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. 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
  2. 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
  3. ncbi 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. ncbi Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
    John J Bissler
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Lancet 381:817-24. 2013
  9. 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
  10. 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

Detail Information

Publications315 found, 100 shown here

  1. 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...
  2. 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
  3. ncbi 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...
  4. 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...
  5. 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...
  6. 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.
  7. 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...
  8. ncbi Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
    John J Bissler
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Lancet 381:817-24. 2013
    ..with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. ncbi Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
    David Neal Franz
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Lancet 381:125-32. 2013
    b>Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in several organs...
  15. ncbi 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...
  16. 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)...
  17. ncbi Tuberous sclerosis complex: advances in diagnosis, genetics, and management
    Robert A Schwartz
    Department of Dermatology, New Jersey Medical School, Newark, NJ 07103, USA
    J Am Acad Dermatol 57:189-202. 2007
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome characterized by the development of multiple hamartomas distributed throughout the body, skin, brain, heart, kidneys, liver, and lungs...
  18. 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...
  19. 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...
  20. pmc Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis
    Nicole A Neuman
    Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
    EMBO Mol Med 3:189-200. 2011
    The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb)...
  21. ncbi 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...
  22. pmc Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
    Robert P Carson
    Department of Neurology and Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37232, USA
    Neurobiol Dis 45:369-80. 2012
    b>Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease that prominently features brain malformations (tubers) with many patients suffering from epilepsy and autism...
  23. ncbi 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...
  24. ncbi Early control of seizures improves long-term outcome in children with tuberous sclerosis complex
    Roberta Bombardieri
    Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, Via Montpellier 1, Rome 00133, Italy
    Eur J Paediatr Neurol 14:146-9. 2010
    Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and intractable seizures in the majority of children...
  25. 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...
  26. pmc Increased activation of Iba1+ microglia in pediatric epilepsy patients with Rasmussen's encephalitis compared with cortical dysplasia and tuberous sclerosis complex
    Martin Wirenfeldt
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, 10833 Le Conte Avenue, Los Angeles, CA 90095, USA
    Neurobiol Dis 34:432-40. 2009
    ..in neocortex from pediatric epilepsy surgery patients with RE (n=8), cortical dysplasia (CD; n=6) and tuberous sclerosis complex (TSC; n=6)...
  27. 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...
  28. ncbi 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)...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. ncbi 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)...
  36. 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...
  37. 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...
  38. pmc Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC)
    Neil Auricchio
    Translational Medicine Division, Brigham and Women s Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 7:e31900. 2012
    b>Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal...
  39. pmc Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex
    Atsushi Sato
    Addictive Substance Project, Tokyo Metropolitan Institute of Medical Science, Tokyo 156 8506, Japan
    Nat Commun 3:1292. 2012
    ..Genetic disorders frequently accompany autism spectrum disorder, such as tuberous sclerosis complex caused by haploinsufficiency of the TSC1 and TSC2 genes...
  40. 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...
  41. 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...
  42. ncbi Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
    Marianne Hoogeveen-Westerveld
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Hum Mutat 32:424-35. 2011
    ..to characterize variants identified in the TSC1 and TSC2 genes in individuals with, or suspected of having, Tuberous Sclerosis Complex (TSC). Here we present an overview of our functional studies on 45 TSC1 and 107 TSC2 variants...
  43. ncbi Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration
    Aristotelis Astrinidis
    Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia, Pennsylvania, PA 19111, USA
    Oncogene 21:8470-6. 2002
    b>Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome characterized by seizures, mental retardation, autism, and tumors of the brain, kidney, heart, retina, and skin...
  44. 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...
  45. ncbi A topical combination of rapamycin and tacrolimus for the treatment of angiofibroma due to tuberous sclerosis complex (TSC): a pilot study of nine Japanese patients with TSC of different disease severity
    M Wataya-Kaneda
    Department of Dermatology, Graduate School of Medicine, Osaka University, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    Br J Dermatol 165:912-6. 2011
    Dysregulation of mTOR signalling by mutations in tuberin and/or hamartin leads to the formation of tuberous sclerosis complex (TSC). Trials to treat TSC using mTOR inhibitors, including rapamycin, have been performed...
  46. ncbi Pi3K-mTOR signaling and AMOG expression in epilepsy-associated glioneuronal tumors
    Karin Boer
    Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, The Netherlands
    Brain Pathol 20:234-44. 2010
    ..The strong expression of AMOG within the precursor cells of GG may represent an additional marker for the diagnostic evaluation of these glioneuronal lesions...
  47. ncbi Tuberous sclerosis: from tubers to mTOR
    D J Kwiatkowski
    Hematology Division, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Ann Hum Genet 67:87-96. 2003
    b>Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1 and TSC2) were identified 5 and 9 years ago respectively...
  48. ncbi Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus MC, 3015 GE Rotterdam, The Netherlands
    Eur J Hum Genet 13:59-68. 2005
    b>Tuberous sclerosis is an autosomal dominant human disorder caused by inactivating mutations to either the TSC1 or TSC2 tumour suppressor gene...
  49. pmc Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas
    Shaowei Li
    Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814 4712, USA
    Proc Natl Acad Sci U S A 105:3539-44. 2008
    Patients with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation...
  50. 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...
  51. ncbi 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)...
  52. ncbi 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.
  53. 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).
  54. ncbi 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 ..
  55. 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...
  56. ncbi 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)...
  57. ncbi 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)...
  58. 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...
  59. 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...
  60. 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)...
  61. 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...
  62. 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...
  63. 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...
  64. 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...
  65. 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...
  66. 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...
  67. 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 ..
  68. ncbi 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...
  69. 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...
  70. pmc Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53
    Chung Han Lee
    Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA
    EMBO J 26:4812-23. 2007
    ..Clinically, this also suggests that the efficacy of mTOR inhibitors in anti-neoplastic therapy may also depend on p53 status, and mTOR inhibitors may antagonize the effects of genotoxic chemotherapeutics...
  71. 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...
  72. ncbi The LKB1 tumor suppressor negatively regulates mTOR signaling
    Reuben J Shaw
    Department of Systems Biology, Harvard Medical School and Division of Signal Transduction, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA
    Cancer Cell 6:91-9. 2004
    ..These findings position aberrant mTOR activation at the nexus of these germline neoplastic conditions and suggest the use of mTOR inhibitors in the treatment of Peutz-Jeghers syndrome...
  73. 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...
  74. 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)...
  75. 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...
  76. ncbi Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis
    Anna K Haemel
    Departments of Dermatology and Pediatrics, University of Wisconsin School of Medicine and Public Health, 1 S Park St, Seventh Floor, Madison, WI 53715
    Arch Dermatol 146:715-8. 2010
  77. 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)..
  78. ncbi The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
    Margit Rosner
    Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Wahringer Gurtel 18 20, Vienna, Austria
    Mutat Res 658:234-46. 2008
    ..tumor suppressor genes TSC1 and TSC2, encoding hamartin and tuberin, respectively, cause the tumor syndrome tuberous sclerosis with similar phenotypes...
  79. ncbi The TSC-mTOR signaling pathway regulates the innate inflammatory response
    Thomas Weichhart
    Department of Internal Medicine III, Clinical Division of Nephrology and Dialysis, Medical University Vienna, Vienna, Austria
    Immunity 29:565-77. 2008
    ..Here, we showed that the tuberous sclerosis complex-mammalian target of rapamycin (TSC-mTOR) pathway regulated inflammatory responses after bacterial ..
  80. 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...
  81. 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 ..
  82. 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...
  83. 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...
  84. ncbi 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)...
  85. 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 ..
  86. ncbi Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment
    Nisreen El-Hashemite
    Brigham and Women s Hospital, Hematology Division, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cancer Res 64:3436-43. 2004
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread development of hamartomas, which is caused by mutations in either TSC1 or TSC2...
  87. ncbi Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: a pilot study of four patients
    Rachael S Foster
    Department of Paediatric Dermatology, Princess Margaret Hospital for Children, Subiaco, Western Australia, Australia
    Australas J Dermatol 53:52-6. 2012
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant genodermatosis characterised by the development of hamartomatous tumours in multiple organs including the brain, skin, kidneys, heart and lungs...
  88. ncbi Epilepsy surgery in tuberous sclerosis: a systematic review
    Floor E Jansen
    Department of Child Neurology, Rudolf Magnus Institute of Neuroscience and Julius Centre for Health Sciences and Primary Care, University Medical Centre, 3508 GA Utrecht, The Netherlands
    Epilepsia 48:1477-84. 2007
    b>Tuberous sclerosis complex (TSC) is often associated with intractable epilepsy. Although epilepsy surgery has gained interest in recent years uncertainties exist about which patients are good surgical candidates...
  89. ncbi Cardiac rhabdomyomas in tuberous sclerosis patients: a case report and review of the literature
    Nadia Benyounes
    Cardiology Unit, Department of Anaesthesiology, Fondation Ophtalmologique Adolphe de Rothschild, 25 29, rue Manin, 75940 Paris Cedex 19, France
    Arch Cardiovasc Dis 105:442-5. 2012
    Rhabdomyomas are the most common benign cardiac tumours. They are often associated with tuberous sclerosis and can be diagnosed antenatally and postnatally by echocardiography...
  90. pmc Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
    Elizabeth Yuan
    Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 21:4286-300. 2012
    b>Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with prominent brain manifestations due to mutations in either TSC1 or TSC2...
  91. ncbi Efficacy of combined inhibition of mTOR and ERK/MAPK pathways in treating a tuberous sclerosis complex cell model
    Ruifang Mi
    Department of Physiology, Institute of Basic Medical Sciences and School of Basic Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    J Genet Genomics 36:355-61. 2009
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome which afflicts multiple organs and for which there is no cure, such that TSC patients may develop severe mental retardation and succumb to renal or respiratory ..
  92. pmc Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference
    Hope Northrup
    Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas Electronic address
    Pediatr Neurol 49:243-54. 2013
    b>Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual...
  93. pmc Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration
    R Michelle Reith
    University of Texas Health Science Center at Houston, Department of Pediatrics, Division of Medical Genetics, Houston, TX 77030, USA
    Neurobiol Dis 43:113-22. 2011
    b>Tuberous sclerosis complex (TSC) is a neurogenetic disorder that often causes brain abnormalities leading to epilepsy, developmental delay, and autism...
  94. ncbi Facial angiofibromas treated with topical rapamycin: an excellent choice with fast response
    Teresa Truchuelo
    Ramón y Cajal Hospital Madrid, Spain
    Dermatol Online J 18:15. 2012
    b>Tuberous sclerosis (TS) is the second most common genodermatosis in our country and one of its main characteristics is the presence of facial angiofibromas...
  95. ncbi Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
    Katarzyna Kotulska
    Department of Science, The Children s Memorial Health Institute, Warsaw, Poland
    Eur J Paediatr Neurol 17:479-85. 2013
    b>Tuberous sclerosis complex (TSC) is a genetic disorder characterized by increased mammalian target of rapamycin (mTOR) activation and growth of benign tumors in several organs throughout the body...
  96. 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...
  97. 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...
  98. ncbi 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)...
  99. ncbi 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 ..
  100. 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, ..
  101. 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...

Research Grants74

  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. Role of Diabetes in Development of Renal Cell Carcinoma
    SAMY LEWIZ HABIB; Fiscal Year: 2013
    ..One of the tumor suppressor genes involved in renal carcinogenesis is tuberous sclerosis gene (TSC2), which encodes tumor suppressor protein, tuberin...
  3. Regulation of Hepatic Lipid and Glucose Metabolism by PC-TP/StarD2
    David E Cohen; Fiscal Year: 2013
    ..composition that limits insulin signaling by binding thioesterase superfamily member 2 (Them2) and tuberous sclerosis complex 2 (TSC2)...
  4. Analysis of the tumor suppressor gene Tsc1 in motor neuron patterning
    Onanong Chivatakarn; Fiscal Year: 2013
    ..MN pathfinding defects in a mouse mutant called Greenlight (GrL) are caused by a missense mutation in the tuberous sclerosis complex 1 (TSC1) gene...
  5. PHOSPHOPEPTIDE METABOLISM IN ADIPOCYTES
    Joseph Avruch; Fiscal Year: 2013
    ..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...
  6. SECRETION AND BIOSYNTHESIS OF INSULIN
    Michael L McDaniel; Fiscal Year: 2012
    ..Recent studies have determined that inhibition of glycogen synthase kinase-3 (GSK-3) &tuberous sclerosis complex 2 (TSC2) are required for mTOR activation...
  7. Regulation of Hepatic Glucose Homeostasis by Phosphatidylcholine Transfer Protein
    Baran Ersoy; Fiscal Year: 2012
    ..homeostasis by forming a regulatory complex together with thioesterase superfamily member 2 (THEM2) and tuberous sclerosis complex 2 (TSC2), which modulates insulin signaling potentialy via endoplasmic reticulum (ER) stress...
  8. Elucidating the role of the eIF2alpha kinase PERK in synaptic plasticity and memo
    MY AI TRINH; Fiscal Year: 2010
    ..Fragile X linked mental retardation, Alzheimer's disease (AD), Parkinson's disease (PD) and tuberous sclerosis. Thus, abnormal PERK function could be a significant factor underlying the manifestation in severe, ..
  9. Structural consequences of TSC gene mutations in brain
    Peter B Crino; Fiscal Year: 2012
    b>Tuberous sclerosis complex (TSC) is an autosomal disorder resulting from mutations in the TSC1 or TSC2 genes that is associated with epilepsy, cognitive disability, and autism...
  10. Regulation of Neurogenesis in TSC by mTORC1 and mTORC2
    Kevin C Ess; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Tuberous Sclerosis Complex (TSC) is a genetic disease caused by mutation of the TSC1 or TSC2 genes...
  11. Molecular Genetics of Inherited Neurological Diseases
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2012
    ..etiology and to ameliorate the course of the hereditary phakomatoses, neurofibromatosis type 2 (NF2), tuberous sclerosis (TSC) and related disorders...
  12. Summit on Drug Discovery in Tuberous Sclerosis Complex and Related Disorders
    Elizabeth P Henske; Fiscal Year: 2011
    ..by applicant): This R13 grant application requests funding to support the "Summit on Drug Discovery for Tuberous Sclerosis Complex and Related Disorders" scheduled for July 6-9, 2010 in Washington, DC at the Omni Shoreham Hotel...
  13. Sleep and Circadian Rhythms in Tuberous Sclerosis Complex
    JONATHAN OREN LIPTON; Fiscal Year: 2013
    ..This may be especially true for children with neurodevelopmental disorders such as Tuberous Sclerosis Complex (TSC)...
  14. Uterine-specific genetic modification and lymphangioleiomyomatosis
    JOSE M TEIXEIRA; Fiscal Year: 2012
    ..Additionally, LAM is often found in patients with mutations in tuberous sclerosis complex (TSC), suggesting that inactivation of TSC can contribute to its development...
  15. 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...
  16. Homeostatic Regulation of Presynaptic Function by Dendritic mTORC1
    FREDRICK EARL HENRY; Fiscal Year: 2013
    ..on which to establish novel targets of therapeutic intervention for neurological disorders such as tuberous sclerosis complex and ASD, as well as significantly advance the field of synaptic plasticity at large...
  17. Pathogenesis of TSC2-Related Tumors
    Raymond Yeung; Fiscal Year: 2012
    ..Consequently, patients with tuberous sclerosis (TSC) develop multiple tumor-like lesions that exhibit aberrant phenotypes in cell size (growth), ..
  18. High Resolution Mass Spectrometry System
    John M Asara; Fiscal Year: 2012
    ..components of the ribosome in disease models involving anemia, (4) Elucidation of the functional role of the tuberous sclerosis complex (TSC) tumor suppressors (TSC1 and TSC2) effects on the TORC complexes and (5) Proteomics ..
  19. 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...
  20. Identifying Epileptogenic Tubers in TSC
    Harry Chugani; Fiscal Year: 2013
    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...
  21. Regulation of the mTOR Pathway By Nutrients
    David M Sabatini; Fiscal Year: 2013
    ..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 ..
  22. 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...
  23. The Mechanism of Excess Neural Crest-Derived Craniofacial Bone Formation in a Mou
    Fei Liu; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Tuberous sclerosis (TSC) is a genetic disorder characterized by the presence of benign congenital tumors in multiple organs and is caused by mutations in one of two genes, called TSC1 and TSC2...
  24. Tuberin &hamartin in rapamycin-sensitive &insensitive smooth muscle cell growth
    Usamah S Kayyali; Fiscal Year: 2013
    ..is the hallmark of many diseases, including pulmonary hypertension, asthma, lymphangioleiomyomatosis, and tuberous sclerosis complex (TSC)...
  25. Molecular Pathogenesis of the Hamartoma Syndromes
    David J Kwiatkowski; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The hamartoma syndromes include tuberous sclerosis (TSC), due to mutations in TSC1 orTSC2;Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, due to mutations in PTEN;and Peutz-Jeghers syndrome, due ..
  26. MicroRNAs in Synaptic Plasticity and Behaviors Relevant to Autism
    Raymond J Kelleher; Fiscal Year: 2013
    ..For example, the gene products inactivated in tuberous sclerosis complex and fragile X syndrome function as translational repressors...
  27. The NKCC1 inhibitor bumetanide as a novel therapy in TSC
    Frances E Jensen; Fiscal Year: 2013
    ..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...
  28. The TSC-mTOR pathway in cellular and organismal energy metabolism
    Kun Liang Guan; Fiscal Year: 2013
    ..TSC1 and TSC2 are two tumor suppressor genes mutated in the tuberous sclerosis. The TSC1/TSC2 complex functions as a GTPase activating protein (GAP) to inhibit the Rheb small GTPase, ..
  29. Interactions Between p90 Ribosomal S6 Kinase and Protein Kinase A
    Tarun B Patel; Fiscal Year: 2010
    ..in the cytoplasm is increased with a resultant increase in phosphorylation of the cytosolic RSK1 substrates tuberous sclerosis complex 2 (TSC2) and BAD...
  30. Growth regulatory targets of the Tuberous Sclerosis Complex
    ROBERT NEIL EISENMAN; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Tuberous sclerosis (TS) is an autosomal dominant disease that causes widespread benign tumors in many tissues including the brain, lung, kidney, skin, eyes, and teeth...
  31. Role of folliculin (FLCN) in lung cell survival
    Vera P Krymskaya; Fiscal Year: 2013
    ..that FLCN is required for lung cell survival by acting within 5'-AMP-activated protein kinase (AMPK) - tuberous sclerosis complex 2 (TSC2) - mammalian target of rapamycin complex 2 (mTORC2) signaling pathway...
  32. mTOR signaling and sporadic chordomas
    Sangyeul Han; Fiscal Year: 2010
    ..Molecular mechanism of chordoma development remains unknown. Intriguingly, tuberous sclerosis complex (TSC) is the only known syndrome where the incidence of chordomas has been described...
  33. Third International Chordoma Research Workshop: Catalyzing New Advances in Chordo
    EDWARD LES; Fiscal Year: 2011
    ..placed on exploring clinical and biological commonalities with related diseases including other sarcomas and Tuberous Sclerosis Complex...
  34. Mechanisms of Brain Dysfunction in Tuberous Sclerosis
    Michael Wong; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Tuberous Sclerosis Complex (TSC) is one of the most common genetic causes of epilepsy. In addition, epilepsy in TSC is typically very severe and intractable to available therapies...
  35. The Role of FKBP38 in tumorigenesis associated with Tsc deficiency
    Yu Jiang; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that affects about 1 in 6000 individuals...
  36. The In Vivo Role of JNK-1 and IRS-1 Ser307 Phosphorylation In Development of Insu
    Umut Ozcan; Fiscal Year: 2012
    ..b>Tuberous sclerosis complex 1 and 2 (TSC1 and 2) genes both encode tumor suppressors...
  37. 2013 LAM Symposium
    FRANCIS XAVIER MCCORMACK; Fiscal Year: 2013
    ..has evolved from a dedicated family/patient conference to a state of the art scientific meeting for LAM and tuberous sclerosis. The basic science sessions will highlight research on the cellular and genetic basis of smooth muscle ..
  38. A 3D Model of Human Brain Development for Studying Gene/Environment Interactions
    Thomas Hartung; Fiscal Year: 2013
    ..feasibility that genetic background is important in DNT, iPSC from individuals with Down's Syndrome and Tuberous Sclerosis Complex will be tested...
  39. Roles of autophagy-mediated pathways in the pathogenesis and treatment of TSC
    Elizabeth P Henske; Fiscal Year: 2013
    ..Mammalian target of rapamycin (mTOR) complex 1 (TORC1), which is activated in tuberous sclerosis complex (TSC), is a master regulator of cell growth, cellular metabolism, and autophagy...
  40. NEUROBIOLOGY OF DISEASE IN CHILDREN CONFERENCES
    Bernard L Maria; Fiscal Year: 2013
    ..The first series of NDC symposia were held from 2001-2005 on neurofibromatosis, leukodystrophy, and tuberous sclerosis complex, Rett syndrome (2004) and Tourette syndrome (2005)...
  41. The mTOR pathway in neuronal death and epileptogenesis
    Yunfei Huang; Fiscal Year: 2011
    ..used as immunosuppressant for organ transplantation and was recently put on clinical trial in patients with tuberous sclerosis complex (TSC)...
  42. mTOR modulation of myelination
    Robert P Carson; Fiscal Year: 2013
    ..in animal models as well as from patient derived imaging data suggesting abnormalities in myelination in Tuberous Sclerosis Complex (TSC)...
  43. Analysis of intracellular signaling in angiogenesis
    Jun Lin Guan; Fiscal Year: 2013
    ..We also generated and analyzed both embryonic and inducible EC-specific KO of TSC1 (tuberous sclerosis complex 1), which provided the first direct evidence for a role of TSC/mTOR signaling in the embryonic ..
  44. The Role of IKK and NF-kappaB in Controlling mTOR Signaling and TSC Progression
    Hancai Dan; Fiscal Year: 2013
    Project Abstract Tuberous sclerosis complex (TSC) is a human syndrome characterized by widespread development of benign tumors in a variety of organs including skin, brain, lung, heart and kidney...
  45. Role of Perinatal Neuronal Stem Cells in Tuber Formation
    DAVID MATTHEW FELICIANO; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Tuberous Sclerosis Complex (TSC) is a severe genetic disorder characterized by angiofibroma, mental retardation, and epilepsy, the latter of which likely results from benign malformations known as ..
  46. The Role of IKK and NF-kappaB in Controlling mTOR Signaling and TSC Progression
    Hancai Dan; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is a human syndrome characterized by widespread development of benign tumors in a variety of organs including skin, brain, lung, heart and kidney...
  47. Tuberous Sclerosis: Mutations and Murine Models
    David J Kwiatkowski; Fiscal Year: 2013
    b>Tuberous sclerosis (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting 1 in 6,000 births, characterized by development of distinctive benign tumors (hamartomas) and malformations (hamartias) in multiple organ systems...
  48. Piloting Treatment with Insulin-Like Growth Factor-1 in Phelan-McDermid Syndrome
    Alexander Kolevzon; Fiscal Year: 2013
    ..Following the development pathway of emerging therapeutics in Fragile X syndrome, Rett syndrome, and tuberous sclerosis, we anticipate that IGF-1 in SHANK3 deficiency has the potential to represent the next forefront in the ..
  49. Prospective/Retrospective Motion Correction System for Motion Robust Pediatric MR
    Simon K Warfield; Fiscal Year: 2010
    ..Young children and adult patients with autism or tuberous sclerosis often have difficulty to hold still long enough for successful imaging...
  50. Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis
    Mustafa Sahin; Fiscal Year: 2013
    ..b>Tuberous Sclerosis Complex (TSC) is a genetic disorder in which approximately 50% of individuals are also affected with ASD...
  51. TSC2 Localization and Function at the Peroxisome
    Cheryl L Walker; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The Tuberous Sclerosis Complex 2 (TSC2) tumor suppressor functions as a gatekeeper for mTOR activity in the PI3K signaling pathway...
  52. Regulation of Dermal Fibroblasts in Skin Regeneration and Healing
    Thomas N Darling; Fiscal Year: 2013
    ..Fibroblast-like cells with loss of TSC2, derived from angiofibromas and forehead plaques in patients with tuberous sclerosis complex (TSC), induced hair follicle formation, angiogenesis, and lymphangiogenesis in grafted skin ..
  53. Delaying Cone Death in Retinitis Pigmentosa
    Claudio Punzo; Fiscal Year: 2013
    ..in cones, by deletion of the phosphatase and tensin homolog (PTEN) and separately, by deletion of the tuberous sclerosis complex protein 1 (TSC1)...
  54. 2013 International Research Conference on Tuberous Sclerosis Complex and Related
    Steven L Roberds; Fiscal Year: 2013
    ..conference is to stimulate collaborative research to address unmet medical needs of those affected by tuberous sclerosis complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and ..
  55. Mechanisms Underlying the Cerebellar Contribution to Autism in Mouse Models of Tu
    Peter T Tsai; Fiscal Year: 2013
    ..b>Tuberous Sclerosis Complex, a genetic disorder caused by mutation in either Tsc1 or Tsc2, has high rates of autism (~50%)...
  56. The Role of STRADalpa in Corticogenesis and Neuropathogenesis of Pretzel Syndrome
    KSENIA ALEXANDRA ORLOVA; Fiscal Year: 2010
    ..Several devastating neurodevelopmental disorders, such as Tuberous Sclerosis Complex (TSC) and certain types of autism associated with epilepsy, have been shown to result from mutations ..
  57. Regulation of the mTOR Pathway by Hypoxia and the REDD1 Protein
    James Brugarolas; Fiscal Year: 2012
    ..Signals from growth factors and energy stores are relayed to mTORC1 through the tuberous sclerosis complex proteins 1 (TSC1) and 2 (TSC2), which form a complex (TSC1/TSC2) with tumor suppressor function...
  58. Function and mechanism of REDD1/mTOR signaling in metabolism and tumorigenesis
    Leif W Ellisen; Fiscal Year: 2013
    ..elucidated the mechanism whereby hypoxia inhibits mTORC1 activity, in which REDD1 functions to activate the tuberous sclerosis (TSC1/2) tumor suppressor complex...
  59. Elucidating the Roles of SHANK3 and FXR in the Autism Interactome
    Huda Y Zoghbi; Fiscal Year: 2010
    ..latter class connects SHANK3 to the Fragile X protein (FMRP) and its paralogs (FXR1 and 2) as well as the tuberous sclerosis complex proteins (TSC1 and TSC2)...
  60. TSC-mTOR on neuron development
    Angelique Bordey; Fiscal Year: 2013
    ..as well as mTOR-independent molecules contribute to cortical neuron hypertrophy and misplacement in Tuberous Sclerosis Complex (TSC)...
  61. MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism
    Simon K Warfield; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): MRI Biomarkers of Patients with Tuberous Sclerosis Complex and Autism Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the presence of benign tumors, called ..
  62. Therapeutic Strategy for LAM (Lymphangioleiomyomatosis)
    TONY EISSA; Fiscal Year: 2013
    b>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in tuberous sclerosis complex 1 (TSC1) or TSC2...
  63. Exploration of Activity of RAD001 in vivo in Vestibular Schwannomas and Meningiom
    MATTHIAS ANGELOS KARAJANNIS; Fiscal Year: 2013
    ..It has recently shown remarkable efficacy in a genetic tumor syndrome similar to NF2 called Tuberous Sclerosis. In other tumor types, such as malignant cancers with Merlin loss, the anti-tumor efficacy of RAD001 may be ..
  64. 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)...
  65. 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...
  66. 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 ..
  67. 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)...
  68. 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...
  69. 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...
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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 ..