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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: tyburczy me. 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.
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: tyburczy me. Acta Neuropathol Commun. 2015 Jul 30;3:48. doi: 10.1186/s40478-015-0225-z. Acta Neuropathol Commun. 2015. PMID: 26220190 Free PMC article.
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. Giannikou K, et al. Among authors: tyburczy me. PLoS Genet. 2016 Aug 5;12(8):e1006242. doi: 10.1371/journal.pgen.1006242. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27494029 Free PMC article.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Giannikou K, et al. Among authors: tyburczy me. Genet Med. 2021 Oct;23(10):2022. doi: 10.1038/s41436-020-01066-w. Genet Med. 2021. PMID: 33353975 Free article. No abstract available.
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Treichel AM, et al. Among authors: tyburczy me. Genet Med. 2019 Nov;21(11):2594-2604. doi: 10.1038/s41436-019-0520-3. Epub 2019 May 22. Genet Med. 2019. PMID: 31114024 Free PMC article.
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