2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Seidel MG,
Duerr C,
Woutsas S,
Schwerin-Nagel A,
Sadeghi K,
Neesen J,
Uhrig S,
Santos-Valente E,
Pickl WF,
Schwinger W,
Urban C,
Boztug K*,
Förster-Waldl E*.
J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. (*equal contributing authors)
2014
Schmidt L, Wiedner M, Velimezi G, Prochazkova J, Owusu M, Bauer S, Loizou JI.
ATMIN is required for the ATM-mediated signaling and recruitment of 53BP1 to DNA damage sites upon replication stress.
DNA Repair (Amst). 2014 Sep 24. pii: S1568-7864(14)00223-7. doi: 10.1016/j.dnarep.2014.09.001. [Epub ahead of print] PMID: 25262557.
2014
Mazouzi A, Velimezi G, Loizou JI.
DNA replication stress: Causes,
resolution and disease.
Exp Cell Res. 2014 Sep 30. pii: S0014-4827(14)00435-2. doi: 10.1016/j.yexcr.2014.09.030. [Epub ahead of print] Review.PMID: 25281304.
2014
2014
Toward effective sharing of high-dimensional immunology data.
Snijder B,
Kandasamy RK,
Superti-Furga G.
Nat Biotechnol. 2014 Aug;32(8):755-9. doi: 10.1038/nbt.2974.
2014
Stereospecific targeting of MTH1 by (S)-crizotinib as an anticancer strategy.
Huber KV,
Salah E,
Radic B,
Gridling M,
Elkins JM,
Stukalov A,
Jemth AS,
Göktürk C,
Sanjiv K,
Strömberg K,
Pham T,
Berglund UW,
Colinge J,
Bennett KL,
Loizou JI,
Helleday T,
Knapp S,
Superti-Furga G.
Nature. 2014 Apr 10;508(7495):222-7. doi: 10.1038/nature13194. Epub 2014 Apr 2.
2014
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E,
Kansu A,
Sic H,
Májek P,
Ikincioğullari A,
Dogu FE,
Prengemann NK,
Santos-Valente E,
Pickl WF,
Bilic I,
Ban SA,
Kuloğlu Z,
Demir AM,
Ensari A,
Colinge J,
Rizzi M,
Eibel H,
Boztug K.
J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. doi: 10.1016/j.jaci.2014.02.034. Epub 2014 Apr 17.
2014
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.
Wirnsberger G,
Zwolanek F,
Stadlmann J,
Tortola L,
Liu SW,
Perlot T,
Järvinen P,
Dürnberger G,
Kozieradzki I,
Sarao R,
De Martino A,
Boztug K,
Mechtler K,
Kuchler K,
Klein C,
Elling U,
Penninger JM.
Nat Genet. 2014 Sep;46(9):1028-33. doi: 10.1038/ng.3070. Epub 2014 Aug 17.
2014
The solute carrier SLC35F2 enables YM155-mediated DNA damage toxicity.
Winter GE,
Radic B,
Mayor-Ruiz C,
Blomen VA,
Trefzer C,
Kandasamy RK,
Huber KV,
Gridling M,
Chen D,
Klampfl T,
Kralovics R,
Kubicek S,
Fernandez-Capetillo O,
Brummelkamp TR,
Superti-Furga G.
Nat Chem Biol. 2014 Sep;10(9):768-73. doi: 10.1038/nchembio.1590. Epub 2014 Jul 27.
2014
B cells and humoral immunity in atherosclerosis.
Tsiantoulas D,
Diehl CJ,
Witztum JL,
Binder CJ.
Circ Res. 2014 May 23;114(11):1743-56. doi: 10.1161/CIRCRESAHA.113.301145.
