harvard Medical School, Howard Hughes Medical Institute, 44 Binney Street, Mayer 457, Boston, Massachusetts 02115, USA
    Cancer Cell 6:7-10. 2004
    ..Mutations in LKB1 cause Peutz-Jeghers syndrome (PJS), and mutations in either TSC1 or TSC2 cause tuberous sclerosis complex--two syndromes characterized by the development of hamartomas...
  48. ncbi The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis
    G H Xiao
    Divisions of Medical, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    J Biol Chem 272:6097-100. 1997
    The tuberous sclerosis complex 2 (TSC2) is a tumor suppressor gene that plays a causative role in the autosomal dominant syndrome of tuberous sclerosis...
  49. pmc Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis
    Lisa R Young
    Department of Pulmonary, Critical Care, and Sleep Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    Chest 136:926-33. 2009
    Mutations in tuberous sclerosis complex (TSC) genes are associated with dysregulated mammalian target of rapamycin (mTOR)/Akt signaling and unusual neoplasms called perivascular epithelioid cell tumors (PEComas), including angiomyolipomas ..
  50. ncbi Intrafamilial phenotypic variability in tuberous sclerosis complex
    David A Lyczkowski
    Department of Neurology, Massachusetts General Hospital, Boston, USA
    J Child Neurol 22:1348-55. 2007
    Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation...
  51. ncbi Impaired synaptic plasticity in a rat model of tuberous sclerosis
    Christian von der Brelie
    Department of Epileptology, University of Bonn Medical Center, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Eur J Neurosci 23:686-92. 2006
    b>Tuberous sclerosis complex (TSC) is a common hereditary disorder caused by mutations in either the TSC1 or TSC2 genes, and characterized by severe epilepsy, cerebral hamartomas and mental retardation...
  52. doi Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial
    D Mark Davies
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
    Clin Cancer Res 17:4071-81. 2011
    Renal angiomyolipomas are a frequent manifestation of tuberous sclerosis and sporadic lymphangioleiomyomatosis (LAM)...
  53. pmc Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex
    Philippe Major
    Department of Pediatrics, Neurology Service, Centre hospitalier universitaire Sainte Justine, Universite de Montreal, Quebec, Canada
    Aging (Albany NY) 3:189-91. 2011
    Rapamycin inhibits the mTOR (target of rapamycin) pathway and extends lifespan in multiple species. The tuberous sclerosis complex (TSC) protein is a negative regulator of mTOR...
  54. ncbi Identification of S664 TSC2 phosphorylation as a marker for extracellular signal-regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer
    Li Ma
    Cancer Biology and Genetics Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Cancer Res 67:7106-12. 2007
    ..Recently, aberrantly activated Erk was also found in brain lesions associated with tuberous sclerosis (TSC)...
  55. pmc Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome
    Michael N Corradetti
    Life Sciences Institute, Department of Biological Chemistry, and Institute of Gerontology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Genes Dev 18:1533-8. 2004
    b>Tuberous sclerosis complex (TSC) and Peutz-Jeghers syndrome (PJS) are dominantly inherited benign tumor syndromes that share striking histopathological similarities...
  56. ncbi Tuberous sclerosis complex and epilepsy: recent developments and future challenges
    Gregory L Holmes
    Neuroscience Center at Dartmouth, Section of Neurology, Dartmouth Medical School, Hanover, New Hampshire, USA
    Epilepsia 48:617-30. 2007
    b>Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2...
  57. pmc Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex
    Ling Hui Zeng
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Dis 28:184-96. 2007
    Mice with inactivation of the Tuberous sclerosis complex-1 (Tsc1) gene in glia (Tsc1 GFAP CKO mice) have deficient astrocyte glutamate transporters and develop seizures, suggesting that abnormal glutamate homeostasis contributes to ..
  58. pmc Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans
    Stephen C Juvet
    National Jewish Medical and Research Center, 1400 Jackson Street, Denver, CO 80206, USA
    Am J Respir Cell Mol Biol 36:398-408. 2007
    ..The pivotal observation that LAM occurs both spontaneously and as part of the tuberous sclerosis complex (TSC) led to the hypothesis that these disorders share common genetic and pathogenetic mechanisms...
  59. pmc Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
    Sharon W Way
    Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center, Houston, TX 77030, USA
    Hum Mol Genet 18:1252-65. 2009
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant, tumor predisposition disorder characterized by significant neurodevelopmental brain lesions, such as tubers and subependymal nodules...
  60. doi Therapeutic targeting of mTOR in tuberous sclerosis
    Julian R Sampson
    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Biochem Soc Trans 37:259-64. 2009
    ..of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis)...
  61. ncbi Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma
    Nisreen El-Hashemite
    Brigham and Women Hospital, Department of Medicine, Haematology Division, Boston MA 02115, USA
    Lancet 361:1348-9. 2003
    Mutations that inactivate either TSC1 or TSC2 cause tuberous sclerosis. We have used immunoblotting and immunohistochemical analysis to see whether there is phosphorylation of p70 S6 kinase, and the ribosomal S6 protein in angiomyolipomas ..
  62. ncbi Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature
    Stefan Mennel
    Department of Ophthalmology, Philipps University Marburg, Marburg, Germany
    Acta Ophthalmol Scand 85:127-32. 2007
    Retinal hamartoma is a common finding in tuberous sclerosis, but the symptomatic changes of this lesion have rarely been described...
  63. pmc Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion
    David M Feliciano
    Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520 8082, USA
    Hum Mol Genet 21:799-810. 2012
    Neurological symptoms in tuberous sclerosis complex (TSC) and associated brain lesions are thought to arise from abnormal embryonic neurogenesis due to inherited mutations in Tsc1 or Tsc2...
  64. pmc Lymphangioleiomyomatosis: what do we know and what are we looking for?
    S Harari
    Unità Operativa di Pneumologia e Terapia Semi Intensiva Respiratoria Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare Ospedale San Giuseppe, Via San Vittore 12, Milan, Italy
    Eur Respir Rev 20:34-44. 2011
    ..It affects predominantly females and can occur sporadically or in patients with tuberous sclerosis complex...
  65. ncbi Identification of the epileptogenic zone in patients with tuberous sclerosis: concordance of interictal and ictal epileptiform activity
    Astrid van der Heide
    Department of Child Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre, Utrecht, The Netherlands
    Clin Neurophysiol 121:842-7. 2010
    In the majority of patients with tuberous sclerosis complex (TSC) multifocal epileptiform activity is present interictally. Therefore, its value in identifying epilepsy surgery candidates has been doubted...
  66. pmc Targeted treatment trials for tuberous sclerosis and autism: no longer a dream
    Mustafa Sahin
    The FM Kirby Neurobiology Center, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Curr Opin Neurobiol 22:895-901. 2012
    ..b>Tuberous sclerosis complex (TSC) is one such genetic disorder that presents with ASD, epilepsy, and intellectual disability...
  67. doi Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis
    Cristina Cabrera López
    Nephrology Department, Puigvert Foundation, Autonomous University of Barcelona FP UAB Barcelona, Spain
    Nefrologia 31:292-8. 2011
    b>Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas)...
  68. doi An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
    Maya Chopra
    The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children s Hospital, Randwick, Australia
    J Paediatr Child Health 47:711-6. 2011
    This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations ..
  69. pmc From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
    D Ehninger
    Departments of Neurobiology, Psychiatry and Biobehavioral Sciences, Psychology and the Brain Research Institute, UCLA, Los Angeles, CA 90095 1761, USA
    J Intellect Disabil Res 53:838-51. 2009
    b>Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, ..
  70. ncbi Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
    S K Rakowski
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Kidney Int 70:1777-82. 2006
    b>Tuberous sclerosis complex is a genetic disorder characterized by hamartomatous lesions in multiple organs, frequently involving the kidney...
  71. ncbi Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
    Yong Zhang
    Department of Physiology, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Blvd, Dallas, TX 75390 9040, USA
    Nat Cell Biol 5:578-81. 2003
    Mutations in the TSC1 or TSC2 genes cause tuberous sclerosis, a benign tumour syndrome in humans...
  72. pmc Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia
    Delia M Talos
    Department of Neurology, Children s Hospital Boston, MA, USA
    Ann Neurol 71:539-51. 2012
    The most common neurological symptom of tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) is early life refractory epilepsy...
  73. ncbi Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review
    Dorota Dworakowska
    Barts and the London School of Medicine, Centre for Endocrinology, London EC1M 6BQ, UK
    Endocr Relat Cancer 16:45-58. 2009
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterised by the development of multiple hamartomas in numerous organs...
  74. ncbi Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model
    Michael Wong
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Ann Neurol 54:251-6. 2003
    Excessive astrocytosis in cortical tubers in tuberous sclerosis complex (TSC) suggests that astrocytes may be important for epileptogenesis in TSC...
  75. ncbi Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells
    Erik J Uhlmann
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Oncogene 21:4050-9. 2002
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant tumor predisposition syndrome characterized by benign proliferations (hamartomas)...
  76. pmc Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
    Michael Wong
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Epilepsia 49:8-21. 2008
    ..basic science evidence for overlapping mechanisms of epileptogenesis in this group of disorders, focusing on tuberous sclerosis complex, focal cortical dysplasia with balloon cells, and gangliogliomas...
  77. pmc Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis
    Kristen Pollizzi
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Mol Cancer 8:38. 2009
    b>Tuberous sclerosis (TSC) is a hamartoma syndrome in which renal and lung tumors cause the greatest morbidity. Loss of either TSC1 or TSC2 in TSC hamartomas leads to activation of mTORC1 and suppression of AKT...
  78. doi Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated
    Prasanna Sooriakumaran
    Department of Urology, St George s Hospital, London, UK
    BJU Int 105:101-6. 2010
    ..To examine the presentation, management and outcomes of patients with renal angiomyolipoma (AML) over a period of 10 years, at St George's Hospital, London, UK...
  79. ncbi Subependymal giant cell tumors in tuberous sclerosis complex
    Suzanne Goh
    Massachusetts General Hospital, Department of Neurology, Boston, MA 02114 3117, USA
    Neurology 63:1457-61. 2004
    ..postoperative outcomes of a clinic-based population of patients with subependymal giant cell tumors (SGCT) and tuberous sclerosis complex (TSC) and to redefine and reclassify SGCT based on radiologic, clinical, and pathologic criteria.
  80. pmc Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs
    Brigid A Staley
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Pediatrics 127:e117-25. 2011
    To describe presenting symptoms and signs according to age group in a cohort of 243 patients with tuberous sclerosis complex (TSC) and identify earlier symptoms and signs that did not lead to immediate diagnosis.
  81. doi Efficacy of sirolimus in treating tuberous sclerosis and lymphangioleiomyomatosis
    Elahna Paul
    N Engl J Med 358:190-2. 2008
  82. pmc Impaired astrocytic gap junction coupling and potassium buffering in a mouse model of tuberous sclerosis complex
    Lin Xu
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Dis 34:291-9. 2009
    Abnormalities in astrocytes occur in the brains of patients with Tuberous Sclerosis Complex (TSC) and may contribute to the pathogenesis of neurological dysfunction in this disease...
  83. ncbi Neuropathology of tuberous sclerosis
    M Mizuguchi
    Department of Pediatrics, Jichi Medical School, Tochigi, 329 0498, Japan
    Brain Dev 23:508-15. 2001
    In the cerebrum of patients with tuberous sclerosis (TSC), there are three types of nodular lesions: cortical tubers, subcortical heterotopic nodules and subependymal giant cell astrocytomas...
  84. ncbi Lymphangioleiomyomatosis: A review
    Donald W Hohman
    Department of Medical Education, Kern Medical Center, Bakersfield, CA 93305, United States
    Eur J Intern Med 19:319-24. 2008
    ..LAM can occur without evidence of other disease (sporadic LAM) or in conjunction with tuberous sclerosis complex (TSC)...
  85. ncbi Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size
    C J Potter
    Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine, Boyer Center for Molecular Medicine, New Haven, CT 06536, USA
    Cell 105:357-68. 2001
    b>Tuberous sclerosis complex is a dominant disorder that leads to the development of benign tumors in multiple organs. We have isolated a mutation in the Drosophila homolog of TSC1 (Tsc1)...
  86. ncbi Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex
    J Moss
    Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, Diagnostic Radiology Department, Warren G Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1590, USA
    Am J Respir Crit Care Med 164:669-71. 2001
    The true prevalence of pulmonary lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex (TSC) is unknown. The prevalence of LAM, radiological features, and lung function in patients with TSC was measured...
  87. ncbi Causes of death in patients with tuberous sclerosis
    C W Shepherd
    Department of Neurology, Mayo Clinic, Rochester, MN 55905
    Mayo Clin Proc 66:792-6. 1991
    Of the 355 patients with tuberous sclerosis complex (TSC) examined at the Mayo Clinic, 49 had died (9 of causes other than TSC)...
  88. ncbi Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
    Sohail F Tavazoie
    Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, Massachusetts 02115, USA
    Nat Neurosci 8:1727-34. 2005
    Mutations in the TSC1 or TSC2 tumor suppressor genes lead to tuberous sclerosis complex (TSC), a dominant hamartomatous disorder that often presents with mental retardation, epilepsy and autism...
  89. ncbi Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex
    Petrus J de Vries
    Neurodevelopmental Service NDS, Cambridgeshire and Peterborough NHS Foundation Trust and Developmental Psychiatry Section, University of Cambridge, Cambridge, CB2 8AH United Kingdom
    Neurotherapeutics 7:275-82. 2010
    Until recently, the neuropsychiatric phenotype of tuberous sclerosis complex (TSC) was presumed to be caused by the structural brain abnormalities and/or seizures seen in the disorder...
  90. ncbi Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid
    Brian R Lane
    Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Urol 180:836-43. 2008
    ..We investigated the clinical, radiographic and histological characteristics of each angiomyolipoma subtype...
  91. pmc Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical models
    Nancy Lee
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Building, Boston, MA, USA
    BMC Pharmacol 9:8. 2009
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome, characterized by hamartomatous growths in the brain, skin, kidneys, lungs, and heart, which lead to significant morbidity...
  92. ncbi Photodynamic therapy for exudative hamartoma in tuberous sclerosis
    Stefan Mennel
    Department of Ophthalmology, Philipps University, Marburg, Germany
    Arch Ophthalmol 124:597-9. 2006
  93. ncbi Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients
    Brigid A Staley
    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
    Epilepsy Behav 13:650-3. 2008
    Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown...
  94. ncbi Hemimegalencephaly with tuberous sclerosis: a longitudinal imaging study
    Hemant Parmar
    Department of Radiology, King Edward VII Memorial Hospital, Bombay, India
    Australas Radiol 47:438-42. 2003
    ..in a child with hemimegalencephaly involving the right cerebral hemisphere with associated manifestations of tuberous sclerosis complex. Gross abnormal myelination pattern and gyral abnormalities were seen in the enlarged hemisphere...
  95. ncbi Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation
    Paulina Rok
    Department of Child Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
    Med Sci Monit 11:CR230-234. 2005
    b>Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity...
  96. ncbi Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond
    Elizabeth Petri Henske
    Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA
    Pediatr Nephrol 20:854-7. 2005
    The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, oncocytomas, renal cell carcinomas, and both benign and malignant angiomyolipomas...
  97. doi Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex
    Ala Birca
    Department of Pediatrics, Neurology Service, Centre hospitalier universitaire Sainte Justine, Universite de Montreal, Quebec, Canada
    J Neurosurg Pediatr 6:381-4. 2010
    b>Tuberous sclerosis complex (TSC) is associated with the potential development of benign hamartomas, including subependymal giant cell astrocytomas (SEGAs)...
  98. doi Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex
    Michal Yalon
    Department of Pediatric Hematology Oncology, Sheba Medical Center, Tel Hashomer, Israel
    Childs Nerv Syst 27:179-81. 2011
    b>Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in the TSC1 or TSC2 genes and characterized by slow-growing tumors in multiple organs...
  99. ncbi Tuberous sclerosis complex: a review
    Alexander K C Leung
    Department of Pediatrics, University of Calgary, and The Asian Medical Centre, an affiliate with The University of Calgary Medical Clinic, Calgary, Alberta, Canada
    J Pediatr Health Care 21:108-14. 2007
    b>Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ...
  100. ncbi TSC1, TSC2, TSC3? Or mosaicism?
    David Kwiatkowski
    Eur J Hum Genet 13:695-6. 2005
  101. ncbi Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene
    H Maruyama
    Department of Pathology, Hoshigaoka Koseinenkin Hospital, Hirakata, Japan
    Mod Pathol 14:609-14. 2001
    A 45-year-old woman with a long-standing diagnosis of tuberous sclerosis (TSC) is presented...

Research Grants85

  1. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2009
    Skin Manifestations of Tuberous Sclerosis This application focuses on the mechanisms of pathogenesis of tuberous sclerosis (TS) and associated angiogenesis...
  2. Understanding the Cognitive Impact of Early Life Epilepsy
    Frances Jensen; Fiscal Year: 2009
    ..abstract_text> ..
  3. The NKCC1 inhibitor bumetanide as a novel therapy in TSC
    Frances E Jensen; Fiscal Year: 2012
    ..by applicant): This proposal aims to provide preclinical data in support of a novel therapy for epilepsy in Tuberous sclerosis complex (TSC), a disorder that includes early life epilepsy, mental retardation and autism...
  4. Modifier Genes of SP-C Induced ILD
    DANIEL PROWS; Fiscal Year: 2004
    ..proteinosis, Gaucher disease, Hermansky-Pudlak syndrome, Neimann-Pick disease, neurofibromatosis, and tuberous sclerosis. Susceptibility to ILDs beyond those for known disorders, however, is believed to have only a minor familial ..
  5. RENAL CYST PATHOGENESIS IN TSC, VHL, AND ADPKD
    ELIZABETH HENSKE; Fiscal Year: 1999
    Renal cysts contribute to the morbidity of 3 autosomal dominant genetic diseases: tuberous sclerosis (TSC), von Hippel Lindau disease (VHL) and autosomal dominant polycystic kidney disease (ADPKD)...
  6. GENETIC STUDY OF AUTISTIC CHILDREN AND ADOLESCENTS
    Edwin Cook; Fiscal Year: 1999
    ..analysis if their mental age is less than 18 months or if they have Fragile X syndrome, phenylketonuria, tuberous sclerosis, or other identifiable chromosomal disorders...
  7. MOLECULAR GENETICS OF INHERITED NEUROLOGIC DISEASES
    Xandra Breakefield; Fiscal Year: 1990
    ..to search the genome for the genes responsible for Batten disease (neuronal ceroid lipofusconosis NCL), tuberous sclerosis, and familial dysautonomia (Riley-Day syndrome)...
  8. DYSTONIA AND TUBEROUS SCLEROSIS--LOCALIZATION ON 9Q32-34
    ELIZABETH HENSKE; Fiscal Year: 1991
    ..been mapped to human chromosome 9q bands 32-34 by genetic linkage studies: idiopathic torsion dystonia and tuberous sclerosis. Idiopathic torsion dystonia is a movement disorder characterized by twisting and repetitive movements or ..
  9. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2003
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  10. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2000
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  11. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2002
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  12. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    Mark Steele; Fiscal Year: 2004
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  13. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2001
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  14. A LINKAGE STUDY IN FAMILIAL PULMONARY FIBROSIS
    David Schwartz; Fiscal Year: 2001
    ..is associated with pleiotropic genetic disorders, such as Hermansky-Pudlak syndrome, neuofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is ..
  15. PHOSPHOPEPTIDE METABOLISM IN ADIPOCYTES
    Joseph Avruch; Fiscal Year: 2009
    ..the small GTPase Rheb;insulin/IGF, through the kinase Akt, suppresses the GTPase activator function of the Tuberous Sclerosis heterodimer promoting the conversion of Rheb to the active state...
  16. PHOSPHOPEPTIDE METABOLISM IN ADIPOCYTES
    Joseph Avruch; Fiscal Year: 2010
    ..the small GTPase Rheb;insulin/IGF, through the kinase Akt, suppresses the GTPase activator function of the Tuberous Sclerosis heterodimer promoting the conversion of Rheb to the active state...
  17. PHOSPHOPEPTIDE METABOLISM IN ADIPOCYTES
    Joseph Avruch; Fiscal Year: 2010
    ..the small GTPase Rheb;insulin/IGF, through the kinase Akt, suppresses the GTPase activator function of the Tuberous Sclerosis heterodimer promoting the conversion of Rheb to the active state...
  18. Mouse Model of Pancreatic Tumorigenesis with Dysregulation of mTOR
    Chongjuan Wei; Fiscal Year: 2009
    ..to be a negative regulator of mTOR [mammalian target of rapamycin] signaling via AMPK activation of the tuberous sclerosis complex 2 (TSC2)...
  19. Regulation of the mTOR Pathway By Nutrients
    David Sabatini; Fiscal Year: 2009
    ..Most notably, the TSC1-TSC2 tumor suppressor complex--whose inactivation causes Tuberous Sclerosis Complex (TSC) and the related disease Lymphangioleiomyomatosis (LAM)--is a major negative regulator of ..
  20. PHASE III TRIAL FO SIROLIMUS IN LYMPHANGIOLEIOMYLMATOSIS
    Francis McCormack; Fiscal Year: 2007
    LAM is a rare, fatal lung disease that affects only women, caused by mutations in tuberous sclerosis genes...
  21. PHASE III TRIAL FO SIROLIMUS IN LYMPHANGIOLEIOMYLMATOSIS
    Francis McCormack; Fiscal Year: 2009
    ..provided by applicant): LAM is a rare, fatal lung disease that affects only women, caused by mutations in tuberous sclerosis genes...
  22. Molecular mechanisms linking early life seizures, autism and intellectual disabil
    Timothy A Benke; Fiscal Year: 2011
    ..phenotype similar to other genetic forms of ID and autism such as Fragile X (FRAX) with FMRP dysfunction and Tuberous Sclerosis (TSC) with mTOR dysfunction...
  23. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2006
    ..The first series of NDC symposia held from 2001-2003 on neurofibromatosis, leukodystrophy, and tuberous sclerosis complex were very successful, and planned conferences on Rett syndrome (2004) and Tourette syndrome (2005) ..
  24. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2009
    ..The first series of NDC symposia held from 2001-2003 on neurofibromatosis, leukodystrophy,and tuberous sclerosis complex were very successful, and planned conferences on Rett syndrome (2004) and Tourette syndrome (2005) ..
  25. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2009
    ..The first series of NDC symposia held from 2001-2003 on neurofibromatosis, leukodystrophy,and tuberous sclerosis complex were very successful, and planned conferences on Rett syndrome (2004) and Tourette syndrome (2005) ..
  26. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard L Maria; Fiscal Year: 2010
    ..The first series of NDC symposia held from 2001-2003 on neurofibromatosis, leukodystrophy,and tuberous sclerosis complex were very successful, and planned conferences on Rett syndrome (2004) and Tourette syndrome (2005) ..
  27. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2007
    ..The first series of NDC symposia held from 2001-2003 on neurofibromatosis, leukodystrophy, and tuberous sclerosis complex were very successful, and planned conferences on Rett syndrome (2004) and Tourette syndrome (2005) ..
  28. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2002
    ..the course of hereditary tumors of the nervous system, in particular in neurofibromatosis type 2 (NF2) and tuberous sclerosis (TSC) This research will provide insight into the etiology of spontaneous neural tumors and mechanisms of ..
  29. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2003
    ..the course of hereditary tumors of the nervous system, in particular in neurofibromatosis type 2 (NF2) and tuberous sclerosis (TSC) This research will provide insight into the etiology of spontaneous neural tumors and mechanisms of ..
  30. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2005
    ..the course of hereditary tumors of the nervous system, in particular in neurofibromatosis type 2 (NF2) and tuberous sclerosis (TSC) This research will provide insight into the etiology of spontaneous neural tumors and mechanisms of ..
  31. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2001
    ..the course of hereditary tumors of the nervous system, in particular in neurofibromatosis type 2 (NF2) and tuberous sclerosis (TSC) This research will provide insight into the etiology of spontaneous neural tumors and mechanisms of ..
  32. ANALYSIS OF GENETIC LINKAGE IN TUBEROUS SCLEROSIS
    Moyra Smith; Fiscal Year: 1990
    b>Tuberous sclerosis is a dominantly inherited disease which is characterized by seizures, dermatologic changes, mental retardation, occurrence of tumors, most commonly in the brain, kidney and heart...
  33. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2004
    ..the course of hereditary tumors of the nervous system, in particular in neurofibromatosis type 2 (NF2) and tuberous sclerosis (TSC) This research will provide insight into the etiology of spontaneous neural tumors and mechanisms of ..
  34. GENERAL CLINICAL RESEARCH CENTER
    THOMAS BOAT; Fiscal Year: 2006
    ..evaluating the effect of rapammune and similar compounds for the treatment of angiolipomata associated with tuberous sclerosis and lymphangioleiomyomatosis (LAMS) for whom no effective therapy other than surgery is available. 4...
  35. GENERAL CLINICAL RESEARCH CENTER
    Arnold Strauss; Fiscal Year: 2007
    ..evaluating the effect of rapammune and similar compounds for the treatment of angiolipomata associated with tuberous sclerosis and lymphangioleiomyomatosis (LAMS) for whom no effective therapy other than surgery is available. 4...
  36. The Lymphangioleiomyomatosis (LAM)Genome Atlas
    DAVID J contact KWIATKOWSKI; Fiscal Year: 2010
    ..LAM occurs as an isolated disorder (sporadic LAM) as well as in women with tuberous sclerosis complex (TSC, TSC-LAM). Renal angiomyolipomas are found in ~60% of sporadic LAM patients...
  37. The Lymphangioleiomyomatosis (LAM)Genome Atlas
    David Kwiatkowski; Fiscal Year: 2009
    ..LAM occurs as an isolated disorder (sporadic LAM) as well as in women with tuberous sclerosis complex (TSC, TSC-LAM). Renal angiomyolipomas are found in ~60% of sporadic LAM patients...
  38. Synaptic Plasticity, Memory and Social Behavior
    ITZAMARIE CHEVERE TORRES; Fiscal Year: 2010
    b>Tuberous sclerosis complex (TSC) is an inherited autosomal disorder characterized by the presence of tubers in several organs, including the brain where it may cause seizures, mental retardation, and autism...
  39. The control of growth and metabolism by effectors of the TOR signaling pathway
    Michael Lehmann; Fiscal Year: 2007
    ..Dysreglulation of the TOR pathway is associated with cancers, causes benign tumors (tuberous sclerosis), and has been linked to diabetes and obesity...
  40. Synaptic Plasticity, Memory and Social Behavior
    ITZAMARIE CHEVERE TORRES; Fiscal Year: 2009
    b>Tuberous sclerosis complex (TSC) is an inherited autosomal disorder characterized by the presence of tubers in several organs, including the brain where it may cause seizures, mental retardation, and autism...
  41. Identifying Epileptogenic Tubers in TSC
    Harry T Chugani; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) affects 1 in 6000 individuals. TSC is an autosomal dominant inherited disorder resulting from mutations in at least two different genes, TSC1 and TSC2...
  42. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2007
    Skin Manifestations of Tuberous Sclerosis This application focuses on the mechanisms of pathogenesis of tuberous sclerosis (TS) and associated angiogenesis...
  43. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2006
    Skin Manifestations of Tuberous Sclerosis This application focuses on the mechanisms of pathogenesis of tuberous sclerosis (TS) and associated angiogenesis...
  44. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2005
    Skin Manifestations of Tuberous Sclerosis This application focuses on the mechanisms of pathogenesis of tuberous sclerosis (TS) and associated angiogenesis...
  45. Interactions Between p90 Ribosomal S6 Kinase and Protein Kinase A
    Tarun Patel; Fiscal Year: 2007
    ..in the cytoplasm is increased with a resultant increase in phosphorylation of the cytosolic RSK1 substrates tuberous sclerosis complex 2 (TSC2) and BAD...
  46. REGULATION OF CELL AND ORGAN SIZE IN VIVO
    ISWAR HARIHARAN; Fiscal Year: 2002
    ..is the Drosophila homologue of the TSC2 gene which is mutated in approximately 70 percent of patients with tuberous sclerosis. One of the loci identified in the screen, rocky has a phenotype that is extremely similar to that of gigas ..
  47. REGULATION OF CELL AND ORGAN SIZE IN VIVO
    ISWAR HARIHARAN; Fiscal Year: 2004
    ..is the Drosophila homologue of the TSC2 gene which is mutated in approximately 70 percent of patients with tuberous sclerosis. One of the loci identified in the screen, rocky has a phenotype that is extremely similar to that of gigas ..
  48. REGULATION OF CELL AND ORGAN SIZE IN VIVO
    ISWAR HARIHARAN; Fiscal Year: 2001
    ..is the Drosophila homologue of the TSC2 gene which is mutated in approximately 70 percent of patients with tuberous sclerosis. One of the loci identified in the screen, rocky has a phenotype that is extremely similar to that of gigas ..
  49. REGULATION OF CELL AND ORGAN SIZE IN VIVO
    ISWAR HARIHARAN; Fiscal Year: 2000
    ..is the Drosophila homologue of the TSC2 gene which is mutated in approximately 70 percent of patients with tuberous sclerosis. One of the loci identified in the screen, rocky has a phenotype that is extremely similar to that of gigas ..
  50. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2009
    ..seen in NF2 patients;b) comparing sporadic angiomyolipomas with angiomyolipomas found in association with tuberous sclerosis and c) performing an initial assessment of chromosomal changes in the periungual fibromas of tuberous ..
  51. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2009
    ..seen in NF2 patients;b) comparing sporadic angiomyolipomas with angiomyolipomas found in association with tuberous sclerosis and c) performing an initial assessment of chromosomal changes in the periungual fibromas of tuberous ..
  52. MOLECULAR GENETICS OF INHERITED NEUROLOGIC DISEASES
    Xandra Breakefield; Fiscal Year: 1999
    ..of genes responsible for the hereditary neuroplasias - neurofibromatosis type 1 (NF1) and 2 (NF2), and tuberous sclerosis type 1 (TSC1) and 2 (TSC2), and to develop improved means of gene delivery to cells in the nervous system...
  53. Allelic Expression Imbalance in Tuberous Sclerosis Complex
    Vinodh Narayanan; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by defects in one of two genes, TSC1 or TSC2...
  54. Tuberous Sclerosis Complex Conference: From Genes to New Therapeutics
    VICKY WHITTEMORE; Fiscal Year: 2007
    ..by applicant): This conference grant application requests funding to support a comprehensive conference on "Tuberous Sclerosis Complex (TSC): From Genes to New Therapeutics" scheduled for September 23-25, 2007 in Annapolis, MD...
  55. Allelic Expression Imbalance in Tuberous Sclerosis Complex
    Vinodh Narayanan; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by defects in one of two genes, TSC1 or TSC2...
  56. Roles of Tuberin (TSC2), Hamartin (TSC1), and Rheb in Renal Cyst Pathogenesis
    ELIZABETH HENSKE; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is caused by germline inactivating mutations in the TSC1 or TSC2 genes, which encode hamartin (TSC1) and tuberin (TSC2), respectively...
  57. SECRETION AND BIOSYNTHESIS OF INSULIN
    Michael McDaniel; Fiscal Year: 2009
    ..Recent studies have determined that inhibition of glycogen synthase kinase-3 (GSK-3) &tuberous sclerosis complex 2 (TSC2) are required for mTOR activation...
  58. SECRETION AND BIOSYNTHESIS OF INSULIN
    Michael L McDaniel; Fiscal Year: 2010
    ..Recent studies have determined that inhibition of glycogen synthase kinase-3 (GSK-3) &tuberous sclerosis complex 2 (TSC2) are required for mTOR activation...
  59. Roles of Tuberin (TSC2), Hamartin (TSC1), and Rheb in Renal Cyst Pathogenesis
    Elizabeth P Henske; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is caused by germline inactivating mutations in the TSC1 or TSC2 genes, which encode hamartin (TSC1) and tuberin (TSC2), respectively...
  60. GENETIC INFLUENCES IN AUTISM AND TUBEROUS SCLEROSIS
    Susan Smalley; Fiscal Year: 1993
    Autism is a behavior disorder with numerous etiologies, some of which are genetic. Tuberous sclerosis is a genetic disorder with behavioral manifestations, including autism...
  61. SECRETION AND BIOSYNTHESIS OF INSULIN
    Michael L McDaniel; Fiscal Year: 2010
    ..Recent studies have determined that inhibition of glycogen synthase kinase-3 (GSK-3) &tuberous sclerosis complex 2 (TSC2) are required for mTOR activation...
  62. GENETIC INFLUENCES IN AUTISM AND TUBEROUS SCLEROSIS
    M Spence; Fiscal Year: 1990
    Autism is a behavior disorder with numerous etiologies, some of which are genetic. Tuberous sclerosis is a genetic disorder with behavioral manifestations, including autism...
  63. Tuberin and hamartin in rapamycin-sensitive & rapamycin-insensitive smooth muscle
    Geraldine Finlay; Fiscal Year: 2009
    ..is the hallmark of many diseases, including pulmonary hypertension, asthma, lymphangioleiomyomatosis, and tuberous sclerosis complex (TSC)...
  64. Tuberin and hamartin in rapamycin-sensitive & rapamycin-insensitive smooth muscle
    Geraldine A Finlay; Fiscal Year: 2010
    ..is the hallmark of many diseases, including pulmonary hypertension, asthma, lymphangioleiomyomatosis, and tuberous sclerosis complex (TSC)...
  65. mTOR-containing Protein Complexes in the Pathogenesis of Tuberous Sclerosis
    ARNOLD KRISTOF; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is a genetically inherited disease of benign tumors in multiple organs...
  66. mTOR-containing Protein Complexes in the Pathogenesis of Tuberous Sclerosis
    ARNOLD KRISTOF; Fiscal Year: 2007
    b>Tuberous sclerosis complex (TSC) is a genetically inherited disease of benign tumors in multiple organs...
  67. mTOR-containing Protein Complexes in the Pathogenesis of Tuberous Sclerosis
    ARNOLD KRISTOF; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is a genetically inherited disease of benign tumors in multiple organs...
  68. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2003
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  69. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2001
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  70. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2002
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  71. Cell Growth Signaling in Cancer Development
    David M Sabatini; Fiscal Year: 2010
    ..Most notably, the TSC1-TSC2 tumor suppressor complex--whose inactivation causes the tumor- prone syndrome Tuberous Sclerosis Complex (TSC) and the related disease Lymphangioleiomyomatosis (LAM)--is a major negative regulator of ..
  72. Cell Growth Signaling in Cancer Development
    David Sabatini; Fiscal Year: 2009
    ..Most notably, the TSC1-TSC2 tumor suppressor complex--whose inactivation causes the tumor- prone syndrome Tuberous Sclerosis Complex (TSC) and the related disease Lymphangioleiomyomatosis (LAM)--is a major negative regulator of ..
  73. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2004
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  74. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2001
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  75. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2003
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  76. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard Maria; Fiscal Year: 2005
    ..Each of the conditions selected as symposia topics- leukodystrophy, tuberous sclerosis complex, neurofibromatosis, Rett syndrome, and Tourette syndrome- are significant to the child neurology ..
  77. Molecular Etiology of Leiomyoma Uteri
    Cheryl Walker; Fiscal Year: 2007
    ..Loss of the tuberous sclerosis complex 2 (TSC-2) tumor suppressor gene results in the development of leiomyoma uteri in the Eker rat model ..
  78. Molecular Pathogenesis of the Hamartoma Syndromes
    David Kwiatkowski; Fiscal Year: 2009
    ..This research will provide insight into the pathogenesis of tuberous sclerosis complex (TSC), Peutz-Jeghers syndrome (PJS), and the variety of PTEN syndromes (e.g...