Tuberous sclerosis complex (TSC) is a monogenic disorder caused by mutations in either the TSC1 or TSC2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. Phenotypically, this leads to growth and formation of hamartomas in several organs, including the brain.
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex / Anika Bongaarts, Caroline Mijnsbergen, Jasper J Anink, Floor E Jansen, Wim G M Spliet, Wilfred F A den Dunnen, Roland Coras, Ingmar Blümcke, Werner Paulus, Victoria E Gruber, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Söylemezoğlu, José Pimentel, David T W Jones, Brendon P Scicluna, Antoinette Y N Schouten-van Meeteren, Angelika Mühlebner, James D Mills, Eleonora Aronica. - In: CELLULAR AND MOLECULAR NEUROBIOLOGY. - ISSN 1573-6830. - ELETTRONICO. - (2021), pp. 0-0. [10.1007/s10571-021-01157-5]
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex
Flavio Giordano;
2021
Abstract
Tuberous sclerosis complex (TSC) is a monogenic disorder caused by mutations in either the TSC1 or TSC2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. Phenotypically, this leads to growth and formation of hamartomas in several organs, including the brain.
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