2017
WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.
Pfajfer L,
Seidel MG,
Houmadi R,
Rey-Barroso J,
Hirschmugl T,
Salzer E,
Antón IM,
Urban C,
Schwinger W,
Boztug K,
Dupré L.
Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. Epub 2017 Sep 13. No abstract available.
2017
Mutations in myeloproliferative neoplasms - their significance and clinical use.
Schischlik F,
Kralovics R.
Expert Rev Hematol. 2017 Nov;10(11):961-973. doi: 10.1080/17474086.2017.1380515. Epub 2017 Sep 25.
2017
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
Kostel Bal S,
Haskologlu S,
Serwas NK,
Islamoglu C,
Aytekin C,
Kendirli T,
Kuloglu Z,
Yavuz G,
Dalgic B,
Siklar Z,
Kansu A,
Ensari A,
Boztug K,
Dogu F,
Ikinciogullari A.
J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27.
2017
A T cell-specific deletion of HDAC1 protects against experimental autoimmune encephalomyelitis.
Göschl L,
Preglej T,
Hamminger P,
Bonelli M,
Andersen L,
Boucheron N,
Gülich AF,
Müller L,
Saferding V,
Mufazalov IA,
Hirahara K,
Seiser C,
Matthias P,
Penz T,
Schuster M,
Bock C,
Waisman A,
Steiner G,
Ellmeier W.
J Autoimmun. 2017 Sep 27. pii: S0896-8411(17)30595-4. doi: 10.1016/j.jaut.2017.09.008. [Epub ahead of print]
2017
Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia.
Moder M,
Velimezi G,
Owusu M,
Mazouzi A,
Wiedner M,
Ferreira da Silva J,
Robinson-Garcia L,
Schischlik F,
Slavkovsky R,
Kralovics R,
Schuster M,
Bock C,
Ideker T,
Jackson SP,
Menche J,
Loizou JI.
Nat Commun. 2017 Nov 1;8(1):1238. doi: 10.1038/s41467-017-01439-x.
2017
Blood-derived macrophages prone to accumulate lysosomal lipids trigger oxLDL-dependent murine hepatic inflammation.
Houben T,
Oligschlaeger Y,
Bitorina AV,
Hendrikx T,
Walenbergh SMA,
Lenders MH,
Gijbels MJJ,
Verheyen F,
Lütjohann D,
Hofker MH,
Binder CJ,
Shiri-Sverdlov R.
Sci Rep. 2017 Oct 2;7(1):12550. doi: 10.1038/s41598-017-13058-z.
2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C,
Sahoo SS,
Rizzi M,
Hirabayashi S,
Karow A,
Serwas NK,
Hoemberg M,
Damatova N,
Schindler D,
Vannier JB,
Boulton SJ,
Pannicke U,
Göhring G,
Thomay K,
Verdu-Amoros JJ,
Hauch H,
Woessmann W,
Escherich G,
Laack E,
Rindle L,
Seidl M,
Rensing-Ehl A,
Lausch E,
Jandrasits C,
Strahm B,
Schwarz K,
Ehl SR,
Niemeyer C,
Boztug K,
Wlodarski MW.
Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 02;8:1250.
2017
LAMTOR/Ragulator is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning.
Filipek PA,
de Araujo MEG,
Vogel GF,
De Smet CH,
Eberharter D,
Rebsamen M,
Rudashevskaya EL,
Kremser L,
Yordanov T,
Tschaikner P,
Fürnrohr BG,
Lechner S,
Dunzendorfer-Matt T,
Scheffzek K,
Bennett KL,
Superti-Furga G,
Lindner HH,
Stasyk T,
Huber LA.
J Cell Biol. 2017 Oct 9. pii: jcb.201703061. doi: 10.1083/jcb.201703061. [Epub ahead of print]
2017
The fitness cost of mis-splicing is the main determinant of alternative splicing patterns.
Saudemont B,
Popa A,
Parmley JL,
Rocher V,
Blugeon C,
Necsulea A,
Meyer E,
Duret L.
Genome Biol. 2017 Oct 30;18(1):208. doi: 10.1186/s13059-017-1344-6.
2017
Integrating personalized gene expression profiles into predictive disease-associated gene pool.
J Menche*,
E Guney*,
A.
npj Systems Biology & Applications 3:10; 2017. doi:10.1038/s41540-017-0009-0.
