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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.
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. Nat Immunol. 2011 Jun 5;12(7):624-30. doi: 10.1038/ni.2048. Nat Immunol. 2011. PMID: 21642987
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. PLoS One. 2011;6(9):e23971. doi: 10.1371/journal.pone.0023971. Epub 2011 Sep 8. PLoS One. 2011. PMID: 21931631 Free PMC article.
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.
Somatic mutations of calreticulin in myeloproliferative neoplasms.
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R. Klampfl T, et al. N Engl J Med. 2013 Dec 19;369(25):2379-90. doi: 10.1056/NEJMoa1311347. Epub 2013 Dec 10. N Engl J Med. 2013. PMID: 24325356 Free article.
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
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
Willmann KL, Klaver S, Doğu F, Santos-Valente E, Garncarz W, Bilic I, Mace E, Salzer E, Conde CD, Sic H, Májek P, Banerjee PP, Vladimer GI, Haskoloğlu S, Bolkent MG, Küpesiz A, Condino-Neto A, Colinge J, Superti-Furga G, Pickl WF, van Zelm MC, Eibel H, Orange JS, Ikincioğulları A, Boztuğ K. Willmann KL, et al. Nat Commun. 2014 Nov 19;5:5360. doi: 10.1038/ncomms6360. Nat Commun. 2014. PMID: 25406581 Free PMC article.
279 results