The Tuberous Sclerosis Complex

Mutation and cancer: statistical study of retinoblastoma

Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612 · see citing works

TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival

Inoki, K., Zhu, T., & Guan, K.-L. (2003) · Cell · doi:10.1016/s0092-8674(03)00929-2 · Cited by 3,914 · see citing works

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

Inoki, K., Li, Y., Xu, T., & Guan, K.-L. (2003) · Genes & Development · doi:10.1101/gad.1110003 · Cited by 1,911 · see citing works

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648 · see citing works

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway

Manning, B. D., Tee, A. R., Logsdon, M. N., Blenis, J., & Cantley, L. C. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00568-3 · Cited by 1,555 · see citing works

Phosphorylation and Functional Inactivation of TSC2 by Erk

Ma, L., Chen, Z., Erdjument-Bromage, H., Tempst, P., & Pandolfi, P. P. (2005) · Cell · doi:10.1016/j.cell.2005.02.031 · Cited by 1,268 · see citing works

Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression

Fingar, D. C., & Blenis, J. (2004) · Oncogene · doi:10.1038/sj.onc.1207542 · Cited by 1,250 · see citing works

Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

Roach, E. S., Gómez, M. R., & Northrup, H. (1998) · Journal of Child Neurology · doi:10.1177/088307389801301206 · Cited by 1,087 · see citing works

The LKB1 tumor suppressor negatively regulates mTOR signaling

Shaw, R. J., Bardeesy, N. M., Manning, B. D., Lopez, L. V., Kosmatka, M., DePinho, R. A., & Cantley, L. C. (2004) · Cancer Cell · doi:10.1016/j.ccr.2004.06.007 · Cited by 1,068 · see citing works

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Dabora, S. L., Jóźwiak, S., Franz, D. N., Roberts, P. S., Nieto, A., Chung, J., Choy, Y.-S., Reeve, M. P., Thiele, E. A., Egelhoff, J. C., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316951 · Cited by 998 · see citing works

Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

Zhang, Y., Gao, X., Saucedo, L. J., Ru, B., Edgar, B. A., & Pan, D. (2003) · Nature Cell Biology · doi:10.1038/ncb999 · Cited by 924 · see citing works

Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase

Roux, P. P., Ballif, B. A., Anjum, R., Gygi, S. P., & Blenis, J. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405659101 · Cited by 750 · see citing works

Rheb promotes cell growth as a component of the insulin/TOR signalling network

Saucedo, L. J., Gao, X., Chiarelli, D. A., Li, L., Pan, D., & Edgar, B. A. (2003) · Nature Cell Biology · doi:10.1038/ncb996 · Cited by 658 · see citing works

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

Carsillo, T., Astrinidis, A., & Henske, E. P. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.11.6085 · Cited by 648 · see citing works

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Franz, D. N., Leonard, J. M., Tudor, C., Chuck, G., Caré, M. M., Sethuraman, G., Dinopoulos, A., Thomas, G., & Crone, K. R. (2006) · Annals of Neurology · doi:10.1002/ana.20784 · Cited by 614 · see citing works

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

van Slegtenhorst, M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.6.1053 · Cited by 565 · see citing works

Causes of Death in Patients With Tuberous Sclerosis

Shepherd, C. W., Gómez, M. R., Lie, J. T., & Crowson, C. S. (1991) · Mayo Clinic Proceedings · doi:10.1016/s0025-6196(12)61196-3 · Cited by 555 · see citing works

The Drosophila Tuberous Sclerosis Complex Gene Homologs Restrict Cell Growth and Cell Proliferation

Tapon, N., Ito, N., Dickson, B. J., Treisman, J. E., & Hariharan, I. K. (2001) · Cell · doi:10.1016/s0092-8674(01)00332-4 · Cited by 542 · see citing works

Rheb is an essential regulator of S6K in controlling cell growth in Drosophila

Stocker, H., Radimerski, T., Schindelholz, B., Wittwer, F., Belawat, P., Daram, P., Breuer, S., Thomas, G., & Hafen, E. (2003) · Nature Cell Biology · doi:10.1038/ncb995 · Cited by 530 · see citing works

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Jones, A. C., Shyamsundar, M. M., Thomas, M. W., Maynard, J. H., Idziaszczyk, S., Tomkins, S. E., Sampson, J. R., & Cheadle, J. P. (1999) · The American Journal of Human Genetics · doi:10.1086/302381 · Cited by 527 · see citing works

Drosophila Tsc1 Functions with Tsc2 to Antagonize Insulin Signaling in Regulating Cell Growth, Cell Proliferation, and Organ Size

Potter, C. J., Huang, H., & Xu, T. (2001) · Cell · doi:10.1016/s0092-8674(01)00333-6 · Cited by 522 · see citing works

Autism and tuberous sclerosis

Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 518 · see citing works

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Brook-Carter, P. T., Peral, B., Ward, C. J., THOMPSON, P. W., Hughes, J. R., Maheshwar, M. M., Nellist, M. D., Gamble, V., Harris, P. C., & Sampson, J. R. (1994) · Nature Genetics · doi:10.1038/ng1294-328 · Cited by 504 · see citing works

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth.Preprint

Gao, X., & Pan, D. (2001) · Genes & Development · doi:10.1101/gad.901101 · Cited by 484 · see citing works

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Sancak, Ő., Nellist, M. D., Goedbloed, M., Elfferich, P., Wouters, C., Maat‐Kievit, A., Zonnenberg, B. A., Verhoef, S., Halley, D. J. J., & van den Ouweland, A. M. W. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201402 · Cited by 480 · see citing works

The NHLBI Lymphangioleiomyomatosis Registry

Ryu, J. H., Moss, J., Beck, G. J., Lee, J.-C., Brown, K. K., Chapman, J. T., Finlay, G. A., Olson, E. J., Ruoss, S. J., MAURER, J. R., et al. (2005) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200409-1298oc · Cited by 466 · see citing works

Tuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 Phosphorylation

Goncharova, E., Goncharov, D. A., Eszterhas, A., Hunter, D., Glassberg, M., Yeung, R. S., Walker, C., Noonan, D., Kwiatkowski, D., Chou, M. M., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m202678200 · Cited by 433 · see citing works

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

Sampson, J., Maheshwar, M. M., Aspinwall, R., THOMPSON, P. W., Cheadle, J. P., Ravine, D., Roy, S., Haan, E., Bernstein, J., & Harris, P. C. (1997) · The American Journal of Human Genetics · doi:10.1086/514888 · Cited by 372 · see citing works

The Tuberous Sclerosis 2 Gene Product, Tuberin, Functions as a Rab5 GTPase Activating Protein (GAP) in Modulating Endocytosis

Xiao, G., Shoarinejad, F., Jin, F., Golemis, E. A., & Yeung, R. S. W. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.10.6097 · Cited by 348 · see citing works

RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX

Ewalt, D. H., Sheffield, E. G., Sparagana, S. P., Delgado, M. R., & Roach, E. S. (1998) · The Journal of Urology · doi:10.1016/s0022-5347(01)63072-6 · Cited by 339 · see citing works

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

Kandt, R. S., Haines, J. L., Smith, M., Northrup, H., Gardner, R. J. M., Short, M. P., Dumars, K., Roach, E. S., Steingold, S., Wall, S. A., et al. (1992) · Nature Genetics · doi:10.1038/ng0992-37 · Cited by 335 · see citing works

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

Lamb, R. F., Roy, C., Diefenbach, T. J., Vinters, H. V., Johnson, M. W., Jay, D. G., & Hall, A. (2000) · Nature Cell Biology · doi:10.1038/35010550 · Cited by 326 · see citing works

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Henske, E. P., Scheithauer, B. W., Short, M. P., Wollmann, R. L., Nahmias, J. A., Hornigold, N., van Slegtenhorst, M., Welsh, C., & Kwiatkowski, D. J. (1996) · PubMed Central · Cited by 324 · see citing works

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex

Joinson, C. J., O'Callaghan, F. J., OSBORNE, J. P., Martyn, C. N., Harris, T., & Bolton, P. (2003) · Psychological Medicine · doi:10.1017/s0033291702007092 · Cited by 299 · see citing works

High Frequency of Pulmonary Lymphangioleiomyomatosis in Women With Tuberous Sclerosis Complex

Costello, L. C., Hartman, T. E., & Ryu, J. H. (2000) · Mayo Clinic Proceedings · doi:10.4065/75.6.591 · Cited by 294 · see citing works

Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis

Franz, D. N., Brody, A. S., Meyer, C. A., Leonard, J. M., Chuck, G., Dabora, S. L., Sethuraman, G., Colby, T. V., Kwiatkowski, D. J., & CORMACK, F. X. M. (2001) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.164.4.2011025 · Cited by 285 · see citing works

Subependymal giant cell tumors in tuberous sclerosis complex

Goh, S., Butler, W. E., & Thiele, E. A. (2004) · Neurology · doi:10.1212/01.wnl.0000142039.14522.1a · Cited by 263 · see citing works

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

Jones, A. C., Daniells, C., Snell, R. G., Tachataki, M., Idziaszczyk, S., Krawczak, M., Sampson, J. R., & Cheadle, J. P. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.12.2155 · Cited by 261 · see citing works

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

Povey, S., Burley, M., ATTWOOD, J., Benham, F., Hunt, D. M., Jeremiah, S. J., FRANKLIN, D., Gillett, G. T., Malas, S., Robson, E. B., et al. (1994) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1994.tb01881.x · Cited by 261 · see citing works

Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation ofTSC1orTSC2Leads to mTOR Activation

Chan, J. A.-W., Zhang, H., Roberts, P. S., Jóźwiak, S., Grajkowska, W., Lewin‐Kowalik, J., Kotulska, K., & Kwiatkowski, D. J. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.12.1236 · Cited by 257 · see citing works

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

Baybis, M., Yu, J., Lee, A., Golden, J. A., Weiner, H. L., McKhann, G. M., Aronica, E., & Crino, P. B. (2004) · Annals of Neurology · doi:10.1002/ana.20211 · Cited by 255 · see citing works

Recurrent Lymphangiomyomatosis after Transplantation: Genetic Analyses Reveal a Metastatic Mechanism

Karbowniczek, M., Astrinidis, A., Balsara, B., Testa, J. R., Lium, J. H., Colby, T. V., McCormack, F. X., & Henske, E. P. (2003) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200208-969oc · Cited by 254 · see citing works

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.

Plank, T. L., Yeung, R. S. W., & Henske, E. P. (1998) · PubMed · Cited by 251 · see citing works

Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.

Björnsson, J., Short, M. P., Kwiatkowski, D. J., & Henske, E. P. (1996) · Europe PMC (PubMed Central) · Cited by 243 · see citing works

Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2Preprint

Manning, B. D., Logsdon, M. N., Lipovsky, A. I., Abbott, D. W., Kwiatkowski, D. J., & Cantley, L. C. (2005) · Genes & Development · doi:10.1101/gad.1314605 · Cited by 236 · see citing works

Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex

Prather, P. A., & de Vries, P. J. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090601 · Cited by 235 · see citing works

Cortical Tuber Count: A Biomarker Indicating Neurologic Severity of Tuberous Sclerosis Complex

Goodman, M. G., Lamm, S. H., Engel, A., Shepherd, C. W., Houser, O. W., & Gómez, M. R. (1997) · Journal of Child Neurology · doi:10.1177/088307389701200203 · Cited by 234 · see citing works

Renal Angiomyolipoma: Long-term Results after Arterial Embolization

Kothary, N., Soulen, M. C., Clark, T. W. I., Wein, A. J., Shlansky-Goldberg, R. D., Stavropoulos, S. W., & Crino, P. B. (2005) · Journal of Vascular and Interventional Radiology · doi:10.1097/01.rvi.0000143769.79774.70 · Cited by 231 · see citing works

Managing Epilepsy in Tuberous Sclerosis Complex

Thiele, E. A. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190090801 · Cited by 222 · see citing works

Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome

Koh, S., Jayakar, P., Dunoyer, C., Whiting, S. E., Resnick, T., Álvarez, L., Morrison, G., Ragheb, J. R., Prats, A. R., Dean, P., et al. (2000) · Epilepsia · doi:10.1111/j.1528-1157.2000.tb00327.x · Cited by 221 · see citing works

Natural history of cardiac rhabdomyoma in infancy and childhood

Smythe, J., Dyck, J. D., Smallhorn, J. F., & Freedom, R. M. (1990) · The American Journal of Cardiology · doi:10.1016/0002-9149(90)91109-j · Cited by 221 · see citing works

An epidemiological study of renal pathology in tuberous sclerosis complex

O'Callaghan, F. J., Noakes, M. J., Martyn, C., & Osborne, J. P. (2004) · British Journal of Urology · doi:10.1111/j.1464-410x.2004.05046.x · Cited by 206 · see citing works

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

Niida, Y., Stemmer-Rachamimov, A. O., Logrip, M. L., Tapon, D., Perez, R., Kwiatkowski, D. J., Sims, K. B., MacCollin, M., Louis, D. N., & Ramesh, V. (2001) · The American Journal of Human Genetics · doi:10.1086/321972 · Cited by 205 · see citing works

Neuropathology of tuberous sclerosis

Mizuguchi, M., & Takashima, S. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00304-7 · Cited by 205 · see citing works

The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

O'Callaghan, F. J. (2004) · Archives of Disease in Childhood · doi:10.1136/adc.2003.026815 · Cited by 204 · see citing works

Autism and Tuberous Sclerosis

Smalley, S. L. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026052421693 · Cited by 203 · see citing works

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

Bader, R. S., Chitayat, D. A., Kelly, E., Ryan, G., Smallhorn, J. F., Toi, A., & Hornberger, L. K. (2003) · The Journal of Pediatrics · doi:10.1067/s0022-3476(03)00494-3 · Cited by 203 · see citing works

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma

El-Hashemite, N., Zhang, H., Henske, E. P., & Kwiatkowski, D. J. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13044-9 · Cited by 196 · see citing works

National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex

Hyman, M. H., & Whittemore, V. (2000) · Archives of Neurology · doi:10.1001/archneur.57.5.662 · Cited by 195 · see citing works

Efficacy of a rapamycin analog (CCI‐779) and IFN‐γ in tuberous sclerosis mouse models

Lee, L., Sudentas, P., Donohue, B. G., Asrican, K., Worku, A. D., Walker, V., Sun, Y., Schmidt, K. F., Albert, M. S., El-Hashemite, N., et al. (2004) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20118 · Cited by 166 · see citing works

The p38 and MK2 Kinase Cascade Phosphorylates Tuberin, the Tuberous Sclerosis 2 Gene Product, and Enhances Its Interaction with 14-3-3

Li, Y., Inoki, K., Vacratsis, P. O., & Guan, K. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m300862200 · Cited by 163 · see citing works

Insulin signaling pathways in cortical dysplasia and TSC‐tubers: Tissue microarray analysis

Miyata, H., Chiang, A., & Vinters, H. V. (2004) · Annals of Neurology · doi:10.1002/ana.20234 · Cited by 152 · see citing works

Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration

Astrinidis, A., Cash, T. P., Hunter, D., Walker, C. L., Chernoff, J., & Henske, E. P. (2002) · Oncogene · doi:10.1038/sj.onc.1205962 · Cited by 151 · see citing works

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis

Sato, T., Seyama, K., Fujii, H., Maruyama, H., Setoguchi, Y., Iwakami, S., Fukuchi, Y., & Hino, O. (2002) · Journal of Human Genetics · doi:10.1007/s10038-002-8651-8 · Cited by 150 · see citing works

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Maheshwar, M. M., Cheadle, J. P., Jones, A. C., Myring, J., Fryer, A. E., Harris, P. C., & Sampson, J. R. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.11.1991 · Cited by 147 · see citing works

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex

Goh, S., Kwiatkowski, D. J., Dorer, D. J., & Thiele, E. A. (2005) · Neurology · doi:10.1212/01.wnl.0000168908.78118.99 · Cited by 145 · see citing works

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

van Slegtenhorst, M., Verhoef, S., Tempelaars, A. M. P., Bakker, L., Wang, Q., Wessels, M. W., Bakker, R., Nellist, M. D., Lindhout, D., Halley, D. J. J., et al. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.4.285 · Cited by 134 · see citing works

Rheb is in a high activation state and inhibits B-Raf kinase in mammalian cells

Im, E., von Lintig, F. C., Chen, J. L., Zhuang, S., Qui, W., Chowdhury, S., Worley, P. F., Boss, G. R., & Pilz, R. B. (2002) · Oncogene · doi:10.1038/sj.onc.1205792 · Cited by 129 · see citing works

LONG-TERM OUTCOME OF TRANSCATHETER EMBOLIZATION OF RENAL ANGIOMYOLIPOMAS DUE TO TUBEROUS SCLEROSIS COMPLEX

Ewalt, D. H., Diamond, N. G., Rees, C. R., Sparagana, S. P., Delgado, M. R., Batchelor, L. L., & Roach, E. S. (2005) · The Journal of Urology · doi:10.1097/01.ju.0000177497.31986.64 · Cited by 124 · see citing works

Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis

Kwiatkowska, J., Wigowska-Sowińska, J., Napierala, D., Słomski, R., & Kwiatkowski, D. J. (1999) · New England Journal of Medicine · doi:10.1056/nejm199903043400905 · Cited by 124 · see citing works

Malignant renal tumors intuberous sclerosis

Washecka, R. M., & Hanna, M. K. (1991) · Urology · doi:10.1016/0090-4295(91)80261-5 · Cited by 121 · see citing works

Infantile spasms in tuberous sclerosis complex

Curatolo, P., Seri, S., Verdecchia, M., & Bombardieri, R. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00300-x · Cited by 118 · see citing works

Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus.

Wienecke, R., Maize, J. C., Shoarinejad, F., Vass, W. C., Reed, J., Bonifacino, J. S., Resau, J., de Gunzburg, J., Yeung, R. S. W., & DeClue, J. E. (1996) · PubMed · Cited by 107 · see citing works

Aberrant β-Catenin Signaling in Tuberous Sclerosis

Mak, B. C., Kenerson, H. L., Aicher, L. D., Barnes, E. A., & Yeung, R. S. W. (2005) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)62958-6 · Cited by 102 · see citing works

Regulation of B-Raf Kinase Activity by Tuberin and Rheb Is Mammalian Target of Rapamycin (mTOR)-independent

Karbowniczek, M., Cash, T. P., Cheung, M., Robertson, G. P., Astrinidis, A., & Henske, E. P. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m402591200 · Cited by 99 · see citing works

Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study

Park, S., Pepkowitz, S. H., Kerfoot, C. A., Rosa, M. J. D., Poukens, V., Wienecke, R., DeClue, J. E., & Vinters, H. V. (1997) · Acta Neuropathologica · doi:10.1007/s004010050691 · Cited by 98 · see citing works

14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).

Liu, M. Y., Cai, S., Espejo, A. B., Bedford, M. T., & Walker, C. L. (2002) · PubMed · Cited by 87 · see citing works

Pam and Its Ortholog Highwire Interact with and May Negatively Regulate the TSC1·TSC2 Complex

Murthy, V., Han, S., Beauchamp, R. L., Smith, N., Haddad, L. A., Ito, N., & Ramesh, V. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m310208200 · Cited by 82 · see citing works

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner

Astrinidis, A., Senapedis, W. T., & Henske, E. P. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi444 · Cited by 82 · see citing works

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex

Nellist, M. D., Sancak, Ő., Goedbloed, M., Rohé, C. F., van Netten, D., Mayer, K., Williams, A. T., van den Ouweland, A. M. W., & Halley, D. J. J. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201276 · Cited by 81 · see citing works

Cell Cycle-regulated Phosphorylation of Hamartin, the Product of the Tuberous Sclerosis Complex 1 Gene, by Cyclin-dependent Kinase 1/Cyclin B

Astrinidis, A., Senapedis, W. T., Coleman, T. R., & Henske, E. P. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m303956200 · Cited by 79 · see citing works

The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton

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Estrogen-induced Smooth Muscle Cell Growth Is Regulated by Tuberin and Associated with Altered Activation of Platelet-derived Growth Factor Receptor-β and ERK-1/2

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Pancreatic neuroendocrine tumors: Clinical features, diagnosis and medical treatment: Advances

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Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms

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Tsc2-Rheb signaling regulates EphA-mediated axon guidance

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mTOR: A pathogenic signaling pathway in developmental brain malformations

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Genetic basis of kidney cancer: Role of genomics for the development of disease-based therapeuticsPreprint

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Dissecting the Akt/mammalian target of rapamycin signaling network: emerging results from the head and neck cancer tissue array initiative

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Autism genetics

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Amino Acid Signaling in TOR Activation

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Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

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Cytoplasmic and nuclear distribution of the protein complexes mTORC1 and mTORC2: rapamycin triggers dephosphorylation and delocalization of the mTORC2 components rictor and sin1

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Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade

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Serum Vascular Endothelial Growth Factor-D Prospectively Distinguishes Lymphangioleiomyomatosis From Other Diseases

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Diffuse Cystic Lung Disease. Part I

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Diagnostic methods and treatment options for focal cortical dysplasia

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Rates and predictors of seizure freedom in resective epilepsy surgery: an update

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The genomic landscape of tuberous sclerosis complex

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Post-transcriptional Regulation of De Novo Lipogenesis by mTORC1-S6K1-SRPK2 Signaling

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Childhood autism and associated comorbidities

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Disruption of Tsc2 in oocytes leads to overactivation of the entire pool of primordial follicles

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Dysregulated mTORC1 renders cells critically dependent on desaturated lipids for survival under tumor-like stressPreprint

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Pictorial Review of Tuberous Sclerosis in Various Organs

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Rapamycin for treating Tuberous Sclerosis and Autism Spectrum Disorders

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The role of the Birt–Hogg–Dubé protein in mTOR activation and renal tumorigenesis

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Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

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Tuberous Sclerosis Complex

Treadwell, P. A. (2025) · Springer eBooks · doi:10.1007/978-3-031-86177-2_22

Tuberous Sclerosis

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Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

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Tuberous sclerosis complex in a child: diagnosis and management

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A De Novo Mutation in TSC2 Gene is Associated with Tuberous Sclerosis Complex (TSC)- A Case Report

Zhan, W., Li, J., Zhao, Y., Zhang, J., Zhang, Y., Mi, Y., & Duan, J. (2020) · RePEc: Research Papers in Economics