• 1.

    Davis PE, et al. Presentation and diagnosis of tuberous sclerosis complex in infants. Pediatrics 2017; 140:e20164040. doi: 10.1542/peds.2016-4040

  • 2.

    Bissler JJ, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008; 358:140151. doi: 10.1056/NEJ-Moa063564

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3.

    Bissler JJ, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): A multicentre, randomised, double-blind, placebo-controlled trial. Lancet 2013; 381:817824. doi: 10.1016/S0140-6736(12)61767-X

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4.

    Franz DN, et al. 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; 381:125132. doi: 10.1016/S0140-6736(12)61134-9

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 5.

    French JA, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): A phase 3, randomised, double-blind, placebo-controlled study. Lancet 2016; 388:21532163. doi: 10.1016/S0140-6736(16)31419-2

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6.

    Kingswood JC, et al. Review of the tuberous sclerosis renal guidelines from the 2012 Consensus Conference: Current data and future study. Nephron 2016; 134:5158. doi: 10.1159/000448293

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 7.

    Siroky BJ, et al. Improvement in renal cystic disease of tuberous sclerosis complex after treatment with mammalian target of rapamycin inhibitor. J Pediatr 2017; 187:318-322.e2. doi: 10.1016/j.jpeds.2017.05.015

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8.

    Nechama M, et al. Rapamycin and dexamethasone during pregnancy prevent tuberous sclerosis complex-associated cystic kidney disease. JCI Insight 2020; 5:e136857. doi: 10.1172/jci.insight.136857

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 9.

    Volovelsky O, et al. Hamartin regulates cessation of mouse nephrogenesis independently of mTOR. Proc Natl Acad Sci USA 2018; 115:59986003. doi: 10.1073/pnas.1712955115

    • PubMed
    • Search Google Scholar
    • Export Citation

Targeting the Molecular Mechanisms of Tuberous Sclerosis

Oded Volovelsky Oded Volovelsky is with the Pediatric Nephrology Unit and Research Lab, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel. Bradley Dixon is with the Renal Section, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.

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Bradley Dixon Oded Volovelsky is with the Pediatric Nephrology Unit and Research Lab, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel. Bradley Dixon is with the Renal Section, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.

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