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NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors.
Byrgazov K, Kastner R, Gorna M, Hoermann G, Koenig M, Lucini CB, Ulreich R, Benesch M, Strenger V, Lackner H, Schwinger W, Sovinz P, Haas OA, van den Heuvel-Eibrink M, Niemeyer CM, Hantschel O, Valent P, Superti-Furga G, Urban C, Dworzak MN, Lion T. Byrgazov K, et al. Among authors: gorna m. Leukemia. 2017 Jan;31(1):237-240. doi: 10.1038/leu.2016.250. Epub 2015 Aug 30. Leukemia. 2017. PMID: 27573554 Free PMC article. No abstract available.
IFITs: Emerging Roles as Key Anti-Viral Proteins.
Vladimer GI, Górna MW, Superti-Furga G. Vladimer GI, et al. Front Immunol. 2014 Mar 10;5:94. doi: 10.3389/fimmu.2014.00094. eCollection 2014. Front Immunol. 2014. PMID: 24653722 Free PMC article. Review.
Functional dissection of the TBK1 molecular network.
Goncalves A, Bürckstümmer T, Dixit E, Scheicher R, Górna MW, Karayel E, Sugar C, Stukalov A, Berg T, Kralovics R, Planyavsky M, Bennett KL, Colinge J, Superti-Furga G. Goncalves A, et al. Among authors: gorna mw. PLoS One. 2011;6(9):e23971. doi: 10.1371/journal.pone.0023971. Epub 2011 Sep 8. PLoS One. 2011. PMID: 21931631 Free PMC article.
IFIT1 is an antiviral protein that recognizes 5'-triphosphate RNA.
Pichlmair A, Lassnig C, Eberle CA, Górna MW, Baumann CL, Burkard TR, Bürckstümmer T, Stefanovic A, Krieger S, Bennett KL, Rülicke T, Weber F, Colinge J, Müller M, Superti-Furga G. Pichlmair A, et al. Among authors: gorna mw. Nat Immunol. 2011 Jun 5;12(7):624-30. doi: 10.1038/ni.2048. Nat Immunol. 2011. PMID: 21642987
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Among authors: gorna m. Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808063
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
The PI3K pathway preserves metabolic health through MARCO-dependent lipid uptake by adipose tissue macrophages.
Brunner JS, Vogel A, Lercher A, Caldera M, Korosec A, Pühringer M, Hofmann M, Hajto A, Kieler M, Garrido LQ, Kerndl M, Kuttke M, Mesteri I, Górna MW, Kulik M, Dominiak PM, Brandon AE, Estevez E, Egan CL, Gruber F, Schweiger M, Menche J, Bergthaler A, Weichhart T, Klavins K, Febbraio MA, Sharif O, Schabbauer G. Brunner JS, et al. Among authors: gorna mw. Nat Metab. 2020 Dec;2(12):1427-1442. doi: 10.1038/s42255-020-00311-5. Epub 2020 Nov 16. Nat Metab. 2020. PMID: 33199895
41 results