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Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Giannikou K, et al. Among authors: aronica e. Mod Pathol. 2021 Feb;34(2):264-279. doi: 10.1038/s41379-020-00659-9. Epub 2020 Oct 13. Mod Pathol. 2021. PMID: 33051600 Free PMC article.
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.
Prabowo AS, Anink JJ, Lammens M, Nellist M, van den Ouweland AM, Adle-Biassette H, Sarnat HB, Flores-Sarnat L, Crino PB, Aronica E. Prabowo AS, et al. Among authors: aronica e. Brain Pathol. 2013 Jan;23(1):45-59. doi: 10.1111/j.1750-3639.2012.00616.x. Epub 2012 Aug 30. Brain Pathol. 2013. PMID: 22805177 Free PMC article.
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J. Malik AR, et al. Among authors: aronica e. Acta Neuropathol Commun. 2015 Jul 30;3:48. doi: 10.1186/s40478-015-0225-z. Acta Neuropathol Commun. 2015. PMID: 26220190 Free PMC article.
Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.
Mühlebner A, van Scheppingen J, Hulshof HM, Scholl T, Iyer AM, Anink JJ, van den Ouweland AM, Nellist MD, Jansen FE, Spliet WG, Krsek P, Benova B, Zamecnik J, Crino PB, Prayer D, Czech T, Wöhrer A, Rahimi J, Höftberger R, Hainfellner JA, Feucht M, Aronica E. Mühlebner A, et al. Among authors: aronica e. PLoS One. 2016 Jun 13;11(6):e0157396. doi: 10.1371/journal.pone.0157396. eCollection 2016. PLoS One. 2016. PMID: 27295297 Free PMC article.
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Mills JD, et al. Among authors: aronica e. Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8. Sci Rep. 2017. PMID: 28808237 Free PMC article.
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E. Bongaarts A, et al. Among authors: aronica e. Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10. Oncotarget. 2017. PMID: 29221145 Free PMC article.
566 results