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

Diagnostic approach to primary retroperitoneal pathologies: what the radiologist needs to know

Czeyda‐Pommersheim, F., Menias, C. O., Boustani, A., & Revzin, M. V. (2020) · Abdominal Radiology · doi:10.1007/s00261-020-02752-8 · Cited by 24

TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation

Kosmas, K., Filippakis, H., Khabibullin, D., Turkiewicz, M., Lam, H. C., Yu, J. J., Kedersha, N., Anderson, P., & Henske, E. P. (2021) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-20-1046 · Cited by 26

Polymerized Collagen Inhibits Fibroblast Proliferation via a Mechanism Involving the Formation of a β1 Integrin-Protein Phosphatase 2A-Tuberous Sclerosis Complex 2 Complex That Suppresses S6K1 Activity

Hong, X., Nho, R. S., Kleidon, J., Kahm, J., & Henke, C. A. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m707489200 · Cited by 24

EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex

Fogarasi, A., Waele, L. D., Bartalini, G., Jóźwiak, S., Laforgia, N., Verhelst, H., Petrak, B., Pédespan, J., Witt, O., Castellana, R., et al. (2016) · BMC Neurology · doi:10.1186/s12883-016-0658-4 · Cited by 24

Combined Targeting of mTOR and Akt Using Rapamycin and MK-2206 in The Treatment of Tuberous Sclerosis Complex

Ji, S., Lin, W., Wang, L., Ni, Z., Jin, F., Zha, X., & Fei, G. (2017) · Journal of Cancer · doi:10.7150/jca.17205 · Cited by 24

Lymphatic Endothelial Differentiation in Pulmonary Lymphangioleiomyomatosis Cells

Davis, J. M., Hyjek, E. M., Husain, A. N., Shen, L., Jones, J. M., & Schuger, L. A. (2013) · Journal of Histochemistry & Cytochemistry · doi:10.1369/0022155413489311 · Cited by 24

Sex-specific lung diseases: effect of oestrogen on cultured cells and in animal models

Shim, B., Pacheco–Rodriguez, G., Kato, J., Darling, T. N., Vaughan, M. M., & Moss, J. (2013) · European Respiratory Review · doi:10.1183/09059180.00002813 · Cited by 24

Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management

Gaur, S., Türkbey, B., & Choyke, P. L. (2016) · Seminars in Ultrasound CT and MRI · doi:10.1053/j.sult.2016.10.002 · Cited by 24

mTOR and Epileptogenesis in Developmental Brain Malformations

Wong, M., & Crino, P. B. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0065 · Cited by 23

Malignant Epithelioid Angiomyolipoma in the Kidney and Liver of a Patient with Pulmonary Lymphangioleiomyomatosis: Lack of Response to Sirolimus

Higa, F., Uchihara, T., Haranaga, S., Yara, S., Tateyama, M., Oshiro, Y., Shiraishi, M., Kumasaka, T., Seyama, K., & Fujita, J. (2009) · Internal Medicine · doi:10.2169/internalmedicine.48.2411 · Cited by 23

At a PI3K crossroads: lessons from flies and rodents

Acebes, Á., & Morales, M. (2012) · Reviews in the Neurosciences · doi:10.1515/rns.2011.057 · Cited by 23

Third Trimester-Equivalent Ethanol Exposure Is Characterized by an Acute Cellular Stress Response and an Ontogenetic Disruption of Genes Critical for Synaptic Establishment and Function in Mice

Kleiber, M. L., Laufer, B. I., Stringer, R., & Singh, S. M. (2014) · Developmental Neuroscience · doi:10.1159/000365549 · Cited by 23

Expression of TRPV1 in cortical lesions from patients with tuberous sclerosis complex and focal cortical dysplasia type IIb

Shu, H., Yu, S., Zhang, C., Liu, S., Wu, K., Zang, Z., Yang, H., Zhou, S., & Yin, Q. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.04.007 · Cited by 23

Rapamycin-Insensitive Up-Regulation of Adipocyte Phospholipase A2 in Tuberous Sclerosis and Lymphangioleiomyomatosis

Li, C., Zhang, E. Y., Sun, Y., Lee, P., Zhan, Y., Guo, Y., Osorio, J. C., Rosas, I. O., Xu, K., Kwiatkowski, D. J., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104809 · Cited by 23

Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation

D'Armiento, J. M., Shiomi, T., Marks, S., Geraghty, P. M., Sankarasharma, D., & Chada, K. K. (2016) · Cancer Research · doi:10.1158/0008-5472.can-15-1287 · Cited by 23

Cystic Renal Neoplasms and Renal Neoplasms Associated With Cystic Renal Diseases in Adults

Katabathina, V. S., Garg, D. K., Prasad, S. R., & Vikram, R. (2012) · Journal of Computer Assisted Tomography · doi:10.1097/rct.0b013e31826dba18 · Cited by 23

Malignant Perivascular Epithelioid Cell Neoplasm of the Mediastinum and the Lung

Liang, W., Xu, S., & Chen, F. (2015) · Medicine · doi:10.1097/md.0000000000000904 · Cited by 23

The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: a retrospective cohort study in the clinical practice research datalink (CPRD)

Kingswood, J. C., Nasuti, P., Patel, K., Myland, M., Siva, V., & Gray, E. J. (2016) · Journal of Medical Economics · doi:10.1080/13696998.2016.1202254 · Cited by 23

Plk2 Loss Commonly Occurs in Colorectal Carcinomas but not Adenomas: Relationship to mTOR Signaling

Matthew, E. M., Yang, Z., Peri, S., Andrake, M., Dunbrack, R. L., Ross, E. A., & El‐Deiry, W. S. (2018) · Neoplasia · doi:10.1016/j.neo.2018.01.004 · Cited by 23

Hypervascularization in mTOR ‐dependent focal and global cortical malformations displays differential rapamycin sensitivity

Zhang, L., Huang, T., Teaw, S., & Bordey, A. (2019) · Epilepsia · doi:10.1111/epi.15969 · Cited by 23

Curcumin represses mTORC1 signaling in Caco-2 cells by a two-sided mechanism involving the loss of IRS-1 and activation of AMPK

Kaur, H., & Moreau, R. F. (2020) · Cellular Signalling · doi:10.1016/j.cellsig.2020.109842 · Cited by 24

Resource Utilization in Children With Tuberous Sclerosis Complex and Associated Seizures

Lennert, B., Farrelly, E., Sacco, P., Pira, G., & Frost, M. (2012) · Journal of Child Neurology · doi:10.1177/0883073812448437 · Cited by 23

Genodermatoses with Cutaneous Tumors and Internal Malignancies

Somoano, B., & Tsao, H. (2007) · Dermatologic Clinics · doi:10.1016/j.det.2007.08.011 · Cited by 23

Hypergrowth mTORC1 Signals Translationally Activate the ARF Tumor Suppressor Checkpoint

Miceli, A. P., Saporita, A. J., & Weber, J. D. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.06030-11 · Cited by 20

Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells

Lam, H. C., Liu, H.-J., Baglini, C. V., Filippakis, H., Alesi, N., Nijmeh, J., Du, H., Lope, A. L., Cottrill, K. A., Handen, A. L., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.19947 · Cited by 21

CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia

Chiang, Y.-J., Liao, W.-T., Ho, K.-C., Wang, S., Chen, Y., Ho, C., Huang, S.-F. K., Shih, L., Yang‐Yen, H., & Yen, J. J.-Y. (2018) · Oncogene · doi:10.1038/s41388-018-0507-6 · Cited by 22

Tsc1 regulates tight junction independent of mTORC1

Lai, M., Zou, W., Han, Z., Zhou, L., Qiu, Z., Chen, J., Zhang, S., Lai, P., Li, K., Zhang, Y., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2020891118 · Cited by 22

Inhibition of MEK-ERK signaling reduces seizures in two mouse models of tuberous sclerosis complex

Nguyen, L. H., Leiser, S. C., Song, D., Brunner, D., Roberds, S. L., Wong, M., & Bordey, A. (2022) · Epilepsy Research · doi:10.1016/j.eplepsyres.2022.106890 · Cited by 23

RNA interference screening identifies a novel role for PCTK1/CDK16 in medulloblastoma with c-Myc amplification

Ćwiek, P., Leni, Z., Salm, F., Dimitrova, V., Styp‐Rekowska, B., Chiriano, G., Carroll, M., Höland, K., Djonov, V., Scapozza, L., et al. (2014) · Oncotarget · doi:10.18632/oncotarget.2699 · Cited by 22

Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis

Sasongko, T. H., Ismail, N. F. D., Malik, N. M. A. N. A., & Zabidi-Hussin, Z. A. M. H. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0317-7 · Cited by 22

TSC 2 epigenetic defect in primary LAM cells. Evidence of an anchorage‐independent survival

Lesma, E. A., Ancona, S., Sirchia, S. M., Orpianesi, E., Grande, V., Colapietro, P., Chiaramonte, E., Giulio, A. M. D., & Gorio, A. (2014) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.12237 · Cited by 22

Constitutive and induced functions of the p53 gene

Zheltukhin, A. O., & Chumakov, P. M. (2010) · Biochemistry (Moscow) · doi:10.1134/s0006297910130110 · Cited by 23

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial

Randell, E., McNamara, R. L., Davies, D. M., Owen-Jones, E., Kirby, N., Angel, L., Drew, C., Cannings-John, R. L., Smalley, M., Saxena, A., et al. (2016) · Trials · doi:10.1186/s13063-016-1446-6 · Cited by 21

TFEB activation restores migration ability to Tsc1-deficient adult neural stem/progenitor cells

Magini, A., Polchi, A., Meo, D. D., Mariucci, G., Sagini, K., Marco, F. D., Cassano, T., Giovagnoli, S., Dolcetta, D., & Emiliani, C. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx214 · Cited by 22

Recent advances in the molecular diagnosis of polycystic kidney disease

Bergmann, C. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1386099 · Cited by 22

Dendrite growth and the effect of ectopic Rheb expression on cortical neurons

Sokolov, A. M., Seluzicki, C. M., Morton, M. C., & Feliciano, D. M. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.02.021 · Cited by 24

Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca2+ Influx via L-Type Ca2+ Channels

Hisatsune, C., Shimada, T., Miyamoto, A., Lee, A., & Yamagata, K. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-20.2021 · Cited by 22

Neuropsychological Attention Skills and Related Behaviours in Adults with Tuberous Sclerosis Complex

Tierney, K. M., McCartney, D. L., Serfontein, J., & de Vries, P. J. (2010) · Behavior Genetics · doi:10.1007/s10519-010-9423-4 · Cited by 22

Genetics of cognition in epilepsy

Busch, R. M., Najm, I., Hermann, B. P., & Eng, C. (2014) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2014.05.026 · Cited by 22

Perivascular epithelial cell tumor (PEComa) of the pancreas

Zhang, S., Chen, F., Huang, X., Jiang, Q., Zhao, Y., Chen, Y., Zhang, J., Ma, J., Yuan, W., Xu, Q., et al. (2017) · Medicine · doi:10.1097/md.0000000000007050 · Cited by 22

Pathogenesis of TSC in the Brain

Crino, P. B., Mehta, R. I., & Vinters, H. V. (2010) · Wiley eBooks · doi:10.1002/9783527630073.ch9 · Cited by 22

Rates of interventional procedures in patients with tuberous sclerosis complex-related renal angiomyolipoma

Bissler, J. J., Cappell, K. A., Charles, H. W., Song, X., Liu, Z., Prestifilippo, J., & Hulbert, J. C. (2015) · Current Medical Research and Opinion · doi:10.1185/03007995.2015.1060212 · Cited by 21

Toward a genome-based treatment landscape for renal cell carcinoma

Massari, F., Nunno, V. D., Santoni, M., Gatto, L., Caserta, C., Morelli, F., Zafarana, E., Carrozza, F., Mosca, A., Mollica, V., et al. (2019) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2019.07.020 · Cited by 21

Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis

Li, Y., Scerif, F., Picker, S. R., Stone, T. J., Pickles, J. C., MOULDING, D. A., Avery, A., Virasami, A. K., Fairchild, A. R., Tisdall, M. M., et al. (2021) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12715 · Cited by 20

Histamine signaling and metabolism identify potential biomarkers and therapies for lymphangioleiomyomatosis

Herranz, C., Mateo, F., Baiges, A., Ponce, G. R. D. G., Junza, A., Johnson, S. R., Miller, S., García, N., Capellades, J., Gómez, A., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202113929 · Cited by 21

TiMEG: an integrative statistical method for partially missing multi-omics data

Das, S., & Mukhopadhyay, I. (2021) · Scientific Reports · doi:10.1038/s41598-021-03034-z · Cited by 22

Spontaneous resolution of a 13-mm Chiari malformation Type I in relation to differential growth of the posterior fossa volume

Waldau, B., Domeshek, L. F., Leigh, F. A., Lum, K., Fuchs, H. E., Marcus, J. R., Mukundan, S., & Grant, G. A. (2009) · Journal of Neurosurgery Pediatrics · doi:10.3171/2008.10.peds08200 · Cited by 21

Efficacy and safety of a mammalian target of rapamycin inhibitor in pediatric patients with tuberous sclerosis complex: A systematic review and meta-analysis

Yang, G., Yang, L., Yang, X., Shi, X., Wang, J., Liu, Y.-J., Ju, J., & Zou, L. (2014) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2014.2093 · Cited by 21

Huaier aqueous extract inhibits proliferation and metastasis of tuberous sclerosis complex cell models through downregulation of JAK2/STAT3 and MAPK signaling pathways

Yang, A., Fan, H., Zhao, Y., Zha, X., Zhang, H., Hu, Z., & Tu, P. (2016) · Oncology Reports · doi:10.3892/or.2016.4969 · Cited by 21

Actionable Metabolic Pathways in Heart Failure and Cancer—Lessons From Cancer Cell Metabolism

Karlstaedt, A., Schiffer, W. B., & Taegtmeyer, H. (2018) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2018.00071 · Cited by 21

Brain‐Responsive Neurostimulation for the treatment of adults with epilepsy in tuberous sclerosis complex: A case series

McDermott, D. S., Mirro, E. A., Fetrow, K., Burdette, D. E., Chen, S. H., Hopp, J. L., Masel, T., Johnson, E. A., Elefant, F. M. K., Le, S. T., et al. (2021) · Epilepsia Open · doi:10.1002/epi4.12481 · Cited by 20

Neurite orientation dispersion and density imaging parameters may help for the evaluation of epileptogenic tubers in tuberous sclerosis complex patients

Shao, X., Zhang, X., Xu, W., Zhang, Z., Zhang, J., Guo, H., Jiang, T., & Zhang, W. (2021) · European Radiology · doi:10.1007/s00330-020-07626-7 · Cited by 21

Neurosurgical treatment of tuberous sclerosis complex lesions

Pascual-Castroviejo, I. (2011) · Child s Nervous System · doi:10.1007/s00381-011-1488-8 · Cited by 21

Deciphering the physiopathology of neurodevelopmental disorders using brain organoids

Dionne, O., Sabatié, S., & Laurent, B. (2024) · Brain · doi:10.1093/brain/awae281 · Cited by 22

Kidney cancer: From tumor biology to innovative therapeutics

Rinaldi, L., Senatore, E., Feliciello, S., Chiuso, F., Insabato, L., & Feliciello, A. (2024) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2024.189240 · Cited by 21

Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey

Tritton, T., Bennett, B., Brohan, E., Grant, L., Cooper, A., Fladrowski, C., Evanochko, C., Neary, M. P., Vieira, J., Buffa, V., et al. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2018.11.021 · Cited by 20

Update on Uterine Mesenchymal Neoplasms

Kertowidjojo, E. C., & Bennett, J. A. (2022) · Surgical pathology clinics · doi:10.1016/j.path.2022.02.008 · Cited by 20

Targeting Rb inactivation in cancers by synthetic lethality.

Gordon, G. M., & Du, W. (2011) · PubMed · Cited by 20

Targeted Therapies in Rare Sarcomas

Stacchiotti, S., Marrari, A., Tos, A. P. D., & Casali, P. G. (2013) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2013.07.009 · Cited by 20

Aberrant SYK Kinase Signaling Is Essential for Tumorigenesis Induced by TSC2 Inactivation

Cui, Y., Steagall, W. K., Lamattina, A. M., Pacheco–Rodriguez, G., Stylianou, M. P., Kidambi, P., Stump, B., Golzarri, M. F., Rosas, I. O., Priolo, C., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-16-2755 · Cited by 20

Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development

Jeong, A., & Wong, M. (2017) · Journal of Child Neurology · doi:10.1177/0883073817696814 · Cited by 18

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β

Ogórek, B., Lam, H. C., Khabibullin, D., Liu, H.-J., Nijmeh, J., Triboulet, R., Kwiatkowski, D. J., Gregory, R. I., & Henske, E. P. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy073 · Cited by 20

Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis

Filippakis, H., Belaïd, A., Siroky, B. J., Wu, C., Alesi, N., Hougard, T. R., Nijmeh, J., Lam, H. C., & Henske, E. P. (2018) · Scientific Reports · doi:10.1038/s41598-018-32256-x · Cited by 19

Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Almobarak, S., Al–Muhaizea, M. A., Abukhaled, M., Alyamani, S. A., Dabbagh, O., Chedrawi, A. K., Khan, S., & Aldhalaan, H. (2018) · Translational Neuroscience · doi:10.1515/tnsci-2018-0023 · Cited by 19

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients

Oluwole, O. G., Kuivaniemi, H., Abrahams, S., Haylett, W. L., Vorster, A. A., Heerden, C. J. V., Kenyon, C. P., Tabb, D. L., Fawale, B., Sunmonu, T., et al. (2020) · BMC Medical Genetics · doi:10.1186/s12881-020-0953-1 · Cited by 20

Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup

Liu, Y. J., Houldsworth, J., Emmadi, R., Dyer, L. M., & Wolff, D. J. (2020) · Cancer Genetics · doi:10.1016/j.cancergen.2020.04.004 · Cited by 19

Chemical exchange saturation transfer imaging for epilepsy secondary to tuberous sclerosis complex at 3 T: Optimization and analysis

Wen, Q., Wang, K., Hsu, Y., Xu, Y., Sun, Y., Wu, D., & Zhang, Y. (2021) · NMR in Biomedicine · doi:10.1002/nbm.4563 · Cited by 20

The Clinical Characteristics of Subependymal Giant Cell Astrocytoma: Five Cases

Jung, T., Kim, Y., Jung, S., Baek, H., & Lee, K. (2015) · Brain Tumor Research and Treatment · doi:10.14791/btrt.2015.3.1.44 · Cited by 20

Vigabatrin and Mental Retardation in Tuberous Sclerosis

Yum, M., Lee, E. H., & Ko, T. (2012) · Journal of Child Neurology · doi:10.1177/0883073812446485 · Cited by 20

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

Bahl, S., Chiang, C., Beauchamp, R. L., Neale, B. M., Daly, M. J., Gusella, J. F., Talkowski, M. E., & Ramesh, V. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-5 · Cited by 20

Stochastic Model of Tsc1 Lesions in Mouse Brain

Prabhakar, S., Goto, J., Zuang, X., Sena‐Esteves, M., Bronson, R. T., Brockmann, J., Gianni, D., Wojtkiewicz, G. R., Chen, J. W., Stemmer-Rachamimov, A. O., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064224 · Cited by 20

Cerebral Diffusion Tensor MR Tractography in Tuberous Sclerosis Complex: Correlation with Neurologic Severity and Tract-Based Spatial Statistical Analysis

Wong, A. M., Wang, H.-S., Schwartz, E., Toh, C., Zimmerman, R. A., Liu, P.-L., Wu, Y.-M., Ng, S., & Wang, J. (2013) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3507 · Cited by 20

Chapter 3 Acquisition of Membrane Polarity in Epithelial Tube Formation

Martín‐Belmonte, F., & Rodriguez-Fraticelli, A. (2009) · International review of cytology · doi:10.1016/s1937-6448(08)02003-0 · Cited by 20

Tuberin, p27 and mTOR in different cells

Burgstaller, S., Rosner, M., Lindengrün, C., Hanneder, M., Siegel, N., Valli, A., Fuchs, C., & Hengstschläger, M. (2008) · Amino Acids · doi:10.1007/s00726-008-0066-1 · Cited by 20

The Tsc1–Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels: Figure 1.Preprint

Wildonger, J., Jan, L. Y., & Jan, Y. N. (2008) · Genes & Development · doi:10.1101/gad.1724108 · Cited by 18

Genetic Basis of Bilateral Renal Cancer: Implications for Evaluation and Management

Linehan, W. M. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2009.23.0045 · Cited by 20

Sclerotic bone lesions as a potential imaging biomarker for the diagnosis of tuberous sclerosis complex

Brakemeier, S., Vogt, L., Adams, L. C., Zukunft, B., Diederichs, G., Hamm, B., Budde, K., Eckardt, K., & Makowski, M. R. (2018) · Scientific Reports · doi:10.1038/s41598-018-19399-7 · Cited by 19

Expression of inhibitor proteins that control primordial follicle reserve decreases in cryopreserved ovaries after autotransplantation

Celik, S., Celikkan, F. T., Özkavukçu, S., Can, A., & Çelik-Özenci, Ç. (2018) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-018-1140-6 · Cited by 19

mTOR pathway activation in focal cortical dysplasia

Kumari, K., Sharma, M. C., Kakkar, A., Malgulwar, P. B., Pathak, P., Suri, V. S., Sarkar, C., Chandra, S. P., & Faruq, M. (2020) · Annals of Diagnostic Pathology · doi:10.1016/j.anndiagpath.2020.151523 · Cited by 19

Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex

Bollo, R. J., Berliner, J. L., Fischer, I., Miles, D. K., Thiele, E. A., Zagzag, D., & Weiner, H. L. (2009) · Journal of Neurosurgery Pediatrics · doi:10.3171/2009.3.peds08225 · Cited by 19

Regulation of PI 3-K, PTEN, p53, and mTOR in Malignant and Benign Tumors Deficient in Tuberin

Habib, S. L., Yadav, A., Mahimainathan, L., & Valente, A. J. (2011) · Genes & Cancer · doi:10.1177/1947601912445376 · Cited by 19

Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness

Ponce, G. R. D. G., Herranz, C., Lope, A. L., Boni, J., Serra-Musach, J., Mateo, F., Aguilar, H., Gómez‐Baldó, L., Petit, A., Vidal, A., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0132546 · Cited by 19

Koenen Tumors in Tuberous Sclerosis

Liebman, J. J., Nigro, L. C., & Matthews, M. S. (2013) · Annals of Plastic Surgery · doi:10.1097/sap.0b013e31828d757d · Cited by 19

Perivascular epithelial cell tumor (PEComa) of the pancreas: a case report and review of previous literatures

Mizuuchi, Y., Nishihara, K., Hayashi, A., Tamiya, S., Toyoshima, S., Oda, Y., & Nakano, T. (2016) · Surgical Case Reports · doi:10.1186/s40792-016-0186-x · Cited by 19

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing

Fujita, A., Ando, K., Kobayashi, E., Mitani, K., Okudera, K., Nakashima, M., Miyatake, S., Tsurusaki, Y., Saitsu, H., Seyama, K., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1611-0 · Cited by 19

Fibroma-like PEComa

Larque, A. B., Kradin, R. L., Chebib, I. A., Nielsen, G. P., Selig, M. K., Thiele, E. A., Stemmer-Rachamimov, A. O., Bredella, M. A., Kurzawa, P., & Deshpande, V. (2018) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000001024 · Cited by 19

Effect of beta-agonists on LAM progression and treatment

Le, K., Steagall, W. K., Stylianou, M. P., Pacheco–Rodriguez, G., Darling, T. N., Vaughan, M. M., & Moss, J. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1719960115 · Cited by 19

Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images

Park, H. J., Chae, E. J., Do, K., Lee, S. M., & Song, J. W. (2019) · American Journal of Roentgenology · doi:10.2214/ajr.18.20232 · Cited by 19

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61

Zarei, M., Giannikou, K., Du, H., Liu, H.-J., Duarte, M., Johnson, S. H., Nassar, A. H., Widlund, H. R., Henske, E. P., Long, H. W., et al. (2020) · Oncogene · doi:10.1038/s41388-020-01504-8 · Cited by 21

Human pluripotent stem cell-derived brain organoids as in vitro models for studying neural disorders and cancer

Luo, J., & Li, P. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00617-1 · Cited by 20

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

Cabrera-López, C., Bullich, G., Martí, T., Catalá, V., Ballarín, J., Bissler, J. J., Harris, P. C., Ars, E., & Torrá, R. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0185-y · Cited by 19

Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia

Patil, V., Guzmán, M. A., Carter, A. N., Rathore, G., Yoshor, D., Curry, D. J., Wilfong, A. A., Agadi, S., Swann, J. W., Adesina, A. M., et al. (2015) · Neuropathology · doi:10.1111/neup.12242 · Cited by 19

Significance of tuber size for complications of tuberous sclerosis complex

Pascual-Castroviejo, I., Hernández-Moneo, J. L., Pascual, S. I. P., Viano, J. C., Gutiérrez-Molina, M., Velázquez-Fragua, R., Tapia, D. Q., & Bastos, C. M. (2013) · Neurología (English Edition) · doi:10.1016/j.nrleng.2013.10.013 · Cited by 19

Cardiac fat‐containing lesions are common in tuberous sclerosis complex

Shaaya, E. A., Hirshberg, J. S., Rabe, O., Thibert, R. L., Inglessis, I., Sharma, A., & Thiele, E. A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36037 · Cited by 19

Dermatologic surgery emergencies

Minkis, K., Whittington, A., & Alam, M. (2016) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2015.11.054 · Cited by 19

mTORC1 Activation by Loss of Tsc1 in Myelinating Glia Causes Downregulation of Quaking and Neurofascin 155 Leading to Paranodal Domain Disorganization

Shi, Q., Saifetiarova, J., Taylor, A. M., & Bhat, M. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00201 · Cited by 19

3D double inversion recovery MR imaging: Clinical applications and usefulness in a wide spectrum of central nervous system diseases

Umino, M., Maeda, M., Ii, Y., Tomimoto, H., & Sakuma, H. (2018) · Journal of Neuroradiology · doi:10.1016/j.neurad.2018.06.002 · Cited by 21

Effects of Prolactin on TSC2 -Null Eker Rat Cells and in Pulmonary Lymphangioleiomyomatosis

Terasaki, Y., Yahiro, K., Pacheco–Rodriguez, G., Steagall, W. K., Stylianou, M. P., Evans, J. F., Walker, A. M., & Moss, J. (2010) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200911-1737oc · Cited by 19

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

Alsowat, D., Whitney, R., Hewson, S., Jain, P., Chan, V. W., Kabir, N., Amburgey, K., Noone, D. G., Lemaire, M. J., McCoy, B., et al. (2021) · Child Neurology Open · doi:10.1177/2329048x211012817 · Cited by 18

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

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