Results 1 to 10 of about 358,265 (351)

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Orphanet Journal of Rare Diseases, 2022
Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai   +8 more
doaj   +2 more sources

Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]

Anais Brasileiros de Dermatologia, 2018
: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado   +4 more
doaj   +2 more sources

Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures [PDF]

Epilepsia, 2018
ObjectiveThe present analysis examined the exposure-response relationship by means of the predose everolimus concentration (C-min) and the seizure response in patients with tuberous sclerosis complex-associated seizures in the EXIST-3 study ...
Brandt, Christian, Cheung, Wing, Coello, Neva, Franz, David N, French, Jacqueline A, Grosch, Kai, Kohrman, Michael H, Lawson, John A, Milh, Mathieu, Voi, Maurizio, Wiemer-Kruel, Adelheid, Wong, Michael, Yapici, Zuhal   +12 more
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A child with tuberous sclerosis having Novel NRAS gene mutation [PDF]

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +2 more sources

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

Nature Medicine, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +3 more sources

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis? [PDF]

Clinical Case Reports
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal, Shraddha Uprety, Mukesh Kumar Ranjan, Pratichya Thapa, Bigyan Paudel, Prakriti Lamichhane   +5 more
doaj   +2 more sources

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness [PDF]

Nephrology, Dialysis and Transplantation, 2018
BACKGROUND: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications.
Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D' Amato, L, d'Augères, GB, Dahlin, M, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jansen, AC, Jozwiak, S, Kingswood, JC, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, TOSCA Consortium and TOSCA Investigators, Touraine, R, Youroukos, S, Zonnenberg, B   +29 more
core   +2 more sources

Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex [PDF]

, 2012
Background and Objectives: Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates
Hebert, Adelaide A., Koenig, Mary Kay, Northrup, Hope, Roberson, Joan, Samuels, Joshua, Slopis, John, Woerner, Audrey C   +6 more
core   +2 more sources

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments

Frontiers in Medicine, 2022
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of ...
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Markus Knuf, Sam Amin   +5 more
doaj   +1 more source

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial

Annals of Neurology, 2023
This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age.
E. Bebin, Jurriaan M. Peters, Brenda E. Porter, Tarrant Mcpherson, S. O’Kelley, M. Sahin, Katherine S. Taub, R. Rajaraman, S. Randle, William M. McClintock, Mary Kay Koenig, Mike D. Frost, H. Northrup, Klaus Werner, Danielle A. Nolan, M. Wong, Jessica L. Krefting, F. Biasini, K. Peri, G. Cutter, D. Krueger   +20 more
semanticscholar   +1 more source