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2019

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Bal SK, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Stefanija MA, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MR, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation (EBMT) and the European Society of Immunodeficiencies (ESID).
J Allergy Clin Immunol. 2019 Dec 27. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896.
2019

CDK6 coordinates JAK2V617F mutant MPN via NF-κB and apoptotic networks.

Uras IZ, Maurer B, Nivarthi H, Jodl P, Kollmann K, Prchal-Murphy M, Milosevic Feenstra JD, Zojer M, Lagger S, Grausenburger R, Grabner B, Holly R, Kavirayani A, Bock C, Gisslinger H, Valent P, Kralovics R, Sexl V.
 Blood. 2019;133(15):1677–1690. doi:10.1182/blood-2018-08-872648
2019

Cancer-associated fibroblast-derived WNT2 increases tumor angiogenesis in colon cancer.

Unterleuthner D, Neuhold P, Schwarz K, Janker L, Neuditschko B, Nivarthi H, Crncec I, Kramer N, Unger C, Hengstschläger M, Eferl R, Moriggl R, Sommergruber W, Gerner C, Dolznig H.
Angiogenesis. 2019 Oct 30. doi: 10.1007/s10456-019-09688-8.
2019

Proposed diagnostic criteria for classical chronic myelomonocytic leukemia (CMML), CMML variants and pre-CMML conditions.

Valent P, Orazi A, Savona MR, Patnaik MM, Onida F, van de Loosdrecht AA, Haase D, Haferlach T, Elena C, Pleyer L, Kern W, Pemovska T, Vladimer GI, Schanz J, Keller A, Lübbert M, Lion T, Sotlar K, Reiter A, De Witte T, Pfeilstöcker M, Geissler K, Padron E, Deininger M, Orfao A, Horny HP, Greenberg PL, Arber DA, Malcovati L, Bennett JM.
Haematologica. 2019 Oct;104(10):1935-1949. doi: 10.3324/haematol.2019.222059.
2019

Systematic characterization of BAF mutations provides insights into intracomplex synthetic lethalities in human cancers.

Schick S, Rendeiro AF, Runggatscher K, Ringler A, Boidol B, Hinkel M, Májek P, Vulliard L, Penz T, Parapatics K, Schmidl C, Menche J, Boehmelt G, Petronczki M, Müller AC, Bock C, Kubicek S.
 Nat Genet. 2019;51(9):1399–1410. doi:10.1038/s41588-019-0477-9
2019

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.

Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K.
Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644.
2019

Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection.

Ulz P, Perakis S, Zhou Q, Moser T, Belic J, Lazzeri I, Wölfler A, Zebisch A, Gerger A, Pristauz G, Petru E, White B, Roberts CES, John JS, Schimek MG, Geigl JB, Bauernhofer T, Sill H, Bock C, Heitzer E, Speicher MR.
 Nat Commun. 2019;10(1):4666. Published 2019 Oct 11. doi:10.1038/s41467-019-12714-4
2019

Klebsiella oxytoca enterotoxins tilimycin and tilivalline have distinct host DNA-damaging and microtubule-stabilizing activities.

Unterhauser K, Pöltl L, Schneditz G, Kienesberger S, Glabonjat RA, Kitsera M, Pletz J, Josa-Prado F, Dornisch E, Lembacher-Fadum C, Roier S, Gorkiewicz G, Lucena D, Barasoain I, Kroutil W, Wiedner M, Loizou JI, Breinbauer R, Díaz JF, Schild S, Högenauer C, Zechner EL.
Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3774-3783. doi: 10.1073/pnas.1819154116.
2019

Chromatin-Based Classification of Genetically Heterogeneous AMLs into Two Distinct Subtypes with Diverse Stemness Phenotypes.

Yi G, Wierenga ATJ, Petraglia F, Narang P, Janssen-Megens EM, Mandoli A, Merkel A, Berentsen K, Kim B, Matarese F, Singh AA, Habibi E, Prange KHM, Mulder AB, Jansen JH, Clarke L, Heath S, van der Reijden BA, Flicek P, Yaspo ML, Gut I, Bock C, Schuringa JJ, Altucci L, Vellenga E, Stunnenberg HG, Martens JHA.
 Cell Rep. 2019;26(4):1059–1069.e6. doi:10.1016/j.celrep.2018.12.098
2019

Genome-scale CRISPR screens are efficient in non-homologous end-joining deficient cells.

Ferreira da Silva J, Salic S, Wiedner M, Datlinger P, Essletzbichler P, Hanzl A, Superti-Furga G, Bock C, Winter G, Loizou JI.
Sci Rep. 2019 Oct 31;9(1):15751. doi: 10.1038/s41598-019-52078-9.