Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 8 August 1997:
Vol. 277. no. 5327, pp. 805 - 808
DOI: 10.1126/science.277.5327.805
Prev | Table of Contents | Next

Reports

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Marjon van Slegtenhorst, Ronald de Hoogt, Caroline Hermans, Mark Nellist, Bart Janssen, Senno Verhoef, Dick Lindhout, Ans van den Ouweland, Dicky Halley circle fill Janet Young, Mariwyn Burley, Steve Jeremiah, Karen Woodward, Joseph Nahmias, Margaret Fox, Rosemary Ekong, John Osborne, Jonathan Wolfe, Sue Povey circle fill Russell G. Snell, Jeremy P. Cheadle, Alistair C. Jones, Maria Tachataki, David Ravine, Julian R. Sampson circle fill Mary Pat Reeve, Paul Richardson, Friederike Wilmer, Cheryl Munro, Trevor L. Hawkins circle fill Tiina Sepp, Johari B. M. Ali, Susannah Ward, Andrew J. Green, John R. W. Yates circle fill Jolanta Kwiatkowska, Elizabeth P. Henske, M. Priscilla Short, Jonathan H. Haines, Sergiusz Jozwiak, David J. Kwiatkowski *

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. 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.

The TSC1 Consortium:
M. van Slegtenhorst, R. de Hoogt, C. Hermans, M. Nellist, B. Janssen, S. Verhoef, D. Lindhout, A. van den Ouweland, D. Halley, Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands.
J. Young, M. Burley, S. Jeremiah, K. Woodward, J. Nahmias, M. Fox, R. Ekong, J. Wolfe, S. Povey, MRC Human Biochemical Genetics Unit and Galton Laboratory, University College of London, London NW1 2HE, UK.
J. Osborne, University of Bath, Bath BA2 7AY, UK.
R. G. Snell, J. P. Cheadle, A. C. Jones, M. Tachataki, D. Ravine, J. R. Sampson, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, Wales, UK.
M. P. Reeve, P. Richardson, F. Wilmer, C. Munro, T. L. Hawkins, Whitehead Institute, MIT Center for Genome Research, Cambridge, MA 02139, USA.
T. Sepp, J. B. M. Ali, S. Ward, A. J. Green, J. R. W. Yates, Departments of Pathology and Medical Genetics, University of Cambridge, Addenbrooke's NHS Trust, Cambridge CB2 2QQ, UK.
M. P. Short, Department of Child Neurology, University of Chicago School of Medicine, Chicago, IL 60637, USA.
J. H. Haines, Molecular Neurogenetics Unit, Massachusetts General Hospital, 149 13th Street, Boston, MA 02129, USA.
S. Jozwiak, Division of Child Neurology, Children's Health Center, 04-736 Warsaw, Poland.
J. Kwiatkowska, E. P. Henske, D. J. Kwiatkowski, Division of Experimental Medicine and Medical Oncology, Brigham and Women's Hospital, Boston, MA 02115, USA.
*   To whom correspondence should be addressed. E-mail: kwiatkowski{at}calvin.bwh.harvard.edu

Read the Full Text


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Distinctive Responses to Nitrogen Starvation in the Dominant Active Mutants of the Fission Yeast Rheb GTPase.
T. Murai, Y. Nakase, K. Fukuda, Y. Chikashige, C. Tsutsumi, Y. Hiraoka, and T. Matsumoto (2009)
Genetics 183, 517-527
   Abstract »    Full Text »    PDF »
Utility of [18F]2-Fluoro-2-Deoxyglucose-PET in Sporadic and Tuberous Sclerosis-Associated Lymphangioleiomyomatosis.
L. R. Young, D. N. Franz, P. Nagarkatte, C. D. M. Fletcher, K. A. Wikenheiser-Brokamp, M. D. Galsky, T. C. Corbridge, A. P. Lam, M. J. Gelfand, and F. X. McCormack (2009)
Chest 136, 926-933
   Abstract »    Full Text »    PDF »
Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia.
M. C. Ljungberg, C. N. Sunnen, J. N. Lugo, A. E. Anderson, and G. D'Arcangelo (2009)
Dis. Model. Mech. 2, 389-398
   Abstract »    Full Text »    PDF »
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.
D A Muzykewicz, A Sharma, V Muse, A L Numis, J Rajagopal, and E A Thiele (2009)
J. Med. Genet. 46, 465-468
   Abstract »    Full Text »    PDF »
Renal and liver tumors in Tsc2+/- mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor.
G. A. Finlay, A. J. Malhowski, K. Polizzi, I. Malinowska-Kolodziej, and D. J. Kwiatkowski (2009)
Mol. Cancer Ther. 8, 1799-1807
   Abstract »    Full Text »    PDF »
The Methylation of the TSC2 Promoter Underlies the Abnormal Growth of TSC2 Angiomyolipoma-Derived Smooth Muscle Cells.
E. Lesma, S. M. Sirchia, S. Ancona, S. Carelli, S. Bosari, F. Ghelma, E. Montanari, A. M. Di Giulio, and A. Gorio (2009)
Am. J. Pathol. 174, 2150-2159
   Abstract »    Full Text »    PDF »
Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.
K. Inoki and K.-L. Guan (2009)
Hum. Mol. Genet. 18, R94-R100
   Abstract »    Full Text »    PDF »
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.
S. W. Way, J. McKenna III, U. Mietzsch, R. M. Reith, H. C.-j. Wu, and M. J. Gambello (2009)
Hum. Mol. Genet. 18, 1252-1265
   Abstract »    Full Text »    PDF »
Unusual Radiological Presentation of Tuberous Sclerosis Complex With Leptomeningeal Angiomatosis Associated With a Hypomorphic Mutation in the TSC2 Gene.
G. Ramantani, P. Niggemann, G. Hahn, A. Nake, R. Fahsold, and M. A. Lee-Kirsch (2009)
J Child Neurol 24, 333-337
   Abstract »    PDF »
Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review.
D. Dworakowska and A. B Grossman (2009)
Endocr. Relat. Cancer 16, 45-58
   Abstract »    Full Text »    PDF »
CHAPTER 20 Tumours of the Heart.
G. Thiene, M. Valente, M. Lombardi, and C. Basso (2009)
ESC Textbook of Cardiovascular Medicine 2, med-9780199566990-chapter
   Abstract »    Full Text »    PDF »
Pictorial Review of Tuberous Sclerosis in Various Organs.
S. Umeoka, T. Koyama, Y. Miki, M. Akai, K. Tsutsui, and K. Togashi (2008)
RadioGraphics 28, e32
   Abstract »    Full Text »    PDF »
Using Neurofibromatosis-1 to Better Understand and Treat Pediatric Low-Grade Glioma.
D. H. Gutmann (2008)
J Child Neurol 23, 1186-1194
   Abstract »    PDF »
TSC-mTOR maintains quiescence and function of hematopoietic stem cells by repressing mitochondrial biogenesis and reactive oxygen species.
C. Chen, Y. Liu, R. Liu, T. Ikenoue, K.-L. Guan, Y. Liu, and P. Zheng (2008)
J. Exp. Med. 205, 2397-2408
   Abstract »    Full Text »    PDF »
Pictorial Review of Tuberous Sclerosis in Various Organs.
S. Umeoka, T. Koyama, Y. Miki, M. Akai, K. Tsutsui, and K. Togashi (2008)
RadioGraphics
   Abstract »    Full Text »
Tuberous sclerosis--what's new?.
J. P Osborne, J. Merrifield, and F. J K O'Callaghan (2008)
Arch. Dis. Child. 93, 728-731
   Full Text »    PDF »
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
L. S. Pymar, F. M. Platt, J. M. Askham, E. E. Morrison, and M. A. Knowles (2008)
Hum. Mol. Genet. 17, 2006-2017
   Abstract »    Full Text »    PDF »
Biphasic Response of Pancreatic {beta}-Cell Mass to Ablation of Tuberous Sclerosis Complex 2 in Mice.
Y. Shigeyama, T. Kobayashi, Y. Kido, N. Hashimoto, S.-i. Asahara, T. Matsuda, A. Takeda, T. Inoue, Y. Shibutani, M. Koyanagi, et al. (2008)
Mol. Cell. Biol. 28, 2971-2979
   Abstract »    Full Text »    PDF »
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
F. E. Jansen, O. Braams, K. L. Vincken, A. Algra, P. Anbeek, A. Jennekens-Schinkel, D. Halley, B. A. Zonnenberg, A. van den Ouweland, A. C. van Huffelen, et al. (2008)
Neurology 70, 908-915
   Abstract »    Full Text »    PDF »
Cardiac Neoplasms.
J.-C. M. Walkes, W. R. Smythe, and M. J. Reardon (2008)
Card. Surg. Adult 3, 1479-1510
   Full Text »
Selective Inhibition of Growth of Tuberous Sclerosis Complex 2 Null Cells by Atorvastatin Is Associated with Impaired Rheb and Rho GTPase Function and Reduced mTOR/S6 Kinase Activity.
G. A. Finlay, A. J. Malhowski, Y. Liu, B. L. Fanburg, D. J. Kwiatkowski, and D. Toksoz (2007)
Cancer Res. 67, 9878-9886
   Abstract »    Full Text »    PDF »
p27Kip1 localization depends on the tumor suppressor protein tuberin.
M. Rosner, A. Freilinger, M. Hanneder, N. Fujita, G. Lubec, T. Tsuruo, and M. Hengstschlager (2007)
Hum. Mol. Genet. 16, 1541-1556
   Abstract »    Full Text »    PDF »
Cardiac Myocyte Cell Cycle Control in Development, Disease, and Regeneration.
P. Ahuja, P. Sdek, and W. R. MacLellan (2007)
Physiol Rev 87, 521-544
   Abstract »    Full Text »    PDF »
Molecular Pathogenesis of Lymphangioleiomyomatosis: Lessons Learned from Orphans.
S. C. Juvet, F. X. McCormack, D. J. Kwiatkowski, and G. P. Downey (2007)
Am. J. Respir. Cell Mol. Biol. 36, 398-408
   Abstract »    Full Text »    PDF »
Phosphatidylinositol-3-OH Kinase or RAS Pathway Mutations in Human Breast Cancer Cell Lines.
A. Hollestelle, F. Elstrodt, J. H.A. Nagel, W. W. Kallemeijn, and M. Schutte (2007)
Mol. Cancer Res. 5, 195-201
   Abstract »    Full Text »    PDF »
Neuroanatomical Correlates of Memory Deficits in Tuberous Sclerosis Complex.
K Ridler, J Suckling, N. Higgins, P. de Vries, C. Stephenson, P. Bolton, and E. Bullmore (2007)
Cereb Cortex 17, 261-271
   Abstract »    Full Text »    PDF »
The Tuberous Sclerosis Complex..
P. B. Crino, K. L. Nathanson, and E. P. Henske (2006)
N. Engl. J. Med. 355, 1345-1356
   Full Text »    PDF »
A Defect in Protein Farnesylation Suppresses a Loss of Schizosaccharomyces pombe tsc2+, a Homolog of the Human Gene Predisposing to Tuberous Sclerosis Complex.
Y. Nakase, K. Fukuda, Y. Chikashige, C. Tsutsumi, D. Morita, S. Kawamoto, M. Ohnuki, Y. Hiraoka, and T. Matsumoto (2006)
Genetics 173, 569-578
   Abstract »    Full Text »    PDF »
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.
S.-L. Cai, A. R. Tee, J. D. Short, J. M. Bergeron, J. Kim, J. Shen, R. Guo, C. L. Johnson, K. Kiguchi, and C. L. Walker (2006)
J. Cell Biol. 173, 279-289
   Abstract »    Full Text »    PDF »
Study of the Relationship Between Tuberous Sclerosis Complex and Autistic Disorder.
V. Wong (2006)
J Child Neurol 21, 199-204
   Abstract »    PDF »
Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.
A. Astrinidis, W. Senapedis, and E. P. Henske (2006)
Hum. Mol. Genet. 15, 287-297
   Abstract »    Full Text »    PDF »
Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial.
J. J. Collins, C. Tudor, J. M. Leonard, G. Chuck, and D. N. Franz (2006)
J Child Neurol 21, 53-57
   Abstract »    PDF »
Thematic review series: Lipid Posttranslational Modifications. Farnesyl transferase inhibitors.
A. D. Basso, P. Kirschmeier, and W. R. Bishop (2006)
J. Lipid Res. 47, 15-31
   Abstract »    Full Text »    PDF »
Negative Regulation of TSC1-TSC2 by Mammalian D-Type Cyclins.
S. J. Zacharek, Y. Xiong, and S. D. Shumway (2005)
Cancer Res. 65, 11354-11360
   Abstract »    Full Text »    PDF »
Platelet-Derived Growth Factor-Induced p42/44 Mitogen-Activated Protein Kinase Activation and Cellular Growth Is Mediated by Reactive Oxygen Species in the Absence of TSC2/Tuberin.
G. A. Finlay, V. J. Thannickal, B. L. Fanburg, and D. J. Kwiatkowski (2005)
Cancer Res. 65, 10881-10890
   Abstract »    Full Text »    PDF »
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
D. J. Kwiatkowski and B. D. Manning (2005)
Hum. Mol. Genet. 14, R251-R258
   Abstract »    Full Text »    PDF »
A Case of Solitary Subependymal Giant Cell Astrocytoma: Two Somatic Hits of TSC2 in the Tumor, without Evidence of Somatic Mosaicism.
T. Ichikawa, A. Wakisaka, S. Daido, S. Takao, T. Tamiya, I. Date, S. Koizumi, and Y. Niida (2005)
J. Mol. Diagn. 7, 544-549
   Abstract »    Full Text »    PDF »
Pas1, a G1 cyclin, regulates amino acid uptake and rescues a delay in G1 arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe.
M. van Slegtenhorst, A. Mustafa, and E. P. Henske (2005)
Hum. Mol. Genet. 14, 2851-2858
   Abstract »    Full Text »    PDF »
Isolation and Growth of Smooth Muscle-Like Cells Derived from Tuberous Sclerosis Complex-2 Human Renal Angiomyolipoma: Epidermal Growth Factor Is the Required Growth Factor.
E. Lesma, V. Grande, S. Carelli, D. Brancaccio, M. P. Canevini, R. M. Alfano, G. Coggi, A. M. Di Giulio, and A. Gorio (2005)
Am. J. Pathol. 167, 1093-1103
   Abstract »    Full Text »    PDF »
The Farnesyl Transferase Inhibitor (FTI) SCH66336 (lonafarnib) Inhibits Rheb Farnesylation and mTOR Signaling: ROLE IN FTI ENHANCEMENT OF TAXANE AND TAMOXIFEN ANTI-TUMOR ACTIVITY.
A. D. Basso, A. Mirza, G. Liu, B. J. Long, W. R. Bishop, and P. Kirschmeier (2005)
J. Biol. Chem. 280, 31101-31108
   Abstract »    Full Text »    PDF »
Proton Spectroscopic Findings in Children With Epilepsy Owing to Tuberous Sclerosis Complex.
Z. Yapici, A. Dincer, and M. Eraksoy (2005)
J Child Neurol 20, 517-522
   Abstract »    PDF »
Proton Spectroscopic Findings in Children With Epilepsy Owing to Tuberous Sclerosis Complex.
Z. Yapici, A. Dincer, and M. Eraksoy (2005)
J Child Neurol 20, 517-522
   Abstract »    PDF »
Signaling by Target of Rapamycin Proteins in Cell Growth Control.
K. Inoki, H. Ouyang, Y. Li, and K.-L. Guan (2005)
Microbiol. Mol. Biol. Rev. 69, 79-100
   Abstract »    Full Text »    PDF »
Transgenic Expression of Dominant Negative Tuberin through a Strong Constitutive Promoter Results in a Tissue-specific Tuberous Sclerosis Phenotype in the Skin and Brain.
B. Govindarajan, D. J. Brat, M. Csete, W. D. Martin, E. Murad, K. Litani, C. Cohen, F. Cerimele, M. Nunnelley, B. Lefkove, et al. (2005)
J. Biol. Chem. 280, 5870-5874
   Abstract »    Full Text »    PDF »
Tuberin Binds p27 and Negatively Regulates Its Interaction with the SCF Component Skp2.
M. Rosner and M. Hengstschlager (2004)
J. Biol. Chem. 279, 48707-48715
   Abstract »    Full Text »    PDF »
Topical Review: Cognitive and Behavioral Correlates of Tuberous Sclerosis Complex.
C. M. Zaroff, O. Devinsky, D. Miles, and W. B. Barr (2004)
J Child Neurol 19, 847-852
   Abstract »    PDF »
Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.
F. E. Jansen, R. G.E. Notenboom, M. Nellist, M. A. Goedbloed, D. J. Halley, P. N.E. de Graan, and O. van Nieuwenhuizen (2004)
Neurology 63, 1293-1295
   Abstract »    Full Text »    PDF »
Diagnosis of Tuberous Sclerosis Complex.
E. S. Roach and S. P. Sparagana (2004)
J Child Neurol 19, 643-649
   Abstract »    PDF »
Managing Epilepsy in Tuberous Sclerosis Complex.
E. A. Thiele (2004)
J Child Neurol 19, 680-686
   Abstract »    PDF »
Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside.
K.-S. Au, A. T. Williams, M. J. Gambello, and H. Northrup (2004)
J Child Neurol 19, 699-709
   Abstract »    PDF »
Aberrant Cellular Differentiation and Migration in Renal and Pulmonary Tuberous Sclerosis Complex.
A. Astrinidis and E. Petri Henske (2004)
J Child Neurol 19, 710-715
   Abstract »    PDF »
Molecular Pathogenesis of Tuber Formation in Tuberous Sclerosis Complex.
P. B. Crino (2004)
J Child Neurol 19, 716-725
   Abstract »    PDF »
Mouse Models of Tuberous Sclerosis Complex.
D. K. Scheidenhelm and D. H. Gutmann (2004)
J Child Neurol 19, 726-733
   Abstract »    PDF »
Human Papillomavirus 16 E6 Oncoprotein Interferences with Insulin Signaling Pathway by Binding to Tuberin.
Z. Lu, X. Hu, Y. Li, L. Zheng, Y. Zhou, H. Jiang, T. Ning, Z. Basang, C. Zhang, and Y. Ke (2004)
J. Biol. Chem. 279, 35664-35670
   Abstract »    Full Text »    PDF »
Upstream and downstream of mTOR.
N. Hay and N. Sonenberg (2004)
Genes & Dev. 18, 1926-1945
   Abstract »    Full Text »    PDF »
The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins.
L. S. Harrington, G. M. Findlay, A. Gray, T. Tolkacheva, S. Wigfield, H. Rebholz, J. Barnett, N. R. Leslie, S. Cheng, P. R. Shepherd, et al. (2004)
J. Cell Biol. 166, 213-223
   Abstract »    Full Text »    PDF »
Regulation of B-Raf Kinase Activity by Tuberin and Rheb Is Mammalian Target of Rapamycin (mTOR)-independent.
M. Karbowniczek, T. Cash, M. Cheung, G. P. Robertson, A. Astrinidis, and E. P. Henske (2004)
J. Biol. Chem. 279, 29930-29937
   Abstract »    Full Text »    PDF »
Critical Role of T-Loop and H-Motif Phosphorylation in the Regulation of S6 Kinase 1 by the Tuberous Sclerosis Complex.
O. J. Shah and T. Hunter (2004)
J. Biol. Chem. 279, 20816-20823
   Abstract »    Full Text »    PDF »
Genetic Basis of Developmental Malformations of the Cerebral Cortex.
G. H. Mochida and C. A. Walsh (2004)
Arch Neurol 61, 637-640
   Abstract »    Full Text »    PDF »
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
P S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, and D J Kwiatkowski (2004)
J. Med. Genet. 41, e69
   Full Text »    PDF »
Topical Review : Neuropsychiatric Problems in Tuberous Sclerosis Complex.
M. R. Asato and A. Y. Hardan (2004)
J Child Neurol 19, 241-249
   Abstract »    PDF »
Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe.
M. van Slegtenhorst, E. Carr, R. Stoyanova, W. D. Kruger, and E. P. Henske (2004)
J. Biol. Chem. 279, 12706-12713
   Abstract »    Full Text »    PDF »
Genotype and psychological phenotype in tuberous sclerosis.
J C Lewis, H V Thomas, K C Murphy, and J R Sampson (2004)
J. Med. Genet. 41, 203-207
   Full Text »    PDF »
Phosphorylation of Tuberin as a Novel Mechanism for Somatic Inactivation of the Tuberous Sclerosis Complex Proteins in Brain Lesions.
S. Han, T. M. Santos, A. Puga, J. Roy, E. A. Thiele, M. McCollin, A. Stemmer-Rachamimov, and V. Ramesh (2004)
Cancer Res. 64, 812-816
   Abstract »    Full Text »    PDF »
Pam and Its Ortholog Highwire Interact with and May Negatively Regulate the TSC1{middle dot}TSC2 Complex.
V. Murthy, S. Han, R. L. Beauchamp, N. Smith, L. A. Haddad, N. Ito, and V. Ramesh (2004)
J. Biol. Chem. 279, 1351-1358
   Abstract »    Full Text »    PDF »
Cell Cycle-regulated Phosphorylation of Hamartin, the Product of the Tuberous Sclerosis Complex 1 Gene, by Cyclin-dependent Kinase 1/Cyclin B.
A. Astrinidis, W. Senapedis, T. R. Coleman, and E. P. Henske (2003)
J. Biol. Chem. 278, 51372-51379
   Abstract »    Full Text »    PDF »
TOR Signaling.
T. E. Harris and J. C. Lawrence Jr. (2003)
Sci. STKE 2003, re15
   Abstract »    Full Text »    PDF »
Mutation Spectrum of the 9q34 Tuberous Sclerosis Gene TSC1 in Transitional Cell Carcinoma of the Bladder.
M. A. Knowles, T. Habuchi, W. Kennedy, and D. Cuthbert-Heavens (2003)
Cancer Res. 63, 7652-7656
   Abstract »    Full Text »    PDF »
Rheb Binds Tuberous Sclerosis Complex 2 (TSC2) and Promotes S6 Kinase Activation in a Rapamycin- and Farnesylation-dependent Manner.
A. F. Castro, J. F. Rebhun, G. J. Clark, and L. A. Quilliam (2003)
J. Biol. Chem. 278, 32493-32496
   Abstract »    Full Text »    PDF »
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.
S. E. O'Connor, D. J. Kwiatkowski, P. S. Roberts, R. L. Wollmann, and P. R. Huttenlocher (2003)
Neurology 61, 409-412
   Abstract »    Full Text »    PDF »
Tuberous Sclerosis-associated Neoplasms Express Activated p42/44 Mitogen-activated Protein (MAP) Kinase, and Inhibition of MAP Kinase Signaling Results in Decreased in Vivo Tumor Growth.
B. Govindarajan, M. C. Mizesko, M. S. Miller, H. Onda, M. Nunnelly, K. Casper, D. Brat, C. Cohen, and J. L Arbiser (2003)
Clin. Cancer Res. 9, 3469-3475
   Abstract »    Full Text »    PDF »
Amino Acids as Regulators of Gene Expression at the Level of mRNA Translation.
L. S. Jefferson and S. R. Kimball (2003)
J. Nutr. 133, 2046S-2051
   Abstract »    Full Text »    PDF »
Lymphangioleiomyomatosis: A Complex Tale of Serum Response Factor-Mediated Tissue Inhibitor of Metalloproteinase-3 Regulation.
V. P. Krymskaya and J. M. Shipley (2003)
Am. J. Respir. Cell Mol. Biol. 28, 546-550
   Full Text »    PDF »
Malformations of cortical development with balloon cells: Clinical and radiologic correlates.
M. T. Mackay, L. E. Becker, S. H. Chuang, H. Otsubo, N. A. Chuang, J. Rutka, B. Ben-Zeev, O. C. Snead III, and S. K. Weiss (2003)
Neurology 60, 580-587
   Abstract »    Full Text »    PDF »
Renal Angiomyolipomas from Patients with Sporadic Lymphangiomyomatosis Contain Both Neoplastic and Non-Neoplastic Vascular Structures.
M. Karbowniczek, J. Yu, and E. P. Henske (2003)
Am. J. Pathol. 162, 491-500
   Abstract »    Full Text »    PDF »
Cardiac Neoplasms.
M. J. Reardon and W. R. Smythe (2003)
Card. Surg. Adult 2, 1373-1400
   Full Text »
Hereditary Renal Cancers.
P. L. Choyke, G. M. Glenn, M. M. Walther, B. Zbar, and W. M. Linehan (2003)
Radiology 226, 33-46
   Abstract »    Full Text »    PDF »
Exacerbation of pulmonary lymphangioleiomyomatosis by exogenous oestrogen used for infertility treatment.
S Yano (2002)
Thorax 57, 1085-1086
   Abstract »    Full Text »    PDF »
Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system.
S. Momose, T. Kobayashi, H. Mitani, M. Hirabayashi, K. Ito, M. Ueda, Y.-i. Nabeshima, and O. Hino (2002)
Hum. Mol. Genet. 11, 2997-3006
   Abstract »    Full Text »    PDF »
The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton.
L. A. Haddad, N. Smith, M. Bowser, Y. Niida, V. Murthy, C. Gonzalez-Agosti, and V. Ramesh (2002)
J. Biol. Chem. 277, 44180-44186
   Abstract »    Full Text »    PDF »
Identification and Characterization of the Interaction between Tuberin and 14-3-3zeta.
M. Nellist, M. A. Goedbloed, C. de Winter, B. Verhaaf, A. Jankie, A. J. J. Reuser, A. M. W. van den Ouweland, P. van der Sluijs, and D. J. J. Halley (2002)
J. Biol. Chem. 277, 39417-39424
   Abstract »    Full Text »    PDF »
Tuberous sclerosis presenting in late adult life.
M Zarei, V P Collins, S Chandran, D Valler, J N P Higgins, D A S Compston, and J R W Yates (2002)
J. Neurol. Neurosurg. Psychiatry 73, 436-438
   Abstract »    Full Text »    PDF »
Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin.
H. C. Dan, M. Sun, L. Yang, R. I. Feldman, X.-M. Sui, C. C. Ou, M. Nellist, R. S. Yeung, D. J. J. Halley, S. V. Nicosia, et al. (2002)
J. Biol. Chem. 277, 35364-35370
   Abstract »    Full Text »    PDF »
Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells.
L Khare, A Astrinidis, W Senapedis, P D Adams, and E P. Henske (2002)
J. Med. Genet. 39, 676-680
   Full Text »    PDF »
Functional Tyrosine Kinase Inhibitor Profiling : A Generally Applicable Method Points to a Novel Role of Platelet-Derived Growth Factor Receptor-{beta} in Tuberous Sclerosis.
J. L. Arbiser, B. Govindarajan, X. Bai, H. Onda, A. Kazlauskas, S. D. Lim, M. B. Amin, and L. Claesson-Welsh (2002)
Am. J. Pathol. 161, 781-786
   Abstract »    Full Text »    PDF »
Evaluation of Carcinogenic Responses in the Eker Rat following Short-Term Exposure to Selected Nephrotoxins and Carcinogens.
L. D. Morton, A. F. Youssef, E. Lloyd, A. L. Kiorpes, T. L. Goldsworthy, and F. L. Fort (2002)
Toxicol Pathol 30, 559-564
   Abstract »    PDF »
Role of the Tsc1-Tsc2 Complex in Signaling and Transport Across the Cell Membrane in the Fission Yeast Schizosaccharomyces pombe.
S. Matsumoto, A. Bandyopadhyay, D. J. Kwiatkowski, U. Maitra, and T. Matsumoto (2002)
Genetics 161, 1053-1063
   Abstract »    Full Text »    PDF »
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.
D. J. Kwiatkowski, H. Zhang, J. L. Bandura, K. M. Heiberger, M. Glogauer, N. el-Hashemite, and H. Onda (2002)
Hum. Mol. Genet. 11, 525-534
   Abstract »    Full Text »    PDF »
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
M. Nellist, B. Verhaaf, M. A. Goedbloed, A. J.J. Reuser, A. M.W. van den Ouweland, and D. J.J. Halley (2001)
Hum. Mol. Genet. 10, 2889-2898
   Abstract »    Full Text »    PDF »
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
A. K. Hodges, S. Li, J. Maynard, L. Parry, R. Braverman, J. P. Cheadle, J. E. DeClue, and J. R. Sampson (2001)
Hum. Mol. Genet. 10, 2899-2905
   Abstract »    Full Text »    PDF »
Loss of Heterozygosity on Chromosomes 9q and 16p in Atypical Adenomatous Hyperplasia Concomitant with Adenocarcinoma of the Lung.
K. Takamochi, T. Ogura, K. Suzuki, H. Kawasaki, Y. Kurashima, T. Yokose, A. Ochiai, K. Nagai, Y. Nishiwaki, and H. Esumi (2001)
Am. J. Pathol. 159, 1941-1948
   Abstract »    Full Text »    PDF »
Insulin Signaling: Lessons from the Drosophila Tuberous Sclerosis Complex, a Tumor Suppressor.
J. Montagne, T. Radimerski, and G. Thomas (2001)
Sci. STKE 2001, pe36
   Abstract »    Full Text »    PDF »
Meningiomas in Lymphangioleiomyomatosis.
J. Moss, R. DeCastro, N. J. Patronas, and A. Taveira-DaSilva (2001)
JAMA 286, 1879-1881
   Abstract »    Full Text »    PDF »
Chromosome 16 Loss of Heterozygosity in Tuberous Sclerosis and Sporadic Lymphangiomyomatosis.
J. YU, A. ASTRINIDIS, and E. P. HENSKE (2001)
Am. J. Respir. Crit. Care Med. 164, 1537-1540
   Abstract »    Full Text »    PDF »
Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction.
E. Asano, D. C. Chugani, O. Muzik, M. Behen, J. Janisse, R. Rothermel, T. J. Mangner, P. K. Chakraborty, and H. T. Chugani (2001)
Neurology 57, 1269-1277
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)