 Tuberous Sclerosis
"Tuberous Sclerosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
| Descriptor ID |
D014402
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| MeSH Number(s) |
C04.445.810 C04.651.800 C04.700.632 C10.500.507.875 C10.562.850 C10.574.500.865 C16.131.666.507.875 C16.320.400.880 C16.320.700.636
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| Concept/Terms |
Tuberous Sclerosis- Tuberous Sclerosis
- Sclerosis, Tuberous
- Bourneville Syndrome
- Syndrome, Bourneville
- Bourneville's Disease
- Bourneville's Syndrome
- Bournevilles Syndrome
- Syndrome, Bourneville's
- Tuberous Sclerosis Complex
- Tuberous Sclerosis Complices
- Bourneville-Pringle's Disease
- Bourneville Pringle's Disease
- Bourneville-Pringles Disease
- Disease, Bourneville-Pringle's
- Epiloia
- Epiloias
- Phacomatosis, Bourneville
- Bourneville Phacomatosis
- Phakomatosis, Bourneville
- Bourneville Phakomatosis
- Bourneville Disease
- Bourneville-Pringle Disease
- Bourneville Pringle Disease
- Disease, Bourneville-Pringle
Adenoma Sebaceum- Adenoma Sebaceum
- Adenoma Sebaceums
- Sebaceum, Adenoma
- Sebaceums, Adenoma
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Below are MeSH descriptors whose meaning is more general than "Tuberous Sclerosis".
Below are MeSH descriptors whose meaning is more specific than "Tuberous Sclerosis".
This graph shows the total number of publications written about "Tuberous Sclerosis" by people in this website by year, and whether "Tuberous Sclerosis" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1980 | 1 | 0 | 1 | | 1981 | 1 | 0 | 1 | | 1984 | 1 | 1 | 2 | | 1991 | 2 | 0 | 2 | | 1992 | 2 | 0 | 2 | | 1996 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 2001 | 2 | 0 | 2 | | 2003 | 1 | 1 | 2 | | 2004 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 0 | 1 | 1 | | 2009 | 1 | 0 | 1 | | 2012 | 0 | 1 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2018 | 2 | 0 | 2 | | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Tuberous Sclerosis" by people in Profiles.
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Chong GY, Chedid MT, Potretzke TA, Chebib FT. Massive renal angiomyolipomas in tuberous sclerosis complex. Kidney Int. 2021 Dec; 100(6):1354.
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Maisel K, Merrilees MJ, Atochina-Vasserman EN, Lian L, Obraztsova K, Rue R, Vasserman AN, Zuo N, Angel LF, Gow AJ, Kang I, Wight TN, Eruslanov E, Swartz MA, Krymskaya VP. Immune Checkpoint Ligand PD-L1 Is Upregulated in Pulmonary Lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2018 12; 59(6):723-732.
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Hamer HM, Pfäfflin M, Baier H, Bösebeck F, Franz M, Holtkamp M, Kurlemann G, May TW, Mayer T, Metzner M, Steinhoff BJ, Stodieck S, Straub HB, Weber YG, Brandt C. Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers. Epilepsy Behav. 2018 05; 82:64-67.
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Lukas RV, Wainwright DA, Laterra JJ. Updates from the Neuro-Oncology Section of the 2015 American Neurological Association Annual Meeting. Future Oncol. 2016 Jan; 12(2):143-7.
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Sun P, Liu Z, Krueger D, Kohrman M. Direct medical costs for patients with tuberous sclerosis complex and surgical resection of subependymal giant cell astrocytoma: a US national cohort study. J Med Econ. 2015 May; 18(5):349-56.
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Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Berkowitz N, Anak O, Niolat J, Jozwiak S. Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. Lancet Oncol. 2014 Dec; 15(13):1513-1520.
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Teng JM, Cowen EW, Wataya-Kaneda M, Gosnell ES, Witman PM, Hebert AA, Mlynarczyk G, Soltani K, Darling TN. Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA Dermatol. 2014 Oct; 150(10):1095-101.
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Zhu L, Yang T, Li L, Sun L, Hou Y, Hu X, Zhang L, Tian H, Zhao Q, Peng J, Zhang H, Wang R, Yang Z, Zhang L, Zhao Y. TSC1 controls macrophage polarization to prevent inflammatory disease. Nat Commun. 2014 Sep 01; 5:4696.
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Kingswood JC, Jozwiak S, Belousova ED, Frost MD, Kuperman RA, Bebin EM, Korf BR, Flamini JR, Kohrman MH, Sparagana SP, Wu JY, Brechenmacher T, Stein K, Berkowitz N, Bissler JJ, Franz DN. The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. Nephrol Dial Transplant. 2014 Jun; 29(6):1203-10.
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Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Whittemore VH, Thiele EA, Ford JP, Shah G, Cauwel H, Lebwohl D, Sahmoud T, Jozwiak S. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12; 381(9861):125-32.
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