2014
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.
Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.
2014
Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis.
Broséus J,
Lippert E,
Harutyunyan AS,
Jeromin S,
Zipperer E,
Florensa L,
Milosevic JD,
Haferlach T,
Germing U,
Luño E,
Schnittger S,
Kralovics R,
Girodon F.
Leukemia. 2014 Jun;28(6):1374-6. doi: 10.1038/leu.2014.49. Epub 2014 Jan 30.
2014
JAK inhibitor in CALR-mutant myelofibrosis.
Cazzola M,
Kralovics R.
N Engl J Med. 2014 Mar 20;370(12):1169. doi: 10.1056/NEJMc1400499. Comment.
2014
IFITs: Emerging Roles as Key Anti-Viral Proteins.
Vladimer GI,
Górna MW,
Superti-Furga G.
Front Immunol. 2014 Mar 10;5:94. doi: 10.3389/fimmu.2014.00094. eCollection 2014.
2014
Genomic imprinting in mammals.
Barlow DP,
Bartolomei MS.
Cold Spring Harb Perspect Biol. 2014 Feb 1;6(2). pii: a018382. doi: 10.1101/cshperspect.a018382.
2014
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.
Marty C,
Saint-Martin C,
Pecquet C,
Grosjean S,
Saliba J,
Mouton C,
Leroy E,
Harutyunyan AS,
Abgrall JF,
Favier R,
Toussaint A,
Solary E,
Kralovics R,
Constantinescu SN,
Najman A,
Vainchenker W,
Plo I,
Bellanné-Chantelot C.
Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.
2014
Host-cell sensors for Plasmodium activate innate immunity against liver-stage infection.
Liehl P,
Zuzarte-Luís V,
Chan J,
Zillinger T,
Baptista F,
Carapau D,
Konert M,
Hanson KK,
Carret C,
Lassnig C,
Müller M,
Kalinke U,
Saeed M,
Chora AF,
Golenbock DT,
Strobl B,
Prudêncio M,
Coelho LP,
Kappe SH,
Superti-Furga G,
Pichlmair A,
Vigário AM,
Rice CM,
Fitzgerald KA,
Barchet W,
Mota MM.
Nat Med. 2014 Jan;20(1):47-53. doi: 10.1038/nm.3424. Epub 2013 Dec 22.
2014
CD4 T cell lineage integrity is controlled by the histone deacetylases HDAC1 and HDAC2.
Boucheron N,
Tschismarov R,
Goeschl L,
Moser M,
Lagger S,
Sakaguchi S,
Winter M,
Lenz F,
Vitko D,
Breitwieser FP,
Haust L,
Hassan H,
Bennett KL,
Colinge J,
Schreiner W,
Egawa T,
Taniuchi I,
Matthias P,
Seiser C,
Ellmeier W.
Nat Immunol. 2014 May;15(5):439-48. doi: 10.1038/ni.2864. Epub 2014 Mar 30.
2014
Gene therapy for wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Braun CJ,
Boztug K,
Paruzynski A,
Witzel M,
Schwarzer A,
Rothe M,
Modlich U,
Beier R,
Göhring G,
Steinemann D,
Fronza R,
Ball CR,
Haemmerle R,
Naundorf S,
Kühlcke K,
Rose M,
Fraser C,
Mathias L,
Ferrari R,
Abboud MR,
Al-Herz W,
Kondratenko I,
Maródi L,
Glimm H,
Schlegelberger B,
Schambach A,
Albert MH,
Schmidt M,
von Kalle C,
Klein C.
Sci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280.
2014
Exploiting epigenetic vulnerabilities for cancer therapeutics.
Mair B,
Kubicek S,
Nijman SM.
Trends Pharmacol Sci. 2014 Mar;35(3):136-145. doi: 10.1016/j.tips.2014.01.001. Epub 2014 Feb 12. Review.
