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

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

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

Identification of the Tuberous Sclerosis Gene TSC1 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

Identification and characterization of the tuberous sclerosis gene on chromosome 16

(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645

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

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

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 1,264

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 1,107

Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

Davies, D. M., Johnson, S. R., Tattersfield, A. E., Kingswood, J. C., Cox, J. A., McCartney, D. L., Doyle, T., Elmslie, F., Saggar, A., de Vries, P. J., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmc072500 · Cited by 210

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex

Boer, K., Jansen, F. E., Nellist, M. D., Redeker, S., van den Ouweland, A. M. W., Spliet, W. G. M., van Nieuwenhuizen, O., Troost, D., Crino, P. B., & Aronica, E. (2007) · Epilepsy Research · doi:10.1016/j.eplepsyres.2007.10.002 · Cited by 212

Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex

Liang, N., Zhang, C., Dill, P., Panasyuk, G., Pion, D., Koka, V., Gallazzini, M., Olson, E. N., Lam, H., Henske, E. P., et al. (2014) · Journal of Experimental Medicine · doi:10.1084/jem.20140341 · Cited by 205

Hereditary Kidney Cancer Syndromes

Haas, N. B., & Nathanson, K. L. (2013) · Advances in Chronic Kidney Disease · doi:10.1053/j.ackd.2013.10.001 · Cited by 221

Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study

Franz, D. N., Белоусова, Е. Д., Sparagana, S. P., Bebin, E. M., Frost, M., Kuperman, R. A., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0158476 · Cited by 209

Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis

Basten, S. G., & Giles, R. H. (2013) · Cilia · doi:10.1186/2046-2530-2-6 · Cited by 216

Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma

Krueger, D. A., Caré, M. M., Agricola, K. D., Tudor, C., Mays, M., & Franz, D. N. (2013) · Neurology · doi:10.1212/wnl.0b013e3182815428 · Cited by 208

Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012

Roth, J., Roach, E. S., Bartels, U. K., Jóźwiak, S., Koenig, M. K., Weiner, H. L., Franz, D. N., & Wang, H. Z. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.08.017 · Cited by 208

Genetically engineered human cortical spheroid models of tuberous sclerosis

Blair, J. D., Hockemeyer, D. F., & Bateup, H. S. (2018) · Nature Medicine · doi:10.1038/s41591-018-0139-y · Cited by 205

Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies.

Wong, M. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2009.02341.x · Cited by 205

Multicenter Phase 2 Trial of Sirolimus for Tuberous Sclerosis: Kidney Angiomyolipomas and Other Tumors Regress and VEGF- D Levels Decrease

Dabora, S. L., Franz, D. N., Ashwal, S., Sagalowsky, A. I., DiMario, F. J., Miles, D. K., Cutler, D., Krueger, D. A., Uppot, R. N., Rabenou, R. A., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023379 · Cited by 203

Accelerated wound healing by mTOR activation in genetically defined mouse models

Squarize, C. H., Castilho, R. M., Bugge, T. H., & Gutkind, J. S. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010643 · Cited by 203

Defining Early-Onset Kidney Cancer: Implications for Germline and Somatic Mutation Testing and Clinical Management

Shuch, B. M., Vourganti, S., Ricketts, C. J., Middleton, L., Peterson, J. C., Merino, M. J., Metwalli, A. R., Srinivasan, R., & Linehan, W. M. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2013.50.8192 · Cited by 201

Role and Therapeutic Targeting of the PI3K/Akt/mTOR Signaling Pathway in Skin Cancer: A Review of Current Status and Future Trends on Natural and Synthetic Agents Therapy

Chamcheu, J. C., Roy, T., Uddin, M. B., Banang‐Mbeumi, S., Chamcheu, R. N., Walker, A. L., Liu, Y., & Huang, S. (2019) · Cells · doi:10.3390/cells8080803 · Cited by 212

Human Cytomegalovirus Protein UL38 Inhibits Host Cell Stress Responses by Antagonizing the Tuberous Sclerosis Protein Complex

Moorman, N. J., Cristea, I. M., Terhune, S. S., Rout, M. P., Chait, B. T., & Shenk, T. (2008) · Cell Host & Microbe · doi:10.1016/j.chom.2008.03.002 · Cited by 194

Characterization of Cardiac Tumors in Children by Cardiovascular Magnetic Resonance Imaging

Beroukhim, R. S., Prakash, A., Buechel, E. R. V., Cava, J. R., Dorfman, A. L., Festa, P., Hlavacek, A. M., Johnson, T. R., Keller, M. S., Krishnamurthy, R., et al. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.05.027 · Cited by 199

Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial

Young, L. R., Lee, H. S., Inoue, Y., Moss, J., Singer, L. G., Strange, C., Nakata, K., Barker, A. F., Chapman, J. T., Brantly, M., et al. (2013) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(13)70090-0 · Cited by 199

Rapamycin Attenuates the Development of Posttraumatic Epilepsy in a Mouse Model of Traumatic Brain Injury

Guo, D., Zeng, L., Brody, D. L., & Wong, M. L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064078 · Cited by 198

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Reith, R. M., McKenna, J., Wu, H. C., Hashmi, S. S., Cho, S., Dash, P. K., & Gambello, M. J. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.10.014 · Cited by 193

Balanced mTORC1 Activity in Oligodendrocytes Is Required for Accurate CNS Myelination

Lebrun-Julien, F., Bachmann, L. C., Norrmén, C., Trötzmüller, M., Köfeler, H. C., Rüegg, M. A., Hall, M. N., & Suter, U. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.1105-14.2014 · Cited by 199

Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent

Parkhitko, A. A., Myachina, F., Morrison, T. A., Hindi, K. M., Auricchio, N., Karbowniczek, M., Wu, J. J., Finkel, T., Kwiatkowski, D. J., Yu, J. J., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1104361108 · Cited by 193

Daily Exposure to Di(2-ethylhexyl) Phthalate Alters Estrous Cyclicity and Accelerates Primordial Follicle Recruitment Potentially Via Dysregulation of the Phosphatidylinositol 3-Kinase Signaling Pathway in Adult Mice1

Hannon, P. R., Peretz, J., & Flaws, J. A. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.119032 · Cited by 193

Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature

Adriaensen, M. E. A. P. M., Schaefer‐Prokop, C. M., Stijnen, T., Duyndam, D., Zonnenberg, B. A., & Prokop, M. (2009) · European Journal of Neurology · doi:10.1111/j.1468-1331.2009.02567.x · Cited by 188

Drosophila melanogaster as a Model Organism of Brain Diseases

Jeibmann, A., & Paulus, W. (2009) · International Journal of Molecular Sciences · doi:10.3390/ijms10020407 · Cited by 200

mTOR Signaling in Epilepsy: Insights from Malformations of Cortical DevelopmentPreprint

Crino, P. B. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a022442 · Cited by 188

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

de Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M. G., D’Amato, L., d’Augères, G. B., Ferreira, J. C., et al. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0901-8 · Cited by 190

The mTOR pathway and its role in human genetic diseases

ROSNER, M., Hanneder, M., Siegel, N., Valli, A., Fuchs, C., & HENGSTSCHLAGER, M. (2008) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2008.06.001 · Cited by 185

Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

Peters, J. M., Taquet, M., Vega, C., Jeste, S., Fernández, I. S., Tan, J., Nelson, C. A., Şahin, M., & Warfield, S. K. (2013) · BMC Medicine · doi:10.1186/1741-7015-11-54 · Cited by 190

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Bergmann, C. (2014) · Pediatric Nephrology · doi:10.1007/s00467-013-2706-2 · Cited by 187

PTEN-opathies: from biological insights to evidence-based precision medicine

Yehia, L., Ngeow, J. Y. Y., & Eng, C. (2019) · Journal of Clinical Investigation · doi:10.1172/jci121277 · Cited by 178

Everolimus for subependymal giant cell astrocytoma: 5‐year final analysis

Franz, D. N., Agricola, K. D., Mays, M., Tudor, C., Caré, M. M., Holland‐Bouley, K. D., Berkowitz, N. C., Miao, S., Peyrard, S., & Krueger, D. A. (2015) · Annals of Neurology · doi:10.1002/ana.24523 · Cited by 174

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

Feliciano, D. M., Su, T. Y., López, J. M., Platel, J., & Bordey, A. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44909 · Cited by 174

Mammalian Target of Rapamycin (mTOR) Pathways in Neurological Diseases

Wong, M. (2013) · Biomedical Journal · doi:10.4103/2319-4170.110365 · Cited by 173

Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study

Bissler, J. J., Kingswood, J. C., Radzikowska, E., Zonnenberg, B. A., Belousova, E., Frost, M. D., Sauter, M., Brakemeier, S., de Vries, P. J., Berkowitz, N., et al. (2017) · PLOS ONE · doi:10.1371/journal.pone.0180939 · Cited by 157

Molecular Diagnosis and Therapy of Kidney Cancer

Linehan, W. M., Bratslavsky, G., Pinto, P. A., Schmidt, L. S., Neckers, L., Bottaro, D. P., & Srinivasan, R. (2010) · Annual Review of Medicine · doi:10.1146/annurev.med.042808.171650 · Cited by 167

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin

Carson, R. P., Van Nielen, D. L., Winzenburger, P. A., & Ess, K. C. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.08.024 · Cited by 165

Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner

Di Nardo, A., Kramvis, I., Cho, N., Sadowski, A., Meikle, L., Kwiatkowski, D. J., & Sahin, M. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.0778-09.2009 · Cited by 165

Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells

Yu, J. J., Robb, V. A., Morrison, T. A., Ariazi, E. A., Karbowniczek, M., Astrinidis, A., Wang, C., Hernandez‐Cuebas, L., Seeholzer, L. F., Nicolas, É., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810790106 · Cited by 165

mTOR signaling in tumorigenesis

Xu, K. L., Liu, P., & Wei, W. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.10.007 · Cited by 167

Role of mTOR Complexes in Neurogenesis

Licausi, F., & Hartman, N. W. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19051544 · Cited by 172

Tuberous Sclerosis Complex Renal Disease

Dixon, B. P., Hulbert, J. C., & Bissler, J. J. (2010) · Nephron Experimental Nephrology · doi:10.1159/000320891 · Cited by 162

Genetic predisposition to kidney cancer

Schmidt, L. S., & Linehan, W. M. (2016) · Seminars in Oncology · doi:10.1053/j.seminoncol.2016.09.001 · Cited by 163

WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1–CUL4–ROC1 ligasePreprint

Shumway, S., Zacharek, S., He, Y. J., Lee, H., Shumway, S., Duronio, R. J., & Xiong, Y. (2008) · Genes & Development · doi:10.1101/gad.1624008 · Cited by 163

Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders

Stornetta, R. L., & Zhu, J. (2010) · The Neuroscientist · doi:10.1177/1073858410365562 · Cited by 161

Redox Regulates Mammalian Target of Rapamycin Complex 1 (mTORC1) Activity by Modulating the TSC1/TSC2-Rheb GTPase Pathway

Yoshida, S., Hong, S., Suzuki, T., Nada, S., Mannan, A. M., Wang, J., Okada, M., Guan, K., & Inoki, K. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.238014 · Cited by 159

Impaired Autophagy in Neurons after Disinhibition of Mammalian Target of Rapamycin and Its Contribution to Epileptogenesis

McMahon, J. J., Huang, X., Yang, J., Komatsu, M., Yue, Z., Qian, J., Zhu, X. C., & Huang, Y. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.2392-12.2012 · Cited by 156

Biallelic TSC gene inactivation in tuberous sclerosis complex

Crino, P. B., Aronica, E., Baltuch, G., & Nathanson, K. L. (2010) · Neurology · doi:10.1212/wnl.0b013e3181e04325 · Cited by 153

Drugging the addict: non‐oncogene addiction as a target for cancer therapy

Nagel, R., Semenova, E. A., & Berns, A. J. M. (2016) · EMBO Reports · doi:10.15252/embr.201643030 · Cited by 161

Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist

Leclezio, L., Jansen, A., Whittemore, V., & de Vries, P. J. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.006 · Cited by 158

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

Salussolia, C. L., Klonowska, K., Kwiatkowski, D. J., & Sahin, M. (2019) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-015354 · Cited by 163

Diagnostic Potential of Serum VEGF-D for Lymphangioleiomyomatosis

Young, L. R., Inoue, Y., & McCormack, F. X. (2008) · New England Journal of Medicine · doi:10.1056/nejmc0707517 · Cited by 151

The autism‐epilepsy connection

Levisohn, P. M. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01399.x · Cited by 146

Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations

Palsgrove, D. N., Li, Y., Pratilas, C. A., Lin, M., Pallavajjalla, A., Gocke, C. D., Marzo, A. M. D., Matoso, A., Netto, G. J., Epstein, J. I., et al. (2018) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001111 · Cited by 155

Lactate Dehydrogenase B Is Critical for Hyperactive mTOR-Mediated Tumorigenesis

Zha, X., Wang, F., Wang, Y., He, S., Jing, Y., Wu, X., & Zhang, H. (2011) · Cancer Research · doi:10.1158/0008-5472.can-10-1668 · Cited by 147

Recent advances in neurobiology of Tuberous Sclerosis Complex

Napolioni, V., Moavero, R., & Curatolo, P. (2008) · Brain and Development · doi:10.1016/j.braindev.2008.09.013 · Cited by 147

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners

Rosner, M., Hanneder, M., Siegel, N., Valli, A., & Hengstschläger, M. (2008) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2008.01.001 · Cited by 147

mTORC1 Promotes Metabolic Reprogramming by the Suppression of GSK3-dependent Foxk1 Phosphorylation

He, L., Gomes, A. P., Wang, X., Yoon, S. O., Lee, G., Nagiec, M. J., Cho, S., Chavez, A., Islam, T., Yu, Y., et al. (2018) · Molecular Cell · doi:10.1016/j.molcel.2018.04.024 · Cited by 145

The metabolic basis of kidney cancer

Linehan, W. M., & Ricketts, C. J. (2012) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2012.06.002 · Cited by 152

Chronic Disease Risks in Young Adults With Autism Spectrum Disorder: Forewarned Is Forearmed

Tyler, C. V., Schramm, S., Karafa, M., Tang, A., & Jain, A. (2011) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-116.5.371 · Cited by 146

A review of the evidence for the canonical Wnt pathway in autism spectrum disorders

Kalkman, H. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-10 · Cited by 142

Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations

Franz, D., Bissler, J., & McCormack, F. (2010) · Neuropediatrics · doi:10.1055/s-0030-1269906 · Cited by 138

Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: Clinical and molecular correlates

Dickson, M. A., Schwartz, G. K., Antonescu, C. R., Kwiatkowski, D. J., & Malinowska, I. A. (2012) · International Journal of Cancer · doi:10.1002/ijc.27800 · Cited by 144

Evolving neurobiology of tuberous sclerosis complex

Crino, P. B. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1085-x · Cited by 139

Renal disease in tuberous sclerosis complex: pathogenesis and therapy

Lam, H. C., Siroky, B. J., & Henske, E. P. (2018) · Nature Reviews Nephrology · doi:10.1038/s41581-018-0059-6 · Cited by 135

Gene Expression Analysis of Tuberous Sclerosis Complex Cortical Tubers Reveals Increased Expression of Adhesion and Inflammatory Factors

Boer, K., Crino, P. B., Gorter, J. A., Nellist, M., Jansen, F. E., Spliet, W. G. M., Van Rijen, P. C., Wittink, F. R. A., Breit, T. M., Troost, D., et al. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2009.00341.x · Cited by 148

Long-term Follow-up Assessing Renal Angiomyolipoma Treatment Patterns, Morbidity, and Mortality: An Observational Study in Tuberous Sclerosis Complex Patients in the Netherlands

Eijkemans, M. J. C., van der Wal, W. M., Reijnders, L. J., Roes, K. C. B., van Doorn-Khosrovani, S. B. V. W., Pelletier, C. L., Magestro, M., & Zonnenberg, B. A. (2015) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2015.05.016 · Cited by 133

Identification of potential drug targets for tuberous sclerosis complex by synthetic screens combining CRISPR-based knockouts with RNAi

Housden, B. E., Valvezan, A. J., Kelley, C., Sopko, R., Hu, Y., Roesel, C. L., Lin, S., Buckner, M., Tao, R., Yilmazel, B., et al. (2015) · Science Signaling · doi:10.1126/scisignal.aab3729 · Cited by 134

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Bergmann, C. (2018) · Frontiers in Pediatrics · doi:10.3389/fped.2017.00221 · Cited by 138

Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy

Curatolo, P. (2014) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.028 · Cited by 135

Metabolic alterations in cancer cells and therapeutic implications

Hammoudi, N., Ahmed, K. B. R., Garcı́a-Prieto, C., & Huang, P. (2011) · 癌症：英文版 · doi:10.5732/cjc.011.10267 · Cited by 137

Genetics of tuberous sclerosis complex: implications for clinical practice

Cabán, C. T., Khan, N., Hasbani, D. M., & Crino, P. B. (2016) · The Application of Clinical Genetics · doi:10.2147/tacg.s90262 · Cited by 131

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

Mester, J. L., & Eng, C. (2013) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31364 · Cited by 130

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex

Curatolo, P., Moavero, R., Roberto, D., & Graziola, F. (2015) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2015.10.002 · Cited by 128

Genomic classifications of renal cell carcinoma: a critical step towards the future application of personalized kidney cancer care with pan‐omics precision

Hsieh, J. J.-D., Le, V., Cao, D., Cheng, E. H. Y., & Creighton, C. J. (2017) · The Journal of Pathology · doi:10.1002/path.5022 · Cited by 131

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Saffari, A., Brösse, I., Wiemer‐Kruel, A., Wilken, B., Kreuzaler, P., Hahn, A., Bernhard, M. K., van Tilburg, C. M., Hoffmann, G. F., Gorenflo, M., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1077-6 · Cited by 132

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

Boer, K., Troost, D., Jansen, F. E., Nellist, M. D., van den Ouweland, A. M. W., Geurts, J. J. G., Spliet, W. G. M., Crino, P. B., & Aronica, E. (2008) · Neuropathology · doi:10.1111/j.1440-1789.2008.00920.x · Cited by 124

Signaling Events Downstream of Mammalian Target of Rapamycin Complex 2 Are Attenuated in Cells and Tumors Deficient for the Tuberous Sclerosis Complex Tumor Suppressors

Huang, J., Wu, S., Wu, C., & Manning, B. D. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-0975 · Cited by 123

Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex

Zeng, L., Ouyang, Y., Gazit, V. A., Cirrito, J. R., Jansen, L. A., Ess, K. C., Yamada, K. A., Wozniak, D. F., Holtzman, D. M., Gutmann, D. H., et al. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.07.015 · Cited by 122

GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene

Fu, C., Cawthon, B., Clinkscales, W. B., Bruce, A., Winzenburger, P. A., & Ess, K. C. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhr300 · Cited by 126

From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

Ehninger, D., De Vries, P. J., & Silva, A. J. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01208.x · Cited by 120

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second‐Hit Mutations in these Genes are Rare Events

Qin, W., Chan, J. A.-W., Vinters, H. V., Mathern, G. W., Franz, D. N., Taillon, B. E., Bouffard, P., & Kwiatkowski, D. J. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00416.x · Cited by 121

A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials

Wong, M. (2013) · Expert Review of Neurotherapeutics · doi:10.1586/ern.13.48 · Cited by 123

Vigabatrin Inhibits Seizures and mTOR Pathway Activation in a Mouse Model of Tuberous Sclerosis Complex

Zhang, B., McDaniel, S. S., Rensing, N. R., & Wong, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057445 · Cited by 123

Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

Parker, W. E., Orlova, K. A., Parker, W. H., Birnbaum, J. F., Krymskaya, V. P., Goncharov, D. A., Baybis, M., Helfferich, J., Okochi, K., Strauss, K. A., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3005271 · Cited by 122

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

Costa, V., Aigner, S., Vukcevic, M., Sauter, E. J., Behr, K., Ebeling, M., Dunkley, T. P. J., Friedlein, A., Zoffmann, S., Meyer, C. A., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.02.090 · Cited by 112

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

Sundberg, M., Tochitsky, I., Buchholz, D. E., Winden, K. D., Kujala, V. J., Kapur, K., Cataltepe, D., Turner, D., Han, M., Woolf, C. J., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0018-4 · Cited by 120

Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review

Dorota Dworakowska, B., & Grossman, A. B. (2008) · Endocrine Related Cancer · doi:10.1677/erc-08-0142 · Cited by 119

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Wu, J. Y., Peters, J. M., Goyal, M., Krueger, D. A., Şahin, M., Northrup, H., Au, K. S., Cutter, G., & Bebin, E. M. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2015.09.013 · Cited by 118

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights

Carlo, M. I., Hakimi, A. A., Stewart, G. D., Bratslavsky, G., Brugarolas, J., Chen, Y., Linehan, W. M., Maher, E. R., Merino, M. J., Offit, K., et al. (2019) · European Urology · doi:10.1016/j.eururo.2019.06.015 · Cited by 125

Genetics and Molecular Biology of Tuberous Sclerosis Complex

Napolioni, V., & Curatolo, P. (2008) · Current Genomics · doi:10.2174/138920208786241243 · Cited by 117

Regression of a Cardiac Rhabdomyoma in a Patient Receiving Everolimus

Tiberio, D., Franz, D. N., & PHILLIPS, J. R. (2011) · PEDIATRICS · doi:10.1542/peds.2010-2910 · Cited by 117

Malformations of Cerebral Cortex Development: Molecules and Mechanisms

Juric‐Sekhar, G., & Hevner, R. F. (2019) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012418-012927 · Cited by 119

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

Hallett, L. A., Foster, T. S., Liu, Z., Blieden, M. B., & Valentim, J. (2011) · Current Medical Research and Opinion · doi:10.1185/03007995.2011.586687 · Cited by 117

The pathogenesis and imaging of the tuberous sclerosis complex

Baskin, H. J. (2008) · Pediatric Radiology · doi:10.1007/s00247-008-0832-y · Cited by 116

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

Tsai, V., Parker, W. E., Orlova, K. A., Baybis, M., Chi, A. W. S., Berg, B. D., Birnbaum, J. F., Estevez, J., Okochi, K., Sarnat, H. B., et al. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs310 · Cited by 118

PEComa of the Gastrointestinal Tract

Doyle, L. A., Hornick, J. L., & Fletcher, C. D. �. (2013) · The American Journal of Surgical Pathology · doi:10.1097/pas.0b013e31829caab3 · Cited by 116

Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement

Hsieh, L. S., Wen, J. H., Claycomb, K. I., Huang, Y., Harrsch, F. A., Naegele, J. R., Hyder, F., Buchanan, G. F., & Bordey, A. (2016) · Nature Communications · doi:10.1038/ncomms11753 · Cited by 116

The TSC1 and TSC2 tumor suppressors are required for proper ER stress response and protect cells from ER stress-induced apoptosis

Kang, Y. J., Lü, M., & Guan, K.-L. (2010) · Cell Death and Differentiation · doi:10.1038/cdd.2010.82 · Cited by 118

Malformations of Cortical Development

Aronica, E., Becker, A. J., & Spreafico, R. (2012) · Brain Pathology · doi:10.1111/j.1750-3639.2012.00581.x · Cited by 115

A liaison between mTOR signaling, ribosome biogenesis and cancer

Gentilella, A., Kozma, S. C., & Thomas, G. (2015) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2015.02.005 · Cited by 120

Tuberous Sclerosis Complex

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

Tuberous Sclerosis

Sampson, J. R., & Lewis, J. C. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_7 · Cited by 1

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

Au, K. S., Williams, A. T., Gambello, M. J., & Northrup, H. (2004) · Journal of Child Neurology · doi:10.1177/08830738040190091101 · Cited by 88

Tuberous sclerosis complex in a child: diagnosis and management

Gunawan, P. I., Harahap, A., & Saharso, D. (2010) · Paediatrica Indonesiana · doi:10.14238/pi50.3.2010.181-6

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