2018
Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement? J Pediatr Hematol Oncol.
Kocacik Uygun DF,
Uygun V,
Daloğlu H,
Öztürkmen S,
Karasu G,
Reisli İ,
Sayar E,
Yüksekkaya HA,
Glocker EO,
Boztuğ K,
Yeşilipek A.
2018 Apr 20. doi: 10.1097/MPH.0000000000001165. [Epub ahead of print]
2018
Validating the concept of mutational signatures with isogenic cell models.
Zou X,
Owusu M,
Harris R,
Jackson SP,
Loizou JI,
Nik-Zainal S.
Nat Commun. 2018 May 1;9(1):1744. doi: 10.1038/s41467-018-04052-8.
2018
KREMEN1 Is a Host Entry Receptor for a Major Group of Enteroviruses.
Staring J,
van den Hengel LG,
Raaben M,
Blomen VA,
Carette JE,
Brummelkamp TR.
Cell Host Microbe. 2018 May 9;23(5):636-643.e5. doi: 10.1016/j.chom.2018.03.019. Epub 2018 Apr 19.
2018
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
Serwas NK,
Huemer J,
Dieckmann R,
Mejstrikova E,
Garncarz W,
Litzman J,
Hoeger B,
Zapletal O,
Janda A,
Bennett KL,
Kain R,
Kerjaschky D,
Boztug K.
Front Immunol. 2018 Mar 29;9:588. doi: 10.3389/fimmu.2018.00588. eCollection 2018.
2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM,
Chandra Ardy R,
Kuloğlu Z,
Härter B,
van Haaften-Visser DY,
van der Doef HPJ,
van Hoesel M,
Kansu A,
van Vugt AHM,
Ng M,
Kokke FTM,
Krolo A,
Başaran MK,
Kaya NG,
Aksu AÜ,
Dalgıç B,
Ozcay F,
Baris Z,
Kain R,
Stigter ECA,
Lichtenbelt KD,
Massink MPG,
Duran KJ,
Verheij JBGM,
Lugtenberg D,
Nikkels PGJ,
Brouwer HGF,
Verkade HJ,
Scheenstra R,
Spee B,
Nieuwenhuis EES,
Coffer PJ,
Janecke AR,
van Haaften G,
Houwen RHJ,
Müller T,
Middendorp S,
Boztug K.
Gastroenterology. 2018 Mar 29. pii: S0016-5085(18)30347-0. doi: 10.1053/j.gastro.2018.03.040. [Epub ahead of print]
2018
Human tripartite motif protein 52 is required for cell context-dependent proliferation.
Benke S,
Agerer B,
Haas L,
Stöger M,
Lercher A,
Gabler L,
Kiss I,
Scinicariello S,
Berger W,
Bergthaler A,
Obenauf AC,
Versteeg GA.
Oncotarget. 2018 Feb 5;9(17):13565-13581. doi: 10.18632/oncotarget.24422. eCollection 2018 Mar 2.
2018
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
Cipe FE,
Aydogmus C,
Serwas NK,
Keskindemirci G,
Boztuğ K.
J Clin Immunol. 2018 Apr;38(3):273-277. doi: 10.1007/s10875-018-0487-x. Epub 2018 Mar 21.
2018
Proteogenomic Analysis to Identify Missing Proteins from Haploid Cell Lines.
Lee SE,
Song J,
Bösl K,
Müller AC,
Vitko D,
Bennett KL,
Superti-Furga G,
Pandey A,
Kandasamy RK,
Kim MS.
Proteomics. 2018 Apr;18(8):e1700386. doi: 10.1002/pmic.201700386.
2018
MIRA: An R package for DNA methylation-based inference of regulatory activity.
Lawson JT,
Tomazou EM,
Bock C,
Sheffield NC.
Bioinformatics. 2018 Mar 1. doi: 10.1093/bioinformatics/bty083. [Epub ahead of print]
2018
Chromothripsis in acute myeloid leukemia: biological features and impact on survival.
Fontana MC,
Marconi G,
Feenstra JDM,
Fonzi E,
Papayannidis C,
Ghelli Luserna di Rorá A,
Padella A,
Solli V,
Franchini E,
Ottaviani E,
Ferrari A,
Baldazzi C,
Testoni N,
Iacobucci I,
Soverini S,
Haferlach T,
Guadagnuolo V,
Semerad L,
Doubek M,
Steurer M,
Racil Z,
Paolini S,
Manfrini M,
Cavo M,
Simonetti G,
Kralovics R,
Martinelli G.
Leukemia. 2018 Feb 23. doi: 10.1038/s41375-018-0035-y. [Epub ahead of print]