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The Journal of Biological Chemistry|August 9, 2002
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberinHan C Dan, Mei Sun, Lin Yang, et al.
The Journal of Pathology|March 8, 2014
Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signallingIsidre Ferrer, Pooja Mohan, Helen Chen, et al.
Brain Pathology (Zurich, Switzerland)|November 17, 2009
Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factorsKarin Boer, Peter B Crino, Jan A Gorter, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
Molecular Cell|May 11, 2021
TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulationKatharina Fitzian, Anne Brückner, Laura Brohée, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Genotype and brain pathology phenotype in children with tuberous sclerosis complexIris E Overwater, Rob Swenker, Emma L van der Ende, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
Human Mutation|August 21, 2012
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.
Human Mutation|December 26, 2015
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisRosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, et al.
American Journal of Respiratory Cell and Molecular Biology|November 8, 2024
Enhanced Gαq Signaling in TSC2-Deficient Cells Is Required for Their Neoplastic BehaviorAurélie Tréfier, Nihad Tousson-Abouelazm, Lama Yamani, et al.
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