Genomes and Genes
Gene Symbol: TSC1
Description: tuberous sclerosis 1
Alias: LAM, TSC, hamartin, tuberous sclerosis 1 protein, tumor suppressor
Publications254 found, 100 shown here
- Oncogenes and tumor-suppressor genesT A Lehman
Laboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD 20892
Environ Health Perspect 93:133-44. 1991..The mechanistic role of the known tumor-suppressor genes Rb-1 and p53 in the development of human lung carcinomas is being investigated in this epithelial cell model of human bronchogenic carcinogenesis...
- Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutationsF E Jansen
Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre, 3508 GA Utrecht, The Netherlands
Neurology 70:908-15. 2008The purpose of this study was to systematically analyze the associations between different TSC1 and TSC2 mutations and the neurologic and cognitive phenotype in patients with tuberous sclerosis complex (TSC).
- Do children with tuberous sclerosis complex have superior musical skill?--A unique tendency of musical responsiveness in children with TSCKumi Matsuyama
Department of Psychopathology and Psychotherapy, Postgraduate School of Medicine, Nagoya University, Nagoya, Japan
Med Sci Monit 13:CR156-64. 2007Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that manifests with symptoms that might include mental retardation, epilepsy, skin lesions, and hamartomas in the heart, brain, and kidneys...
- Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressorsBryan 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..in the ERK/p90 ribosomal S6 kinase-signaling targets, the tuberous sclerosis complex (TSC) tumor suppressors TSC1 and TSC2...
- Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladderMargaret A Knowles
Division of Cancer Medicine Research, Cancer Research UK Clinical Centre, St James s University Hospital, Beckett Street, Leeds, West Yorkshire LS9 7TF, U K
Cancer Res 63:7652-6. 2003..However, during a search for candidate bladder tumor suppressor genes within the 9q34 region of LOH, we previously found a small number of mutations of TSC1, raising the ..
- Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signalingAndrew R Tee
Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 99:13571-6. 2002..These findings strongly implicate the tuberin-hamartin tumor suppressor complex as an inhibitor of mTOR and suggest that the formation of tumors within TSC patients may result from ..
- Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signalingKen Inoki
Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
Genes Dev 17:1829-34. 2003Tuberous sclerosis complex (TSC) is a genetic disease caused by mutation in either TSC1 or TSC2. The TSC1 and TSC2 gene products form a functional complex and inhibit phosphorylation of S6K and 4EBP1...
- IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathwayDung Fang Lee
Department of Molecular and Cellular Oncology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
Cell 130:440-55. 2007..The tuberous sclerosis 1 (TSC1)/TSC2 tumor suppressor complex serves as a repressor of the mTOR pathway, and disruption of TSC1/TSC2 complex function may ..
- Redox regulates mammalian target of rapamycin complex 1 (mTORC1) activity by modulating the TSC1/TSC2-Rheb GTPase pathwaySei Yoshida
Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA
J Biol Chem 286:32651-60. 2011..of the cellular redox potential with a cysteine oxidant or reducing agent failed to alter mTORC1 activity in TSC1(-/-) or TSC2(-/-) mouse embryonic fibroblast cells...
- The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitinationG Benvenuto
Laboratory of Cellular Oncology, National Cancer Institute, Bethesda, Maryland, MD 20892, USA
Oncogene 19:6306-16. 2000We report here that overexpression of the tuberous sclerosis-1 (TSC1) gene product hamartin results in the inhibition of growth, as well as changes in cell morphology...
- Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesisLi Ma
Cancer Biology and Genetics Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Cell 121:179-93. 2005Tuberous 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)...
- TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligaseHuira Chong-Kopera
Life Sciences Institute, Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan 48109, USA
J Biol Chem 281:8313-6. 2006..The TSC1 and TSC2 proteins, also called hamartin and tuberin, respectively, have been shown to regulate cell growth through inhibition of the mammalian target of ..
- Bile acid exposure up-regulates tuberous sclerosis complex 1/mammalian target of rapamycin pathway in Barrett's-associated esophageal adenocarcinomaChia Jui Yen
Department of Molecular and Cellular Oncology, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
Cancer Res 68:2632-40. 2008..inflammation-associated signaling pathway involving I kappaB kinases beta (IKK beta), tuberous sclerosis complex 1 (TSC1), and mammalian target of rapamycin (mTOR) downstream effector S6 kinase (S6K1) was confirmed to be activated in ..
- Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2Elena A Goncharova
Pulmonary, Allergy and Critical Care Division, Department of Medicine, University of Pennsylvania, 421 Curie Boulevard, BRB II III, Philadelphia, PA 19104 6160, USA
Am J Respir Cell Mol Biol 34:561-72. 2006The TSC1 and TSC2 proteins, which function as a TSC1/TSC2 tumor suppressor complex, are associated with lymphangioleiomyomatosis (LAM), a genetic disorder characterized by the abnormal growth of smooth muscle-like cells in the lungs...
- Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au
Department of Pediatrics, The University of Texas Medical School at Houston, 77030, USA
Genet Med 9:88-100. 2007..We identified mutations in 72% (199/257) of de novo and 77% (53/68) of familial cases, with 17% of mutations in the TSC1 gene and 50% in the TSC2 gene. There were 4% unclassified variants and 29% with no mutation identified...
- Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and BM G Catania
Department of Pathology and Laboratory Medicine UCLA Medical Center, Los Angeles, California 90095 1732, USA
J Neuropathol Exp Neurol 60:711-23. 2001..TSC is associated with mutations in 2 genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively. The functions of these proteins have yet to be determined...
- Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlationsPiotr Kozlowski
Genetics Laboratory, Division of Translational Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Genet 121:389-400. 2007Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Point mutations and small indels account for most TSC1 and TSC2 mutations...
- Tuberous sclerosis complex: disease modifiers and treatmentsKit Sing Au
Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA
Curr Opin Pediatr 20:628-33. 2008..The two causative genes, TSC1 and TSC2, which code for hamartin and tuberin respectively, play central roles in regulating cell survival and proliferation signaling pathways...
- Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activationJennifer A Chan
Division of Neuropathology, Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
J Neuropathol Exp Neurol 63:1236-42. 2004..of biallelic mutation of TSC1 or TSC2, suggesting that SEGAs develop due to complete loss of a functional tuberin-hamartin complex...
- Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosisUmut Ozcan
Department of Genetics and Complex Diseases, Harvard School of Public Health, Harvard University, Boston, MA 02115, USA
Mol Cell 29:541-51. 2008..Loss of the tuberous sclerosis complex genes (TSC1 or TSC2) leads to constitutive activation of mTOR and downstream signaling elements, resulting in the development ..
- Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis ComplexOzgur Sancak
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
Eur J Hum Genet 13:731-41. 2005..TSC is caused by mutations in either the TSC1 or TSC2 gene...
- Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complexH Zhang
Gene Research Center, Tottori University, Yonago, Japan
J Hum Genet 44:391-6. 1999We have surveyed the mutations of TSC1 and TSC2 from 38 (25 sporadic, 11 familial, and 2 unknown) Japanese patients with tuberous sclerosis complex...
- Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosisY Niida
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
Hum Mutat 14:412-22. 1999..With the cloning of two causative genes, TSC1 and TSC2 it is now possible to analyze both genes in TSC patients and identify germline mutations...
- Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosisA C Jones
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, UK
Hum Mol Genet 6:2155-61. 1997..3 whilst the TSC1 gene, predicted to encode a novel protein termed hamartin, has recently been cloned from 9q34...
- Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanismsLouis S Pymar
Cancer Research UK Clinical Centre in Leeds, Leeds Institute for Molecular Medicine, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
Hum Mol Genet 17:2006-17. 2008More than 50% of transitional cell carcinomas of the bladder show loss of heterozygosity of a region spanning the TSC1 locus at 9q34 and mutations of TSC1 have been identified in 14.5% of tumours...
- Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutationsY Yamashita
Department of Experimental Pathology, Cancer Institute, Tokyo, Japan
Am J Med Genet 90:123-6. 2000..All mutations were expected to result in a truncated hamartin gene product...
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene productsM van Slegtenhorst
MGC Department of Clinical Genetics, Erasmus University, 3015GE Rotterdam, The Netherlands
Hum Mol Genet 7:1053-7. 1998..The TSC1 gene was recently identified and codes for hamartin, a novel protein with no significant homology to tuberin or any other known vertebrate protein...
- Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationM van Slegtenhorst
MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
J Med Genet 36:285-9. 1999Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or TSC2 gene...
- Missense mutations to the TSC1 gene cause tuberous sclerosis complexMark Nellist
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
Eur J Hum Genet 17:319-28. 2009..The disease is caused by mutations in either the TSC1 gene on chromosome 9q34 or the TSC2 gene on chromosome 16p13.3...
- Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetranceJ Kwiatkowska
Division of Experimental Medicine and Medical Oncology, Brigham and Women s Hospital, Boston, MA 02115, USA
Ann Hum Genet 62:277-85. 1998We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without ..
- Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesiclesT L Plank
Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
Cancer Res 58:4766-70. 1998Tuberous sclerosis is an inherited syndrome associated with mutations in two tumor suppressor genes: TSC1 and TSC2...
- Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34M van Slegtenhorst
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands
Science 277:805-8. 1997..In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
- Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2Attila Garami
Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, 4058 Basel, Switzerland
Mol Cell 11:1457-66. 2003b>Tumor suppressor genes evolved as negative effectors of mitogen and nutrient signaling pathways, such that mutations in these genes can lead to pathological states of growth...
- Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin BAristotelis Astrinidis
Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
J Biol Chem 278:51372-9. 2003Tuberous sclerosis complex is a tumor suppressor gene syndrome whose manifestations can include seizures, mental retardation, and benign tumors of the brain, skin, heart, and kidneys...
- Human bladder tumors with 2-hit mutations of tumor suppressor gene TSC1 and decreased expression of p27Hiroyuki Adachi
Department of Urology, Shimane Medical University, Izumo, Japan
J Urol 170:601-4. 2003..chromosome 9 is known to be the most common finding in human bladder tumors, we studied the mutation of the tumor suppressor gene TSC1 (chromosome 9q34) in bladder tumors. Since another tumor suppressor gene, TSC2 (chromosome 16p13...
- Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberinYuji Yamamoto
Department of Surgery, University of Washington, 1959 NE Pacific St, Box 356410, Seattle, WA 98195, USA
Arch Biochem Biophys 404:210-7. 2002..The function of the gene products, hamartin and tuberin, is not well understood but we have previously suggested a role in vesicular transport...
- Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activityYong Li
Life Sciences Institute, Department of Biological Chemistry, University of Michigan, Ann Arbor 48109 0606, USA
Mol Cell Biol 24:7965-75. 2004Tuberous sclerosis complex (TSC) is a genetic disease caused by a mutation in either the tsc1 or tsc2 tumor suppressor gene...
- Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent mannerAristotelis Astrinidis
Fox Chase Cancer Center, Philadelphia, PA 19111, USA
Hum Mol Genet 15:287-97. 2006Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome caused by mutations in TSC1 and TSC2. Hamartin and tuberin, the products of TSC1 and TSC2, respectively, form heterodimers and inhibit the mammalian target of rapamycin...
- Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioningSheng Li Cai
Department of Carcinogenesis, University of Texas MD Anderson Cancer Center, Smithville, 78957, USA
J Cell Biol 173:279-89. 2006..Thus, tuberin bound by 14-3-3 in response to AKT phosphorylation is sequestered away from its membrane-bound activation partner (hamartin) and its target GTPase (Rheb) to relieve the growth inhibitory effects of this tumor suppressor.
- Tuberous sclerosis complex (TSC) gene involvement in sporadic tumoursM A Knowles
Cancer Research UK Clinical Centre, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
Biochem Soc Trans 31:597-602. 2003In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions...
- Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberinA K Hodges
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 10:2899-905. 2001Critical functions of hamartin and tuberin, encoded by the TSC1 and TSC2 genes, are likely to be closely linked...
- TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complexM Nellist
Department of Clinical Genetics, Erasmus University, 3015 GE Rotterdam, The Netherlands
Hum Mol Genet 10:2889-98. 2001..TSC1 and TSC2 encode two large novel proteins called hamartin and tuberin, respectively...
- Aspects of tuberous sclerosis complex (TSC) protein function in the brainV Ramesh
Molecular Neurogenetics Unit, Massachusetts General Hospital, Building 149, 13th Street, Charlestown, MA 02129, USA
Biochem Soc Trans 31:579-83. 2003..We have shown that hamartin interacts with neurofilament light chain (NF-L) and could integrate the neuronal cytoskeleton through its direct ..
- Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberinHan C Dan
Department of Pathology, Molecular Oncology, and Drug Discovery Programs, University of South Florida College of Medicine, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida 33612, USA
J Biol Chem 277:35364-70. 2002Normal cellular functions of hamartin and tuberin, encoded by the TSC1 and TSC2 tumor suppressor genes, are closely related to their direct interactions...
- Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinasePhilippe P Roux
Department of Cell Biology and Taplin Biological Mass Spectrometry Facility, Harvard Medical School, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 101:13489-94. 2004Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either of the two tumor suppressor genes TSC1 or TSC2, which encode hamartin and tuberin, respectively...
- Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsS L Dabora
Genetics Laboratory, Division of Hematology, Brigham and Women s Hospital, Boston, MA, 02115, USA
Am J Hum Genet 68:64-80. 2001Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2...
- Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartinM Nellist
Department of Clinical Genetics, Erasmus University, 3015 GE Rotterdam, The Netherlands
J Biol Chem 274:35647-52. 1999..Mutations to either the TSC1 or TSC2 gene are responsible for the disease. The TSC1 gene encodes hamartin, a 130-kDa protein without significant homology to other known mammalian proteins...
- Molecular genetics of renal carcinogenesisC Walker
The University of Texas MD Anderson Cancer Center, Science Park Research Division, Smithville 78957, USA
Toxicol Pathol 26:113-20. 1998..Solid RCC of the clear cell type is associated with alterations in the VHL tumor suppressor gene and hereditary papillary RCC is associated with alterations of the c-met protooncogene...
- [The main etiopathogenic mechanisms of neurocutaneous diseases]F J Vicente
, , Facultadde Medicina, Universidad de Navarra, Pamplona,
Rev Neurol 25:S214-21. 1997..Mutations in tumor suppressor genes play an important part in the development of hamartomatous and neoplastic lesions in neurofibromatosis ..
- Analysis of a polymorphism in the tuberous sclerosis (TSC2) gene does not predispose to schizophreniaR Przkora
Department of Neuropathology, University of Bonn Medical Center, Germany
Eur Arch Psychiatry Clin Neurosci 248:314-5. 1998The tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of malformations in various organs including the brain...
- Sensitivity of soft tissue sarcoma cell lines to chemotherapeutic agents: identification of ecteinascidin-743 as a potent cytotoxic agentW W Li
Laboratories of Molecular Pharmacology, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Clin Cancer Res 7:2908-11. 2001..Cell lines were also characterized as to expression of oncogenes and tumor suppressor genes to attempt to correlate sensitivity of these cell lines to ET-743 and other chemotherapeutic agents...
- Oncogenes and tumor suppressor genesG Klein
Department of Tumor Biology, Karolinska Institute, Stockholm, Sweden
Acta Oncol 27:427-37. 1988..DNA binding proteins, presumably involved in DNA replication may drive cell division after constitutive activation by retroviral insertion, chromosomal translocation or gene amplification (example: the myc-family)...
- Mutations in adrenocortical tumorsM Reincke
Medical Department II, University of Freiburg, Germany
Horm Metab Res 30:447-55. 1998..Oncogenes and tumor suppressor genes involved in adrenal carcinomas include mutations in the p53 tumor suppressor gene and rearrangements of ..
- Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literatureAndrew L Folpe
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 30322, USA
Am J Surg Pathol 29:1558-75. 2005..of tumors includes angiomyolipoma (AML), clear cell sugar tumor of the lung (CCST), lymphangioleiomyomatosis (LAM), and very rare tumors in other locations...
- Spontaneous mutation of cell oncogenes plays a minor role in neoplastic transformation of virus-induced murine T-cell lymphomasD Gasparotto
Department of Experimental Oncology 1, Centro di Riferimento Oncologico, Aviano (PN, Italy
Tumori 81:268-72. 1995..However, molecular phenomena not strictly virus-determined, such as mutations in cellular oncogenes/tumor suppressor genes or chromosome aberrations, have been hypothesized to contribute to the achievement of the fully ..
- [Abnormalities of the p53, N-ras, DCC and FLT-3 genes in myelodysplastic syndromes]K Nakamura
Department of 3rd Internal Medicine, Nippon Medical School, Tokyo, Japan
J Nippon Med Sch 68:143-8. 2001..is a multistep process that is characterized by both activation of oncogenes and inactivation of tumor suppressor genes...
- 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 tumorsChelsey Woodrum
Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Building, Boston, MA, USA
J Transl Med 8:14. 2010Tuberous 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...
- Rare loss of heterozygosity of the MTS1 and MTS2 tumor suppressor genes in differentiated human thyroid cancerK M Schulte
Dept. of General and Trauma Surgery, Heinrich Heine University, , Germany
Horm Metab Res 30:549-54. 1998Loss of heterozygosity (LOH) of the MTS1 (p16) tumor suppressor gene has been reported to occur frequently in thyroid cancer cell lines...
- Genetic and clinical characteristics of multiple endocrine neoplasia type 1B Skogseid
Department of Internal Medicine, University Hospital, Ludwig Institute for Cancer Research, Uppsala, Sweden
Acta Oncol 30:485-8. 1991..pancreatic endocrine and parathyroid tissue, which suggests that the MEN 1 gene belongs to the group of tumor suppressor genes (antioncogenes)...
- Molecular genetics and human prostatic carcinomaV P Collins
Ludwig Institute for Cancer Research, Karolinska Hospital, Stockholm, Sweden
Acta Oncol 30:181-5. 1991..Such genes have been named tumor suppressor genes...
- [Induction of gene expression of cancer-related genes by environmental stresses]H Matsumoto
Department of Anatomy, Nara Medical University
Biol Sci Space 8:94-102. 1994....
- Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosisLisa 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..perivascular epithelioid cell tumors (PEComas), including angiomyolipomas (AMLs) and lymphangioleiomyomatosis (LAM)...
- Loss of heterozygosity on tuberous sclerosis complex genes in multifocal micronodular pneumocyte hyperplasiaTakuo Hayashi
Department of Human Pathology, Juntendo University School of Medicine, Tokyo, Japan
Mod Pathol 23:1251-60. 2010..pneumocyte hyperplasia is a rare pulmonary manifestation of tuberous sclerosis complex (TSC) that is a tumor suppressor gene disorder characterized by many hamartomas...
- Meta analysis of the relationship between tuberous sclerosis complex and renal cell carcinomaR Tello
Department of Radiology, Brigham and Women s Hospital, Boston, MA 02115, USA
Eur J Radiol 27:131-8. 1998The association of angiomyolipoma with tuberous sclerosis complex (TSC) patients is well recognised...
- Loss of heterozygosity involves multiple tumor suppressor genes in human esophageal cancersY Huang
Department of Microbiology and Immunology, University of Maryland, Baltimore 21201
Cancer Res 52:6525-30. 1992..The targets of frequent or consistent subchromosomal deletions are believed to be tumor suppressor genes...
- Biallelic TSC gene inactivation in tuberous sclerosis complexPeter B Crino
Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
Neurology 74:1716-23. 2010A pivotal developmental question is whether tubers in tuberous sclerosis complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations...
- Antitumor activity- and gene expression-based profiling of ecteinascidin Et 743 and phthalascidin Pt 650E J Martinez
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA
Chem Biol 8:1151-60. 2001..In HCT116 carrying the wild-type p53 tumor suppressor gene, the up-regulation of several p53-responsive genes was evident...
- Frequent loss of heterozygosity at the retinoblastoma locus in human esophageal cancersR F Boynton
Department of Medicine, Gastroenterology Division, University of Maryland, Baltimore
Cancer Res 51:5766-9. 1991Abnormalities in the retinoblastoma tumor suppressor gene (Rb) have been observed in a large number of human cancers. Loss of heterozygosity is a common mode of allelic inactivation of Rb and other tumor suppressor genes...
- Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomasShaowei 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..with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation...
- Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubesMitsunori Miyazaki
Center for Muscle Biology, Department of Physiology, University of Kentucky, Lexington, USA
FEBS J 277:2180-91. 2010..We found that IGF-1 treatment does not affect complex formation between TSC1 and TSC2, but rather IGF-1 induces an altered distribution of the TSC1/TSC2 complex in C2C12 myotubes...
- The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathwayTiffiney R Hartman
Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA 19090, USA
Hum Mol Genet 18:151-63. 2009Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome in which severe renal cystic disease can occur...
- Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasiaP S Chandra
Division of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
Neurology 68:438-45. 2007In children with and without infantile spasms, this study determined brain volumes and cell densities in epilepsy surgery patients with tuberous sclerosis complex (TSC) and cortical dysplasia with balloon cells (CD).
- Interferon beta augments tuberous sclerosis complex 2 (TSC2)-dependent inhibition of TSC2-null ELT3 and human lymphangioleiomyomatosis-derived cell proliferationElena A Goncharova
Department of Medicine, University of Pennsylvania, TRL Suite 1200, 125 South 31st Street, Philadelphia, PA 19104, USA
Mol Pharmacol 73:778-88. 2008..Mutational inactivation of tumor suppressor tuberous sclerosis complex 2 (TSC2) in LAM constitutively activates the mammalian target of rapamycin (mTOR)/..
- Lymphangioleiomyomatosis and tuberous sclerosis complexDimitrios Chorianopoulos
1st Department of Respiratory Medicine, University of Athens Medical School, Sotiria General Hospital, Athens, Greece
Lung 186:197-207. 2008..TSC is caused by mutations in two genes, TSC1 on chromosome 9q34 and TSC2 on 16p13. Both of these genes are tumor suppressor genes encoding hamartin (TSC1) and tuberin (TSC2)...
- CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosisNilo A Avila
Radiology Service, Washington D C Veterans Affairs Medical Center, 50 Irving St NW, Room BH 223, Washington, DC 20422, USA
Radiology 254:851-7. 2010..if sclerotic bone lesions evident at body computed tomography (CT) are of value as a diagnostic criterion of tuberous sclerosis complex (TSC) and in the differentiation of TSC with lymphangioleiomyomatosis (LAM) from sporadic LAM.
- Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosisD N Franz
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
Am J Respir Crit Care Med 164:661-8. 2001..TSC2 mutations were identified in all cyst-positive patients who were tested (n = 8), whereas both TSC1 and TSC2 mutations were found in patients with nodular disease...
- Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosisT Carsillo
Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia PA 19111, USA
Proc Natl Acad Sci U S A 97:6085-90. 2000..TSC2 loss of heterozygosity in 7 of 13 (54%) of angiomyolipomas from sporadic LAM patients, suggesting that LAM and TSC could have a common genetic basis...
- Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literatureM E A P M Adriaensen
Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands
Eur J Neurol 16:691-6. 2009To investigate the prevalence of subependymal giant cell ependymomas (SEGA) in patients with tuberous sclerosis complex (TSC).
- Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressorsJingxiang Huang
Department of Genetics and Complex Diseases, Harvard School of Public Health, Massachusetts General Hospital, Boston, Massachusetts 02115, USA
Cancer Res 69:6107-14. 2009Mutations in the TSC1 and TSC2 tumor suppressor genes give rise to the neoplastic disorders tuberous sclerosis complex (TSC) and lymphangioleiomyomatosis...
- The tuberous sclerosis complex (TSC) pathway and mechanism of size controlC J Potter
Howard Hughes Medical Institute, Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA
Biochem Soc Trans 31:584-6. 2003..PTEN (phosphatase and tensin homologue deleted on chromosome 10), and the tuberous sclerosis complex (TSC) genes, Tsc1 and Tsc2...
- Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequencesDiane Seibert
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
Ann Intern Med 154:806-13, W-294. 2011..lesions commonly manifest in early childhood, but some findings, notably renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM), emerge later, placing adults with undiagnosed TSC at increased risk for morbidity and mortality.
- Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI-779) and interferon-gamma, and comparison of rapamycin to CCI-779Michael P Messina
Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Family Research Laboratories, Boston, MA, USA
BMC Pharmacol 7:14. 2007..TSC is caused by a mutation in either the TSC1 or TSC2 genes, whose products, hamartin and tuberin, function as negative regulators in the highly-conserved mammalian target of rapamycin (mTOR) ..
- The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partnersMargit Rosner
Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Wahringer Gurtel 18 20, Vienna, Austria
Mutat Res 658:234-46. 2008Mutations in the tumor suppressor genes TSC1 and TSC2, encoding hamartin and tuberin, respectively, cause the tumor syndrome tuberous sclerosis with similar phenotypes...
- MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor developmentShaowei Li
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
J Exp Med 202:617-24. 2005Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes...
- Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complexCatherine J Chu-Shore
Carol and James Herscot Center for Tuberous Sclerosis Complex, 175 Cambridge Street, Suite 340, Boston, MA 02114, USA
Neurology 72:1165-9. 2009Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of hamartomatous lesions in multiple organs, including tubers in the brain. The majority of patients with TSC have epilepsy...
- Therapeutic targeting of mTOR in tuberous sclerosisJulian R Sampson
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Biochem Soc Trans 37:259-64. 2009..Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 ..
- Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutationPaulina Rok
Department of Child Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
Med Sci Monit 11:CR230-234. 2005..TSC is caused by mutations in either of two tumor suppressor genes: TSC1 or TSC2...
- Cells derived from tuberous sclerosis show a prolonged S phase of the cell cycle and increased apoptosisM Wataya-Kaneda
Department of Dermatology, Osaka University Graduate School of Medicine, Suita City, Osaka, Japan
Arch Dermatol Res 293:460-9. 2001..Although the disease-determining genes TSC1 and TSC2 have been isolated, the molecular pathogenesis of the disease is not understood...
- [The results of recent research in neurocutaneous syndromes]K Ohno
Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine, Yonago
No To Hattatsu 30:109-14. 1998..Evidence suggests that these genes are tumor suppressor genes...
- Prognostic factors in squamous cell carcinomas of the head and neckM Liu
Department of ENT, Institute Therasse University Clinics of Mont-Godinne, Yvoir, Belgium
Acta Otorhinolaryngol Belg 53:155-60. 1999....
- Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic reviewDorota Dworakowska
Barts and the London School of Medicine, Centre for Endocrinology, London EC1M 6BQ, UK
Endocr Relat Cancer 16:45-58. 2009..3, which encode for hamartin and tuberin respectively...
- Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independentAnja Jaeschke
Cancer Research UK Centre for Cell and Molecular Biology, Institute for Cancer Research, 237 Fulham Road, London SW3 6JB, UK
J Cell Biol 159:217-24. 2002..Principally, such negative control mechanisms are represented by tumor suppressor genes, which normally act to constrain cell proliferation (Macleod, K. 2000. Curr. Opin. Genet. Dev...
- A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinomaCatherine Wilson
Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 14:1839-50. 2005..We detected loss of the wild-type Tsc1 allele and elevated levels of p-mTOR and p-S6 in lesions from Tsc1+/- mice. This new murine model of hamartin deficiency exhibits a more severe phenotype than existing models.
- Tuberous sclerosis complex and epilepsy: recent developments and future challengesGregory L Holmes
Neuroscience Center at Dartmouth, Section of Neurology, Dartmouth Medical School, Hanover, New Hampshire, USA
Epilepsia 48:617-30. 2007..by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2...
- The natural history and treatment of epilepsy in a murine model of tuberous sclerosisEbru Erbayat-Altay
Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, U S A
Epilepsia 48:1470-6. 2007..We previously described a novel model of TSC, due to conditional inactivation of the Tsc1 gene in glia (Tsc1(GFAP)CKO mice), in which mice develop epilepsy and premature death...
- Generation and characterization of monoclonal antibodies against tuberous sclerosis complex 2Oksana Malanchuk
Kyiv National Taras Shevchenko University, Biological Faculty, Kyiv, Ukraine
Hybridoma (Larchmt) 26:259-66. 2007TSC1 and TSC2 are two recently identified tumor suppressor genes encoding hamartin and tuberin, respectively...
- Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberinSeok Hyung Kim
Vanderbilt University, Department of Biological Sciences, Nashville, TN 37232, USA
Dis Model Mech 4:255-67. 2011Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by mutations in either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes...
- Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern IrelandLisa A Devlin
Immunology Day Centre, Royal Victoria Hospital, Belfast, UK
Dev Med Child Neurol 48:495-9. 2006Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively...
- Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complexLing Hui Zeng
Department of Pharmacy, Zhejiang University City College, Hangzhou, Zhejiang 310015, China
Hum Mol Genet 20:445-54. 2011..Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC...
- Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cellsHae Seong Yoon
Center for Molecular and Cellular Toxicology, Division of Pharmacology and Toxicology, College of Pharmacy, The University of Texas at Austin, Texas 78712, USA
Am J Physiol Renal Physiol 286:F417-24. 2004The tuberous sclerosis-2 (Tsc-2) gene is a suppressor of renal tumorigenesis and an early target of reactive oxygen species-induced renal cancer...
- Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutationsNanna D Rendtorff
Department of Medical Genetics, John F Kennedy Institute, Glostrup, Denmark
Hum Mutat 26:374-83. 2005..An inactivating mutation in either of two tumor-suppressor genes-TSC1 and TSC2-is the cause of this syndrome, with TSC2 mutations accounting for 80-90% of all mutations...
- Regulation of the mTOR Pathway By NutrientsDavid M Sabatini; Fiscal Year: 2013..Many cancer-promoting lesions activate the mTORC1 pathway. Most notably, the TSC1-TSC2 tumor suppressor complex--whose inactivation causes Tuberous Sclerosis Complex (TSC) and the related disease ..
- Tuberin &hamartin in rapamycin-sensitive &insensitive smooth muscle cell growthUsamah S Kayyali; Fiscal Year: 2013..Hamartin and tuberin are highly expressed in smooth muscle and are encoded by the tumor suppressor genes, Tuberous Sclerosis Complex-1 and -2 respectively (TSC1;TSC2)...
- The Lymphangioleiomyomatosis (LAM)Genome AtlasDAVID J contact KWIATKOWSKI; Fiscal Year: 2010..The second key objective is to determine the frequency of somatic point and genomic mutations in TSC1 and TSC2 in sporadic LAM, and to determine whether activating mutations in Rheb are associated with sporadic LAM...
- Uterine-specific genetic modification and lymphangioleiomyomatosisJOSE M TEIXEIRA; Fiscal Year: 2012DESCRIPTION (provided by applicant): Lymphangioleiomyomatosis (LAM) is a rare disease primarily found in females and is characterized by a diffuse interstitial infiltrate of atypical smooth muscle cell lesions in the lung parenchyma ..
- 2013 LAM SymposiumFRANCIS XAVIER MCCORMACK; Fiscal Year: 2013DESCRIPTION (provided by applicant): The LAM Foundation 2013 Lymphangioleiomyomatosis International Research Conference will focus on the molecular mechanisms of smooth muscle proliferation and cystic lung destruction that occur in the ..
- Role of Diabetes in Development of Renal Cell CarcinomaSAMY LEWIZ HABIB; Fiscal Year: 2013..One of the tumor suppressor genes involved in renal carcinogenesis is tuberous sclerosis gene (TSC2), which encodes tumor suppressor ..
- Tuberous Sclerosis: Mutations and Murine ModelsDavid J Kwiatkowski; Fiscal Year: 2013Tuberous 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...
- PHASE III TRIAL FO SIROLIMUS IN LYMPHANGIOLEIOMYLMATOSISFrancis McCormack; Fiscal Year: 2009..Functional deficiencies of the encoded products, tuberin or hamartin, result in dysregulated signaling through the Akt pathway which controls cell growth, movement and survival...
- 2013 International Research Conference on Tuberous Sclerosis Complex and RelatedSteven L Roberds; Fiscal Year: 2013..by tuberous sclerosis complex (TSC) and related disorders, including autism, epilepsy, lymphangioleiomyomatosis (LAM), cancer, and rare diseases with overlapping phenotypes...
- Therapeutic Strategy for LAM (Lymphangioleiomyomatosis)TONY EISSA; Fiscal Year: 2013..sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in tuberous sclerosis complex 1 (TSC1) or TSC2...
- Molecular Genetics of Inherited Neurological DiseasesXANDRA OWENS BREAKEFIELD; Fiscal Year: 2012..signaling pathways leading to abnormal neural cell development and growth due to loss of function of tumor suppressor genes...
- Pathogenesis of TSC2-Related TumorsRaymond Yeung; Fiscal Year: 2012..Cell culture and animal models have confirmed that the loss of either one of these two tumor suppressor genes results in hyperactivation of mTOR...
- mTOR signaling and sporadic chordomasSangyeul Han; Fiscal Year: 2010..TSC is an autosomal dominant tumor suppressor syndrome characterized by abnormal tissue growths, known as hamartomas, in several organs...
- SECRETION AND BIOSYNTHESIS OF INSULINMichael L McDaniel; Fiscal Year: 2012..Specific aim 1 is to establish the functions of the GSK-3/TSC/mTOR &the canonical Wnt/GSK-3/2-catenin pathways in primary adult rodent &human islets by A) identifying ..
- Structural consequences of TSC gene mutations in brainPeter B Crino; Fiscal Year: 2012Tuberous 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...
- Role of folliculin (FLCN) in lung cell survivalVera P Krymskaya; Fiscal Year: 2013..of this disease is not known, lung cysts in BHD are linked to autosomal dominant mutational inactivation of tumor suppressor gene folliculin (FLCN)...
- Tuberous Sclerosis Complex Conference: From Genes to New TherapeuticsVICKY WHITTEMORE; Fiscal Year: 2007..diseases to determine what can be learned from work in other research areas Discuss the research on the role of the TSC1/2 genes and their protein products in the mTOR signaling pathway Review our current knowledge of variation of the ..
- Utility of Rapamycin for the Treatment of Renal Angiomy*John Bissler; Fiscal Year: 2004..by well-characterized inactivating mutations at genetic loci that encode the interacting proteins, tuberin or hamartin. Elegant studies have recently elucidated the pivotal role of the tuberin/hamartin complex in the checkpoint ..
- Human Papillomavirus Association with Subsets of Colorectal CancerPolly A Newcomb; Fiscal Year: 2010..HPV promotes oncogenesis via viral proteins E6 and E7. These interfere with tumor suppressor proteins p53 and pRb and induce telomerase, thereby immortalizing cells...
- Sleep and Circadian Rhythms in Tuberous Sclerosis ComplexJONATHAN OREN LIPTON; Fiscal Year: 2013..TSC is a neurogenetic syndrome that results from mutations in either the Tsc1 or Tsc2 genes that cause epilepsy, intellectual disability, and autism...
- TSC Conference: From DNA to Human TherapiesVICKY WHITTEMORE; Fiscal Year: 2009..TSC signaling in the central nervous system (CNS) and in other organ systems; Discuss research on the role of the TSC1/2 genes and their protein products in the mTOR signaling pathway in TSC; Discuss the mTORC1and mTORC2 signaling ..
- High Resolution Mass Spectrometry SystemJohn M Asara; Fiscal Year: 2012..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 characterization of Alzheimer's Disease brain ..
- Role of p70 S6 Kinase in Regulating LAM Cell GrowthVera P Krymskaya; Fiscal Year: 2010..LAM is associated with mutational inactivation of the tumor suppressors tuberous sclerosis complex 1 (TSC1) and TSC2;loss of TSC2, in particular, is correlated with disease severity and tumor growth...
- Analysis of the tumor suppressor gene Tsc1 in motor neuron patterningOnanong Chivatakarn; Fiscal Year: 2013..Ultimately, the knowledge gained has the potential to inform how the tumor suppressor gene TSC1 functions in nervous system development and how perturbation of this pathway can cause the ..
- CNS Manifestations of Tuberous Sclerosis ComplexVICKY WHITTEMORE; Fiscal Year: 2005..The basic biology of LAM indicates that the TSC2, and perhaps the TSC1 gene, play a significant role in LAM, so the last two LAMposiums have included numerous sessions focused on the ..
- Analysis of the Human c-myc Gene Replication OriginMichael Leffak; Fiscal Year: 2012..Errors in the components of the multiprotein replication initiation complex, or the inability of tumor suppressor proteins to resolve blocks to fork movement lead to rearrangements, losses or duplications of DNA, and result ..
- Lymphangioleiomyomatosis Research Conference 2006Francis McCormack; Fiscal Year: 2006unreadable] DESCRIPTION (provided by applicant): [unreadable] [unreadable] The LAM Foundation 2006 Lymphangioleiomyomatosis International Research Conference will focus on the molecular mechanisms of smooth muscle proliferation and ..
- Dissecting the Molecular Pathology of LAM DiseaseDaniel Noonan; Fiscal Year: 2005..4) Characterization of TSC1?s role in the TSC2/calmodulin signaling pathway...
- The 2007 LAM Foundation Lymphangioleiomyomatosis International Research ConferencFrancis McCormack; Fiscal Year: 2007unreadable] DESCRIPTION (provided by applicant): [unreadable] [unreadable] The LAM Foundation 2007 Lymphangioleiomyomatosis International Research Conference will focus on the molecular mechanisms of genetic mutation, metastasis and ..
- MOLECULAR BASIS OF LYMPHANGIOMYOMATOSISELIZABETH HENSKE; Fiscal Year: 2006..Recent work by another group has demonstrated that hamartin (the TSC1 gene product) interacts with the moesin-ezrin-radixin family of cytoskeletal proteins, activates the ..
- Regulation of Dermal Fibroblasts in Skin Regeneration and HealingThomas N Darling; Fiscal Year: 2013..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 equivalents...
- Molecular Pathogenesis of the Hamartoma SyndromesDavid J Kwiatkowski; Fiscal Year: 2013..Genetically, these genes function in classic tumor suppressor gene fashion, with germline inactivation of a single allele, followed by second hit loss of the remaining ..
- The NKCC1 inhibitor bumetanide as a novel therapy in TSCFrances E Jensen; Fiscal Year: 2013..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...
- TSC-mTOR on neuron developmentAngelique Bordey; Fiscal Year: 2013..TSC is caused by mutations in TSC1 or TSC2 leading to mTOR hyperactivity and developmental malformations associated with seizures and worsening of ..
- Roles of autophagy-mediated pathways in the pathogenesis and treatment of TSCElizabeth P Henske; Fiscal Year: 2013DESCRIPTION (provided by applicant): TSC patients develop multi-system disease including benign tumors of the brain, heart, skin and kidney. By age 10, 80% of children with TSC have renal angiomyolipomas and/or renal cysts...
- mTOR modulation of myelinationRobert P Carson; Fiscal Year: 2013..as well as from patient derived imaging data suggesting abnormalities in myelination in Tuberous Sclerosis Complex (TSC)...
- The Role of IKK and NF-kappaB in Controlling mTOR Signaling and TSC ProgressionHancai Dan; Fiscal Year: 2013..TSC is caused by mutation in either the TSC1 or TSC2 gene...
- Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous SclerosisMustafa Sahin; Fiscal Year: 2013..Tuberous Sclerosis Complex (TSC) is a genetic disorder in which approximately 50% of individuals are also affected with ASD...
- Delaying Cone Death in Retinitis PigmentosaClaudio Punzo; Fiscal Year: 2013..the phosphatase and tensin homolog (PTEN) and separately, by deletion of the tuberous sclerosis complex protein 1 (TSC1)...
- Mechanisms Underlying the Cerebellar Contribution to Autism in Mouse Models of TuPeter T Tsai; Fiscal Year: 2013..Tuberous Sclerosis Complex, a genetic disorder caused by mutation in either Tsc1 or Tsc2, has high rates of autism (~50%)...
- MRI Biomarkers of Patients with Tuberous Sclerosis Complex and AutismSimon K Warfield; Fiscal Year: 2013..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 hamartomas, which can ..
- Molecular mechanisms linking early life seizures, autism and intellectual disabilTimothy A Benke; Fiscal Year: 2013..to other genetic forms of ID and autism such as Fragile X (FRAX) with FMRP dysfunction and Tuberous Sclerosis (TSC) with mTOR dysfunction...
- Synaptic Plasticity, Memory and Social BehaviorITZAMARIE CHEVERE TORRES; Fiscal Year: 2010..At the molecular level, mutations of the tumor suppressor genes harmatin and tuberin, also known as tsc1 and tsc2, respectively, have been identified as the cause of ..
- RENAL CYST PATHOGENESIS IN TSC, VHL, AND ADPKDELIZABETH HENSKE; Fiscal Year: 1999..Loss of heterozygosity (LOH) analyses are consistent with a tumor suppressor function for the TSC and VHL genes. The normal role of tumor suppressor genes is to constrain cell growth...
- Potential EEG biomarkers and antiepileptogenic strategies for epilepy in TSCMartina Bebin; Fiscal Year: 2013DESCRIPTION (provided by applicant): Potential EEG biomarkers and antiepileptogenic strategies for epilepsy in TSC Current therapeutic approaches for epilepsy primarily represent symptomatic treatments that suppress seizures, but have ..
- Identifying Epileptogenic Tubers in TSCHarry Chugani; Fiscal Year: 2013..TSC is an autosomal dominant inherited disorder resulting from mutations in at least two different genes, TSC1 and TSC2...
- Roles of Tuberin (TSC2), Hamartin (TSC1), and Rheb in Renal Cyst PathogenesisElizabeth P Henske; Fiscal Year: 2010..sclerosis complex (TSC) is caused by germline inactivating mutations in the TSC1 or TSC2 genes, which encode hamartin (TSC1) and tuberin (TSC2), respectively...
- Allelic Expression Imbalance in Tuberous Sclerosis ComplexVinodh Narayanan; Fiscal Year: 2009..sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by defects in one of two genes, TSC1 or TSC2...
- Novel in vitro and xenograft models to study treatments for tuberous sclerosisThomas Darling; Fiscal Year: 2007unreadable] DESCRIPTION (provided by applicant): Tuberous sclerosis complex (TSC) is a tumor syndrome that affects about 1 in 6000 live births...
- Molecular Etiology of Leiomyoma UteriCheryl 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 for this disease...
- IMAGING TRYPTOPHAN METABOLISM IN TUBEROUS SCLEROSISDiane Chugani; Fiscal Year: 2003..is an autosomal dominant inherited disorder, now known to result from mutations in at least two different genes, TSC1 and TSC2...