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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. 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.
Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.
Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL. Julian LM, et al. Among authors: giannikou k. Cancer Res. 2017 Oct 15;77(20):5491-5502. doi: 10.1158/0008-5472.CAN-17-0925. Epub 2017 Aug 22. Cancer Res. 2017. PMID: 28830860 Free PMC article.
Notch transactivates Rheb to maintain the multipotency of TSC-null cells.
Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M. Cho JH, et al. Among authors: giannikou k. Nat Commun. 2017 Nov 29;8(1):1848. doi: 10.1038/s41467-017-01845-1. Nat Commun. 2017. PMID: 29184052 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: giannikou k. Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10. Oncotarget. 2017. PMID: 29221145 Free PMC article.
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. Kim W, et al. Among authors: giannikou k. Eur Respir J. 2019 Jun 27;53(6):1900329. doi: 10.1183/13993003.00329-2019. Print 2019 Jun. Eur Respir J. 2019. PMID: 31000673 Free article.
Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.
Ogórek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Ogórek B, et al. Among authors: giannikou k. Eur Respir J. 2019 Oct 10;54(4):1900938. doi: 10.1183/13993003.00938-2019. Print 2019 Oct. Eur Respir J. 2019. PMID: 31273045 Free PMC article. No abstract available.
Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.
Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY, Sudha P, Adam M, Potter A, Kopras EJ, Giannikou K, Potter SS, Sherman S, Hammes SR, Kwiatkowski DJ, Whitsett JA, McCormack FX, Xu Y. Guo M, et al. Among authors: giannikou k. Am J Respir Crit Care Med. 2020 Nov 15;202(10):1373-1387. doi: 10.1164/rccm.201912-2445OC. Am J Respir Crit Care Med. 2020. PMID: 32603599 Free PMC article.
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. 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.
48 results