Selected Publications
Please find below a selection of studies that we supported with next generation sequencing assays, expertise and bioinformatics.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
TASL is the SLC15A4-associated adaptor for IRF5 activation by TLR7-9.
Heinz LX, Lee J, Kapoor U, Kartnig F, Sedlyarov V, Papakostas K, Cesar-Razquin A, Essletzbichler P, Goldmann U, Stefanovic A, Bigenzahn JW, Scorzoni S, Pizzagalli MD, Bensimon A, Müller AC, King FJ, Li J, Girardi E, Mbow ML, Whitehurst CE, Rebsamen M, Superti-Furga G (2020). Nature 581, 316-322. PMID: 32433612
Schick S, Rendeiro AF, Runggatscher K, Ringler A, Boidol B, Hinkel M, Majek P, Vulliard L, Penz T, Parapatics K, Schmidl C, Menche J, Boehmelt G, Petronczki M, Müller AC, Bock C, Kubicek S (2019). Nature Genetics 51, 1399-1410. PMID: 31427792
Klughammer J, Kiesel B, Roetzer T, Fortelny N, Nemc A, Nenning KH, Furtner J, Sheffield NC, Datlinger P, Peter N, Nowosielski M, Augustin M, Mischkulnig M, Ströbel T, Alpar D, Ergüner B, Senekowitsch M, Moser P, Freyschlag CF, Kerschbaumer J, Thomé C, Grams AE, Stockhammer G, Kitzwoegerer M, Oberndorfer S, Marhold F, Weis S, Trenkler J, Buchroithner J, Pichler J, Haybaeck J, Krassnig S, Mahdy Ali K, von Campe G, Payer F, Sherif C, Preiser J, Hauser T, Winkler PA, Kleindienst W, Würtz F, Brandner-Kokalj T, Stultschnig M, Schweiger S, Dieckmann K, Preusser M, Langs G, Baumann B, Knosp E, Widhalm G, Marosi C, Hainfellner JA, Woehrer A, Bock C.Nat Med. 2018 Oct;24(10):1611-1624. doi: 10.1038/s41591-018-0156-x. Epub 2018 Aug 27. PMID: 30150718
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. PMID: 29089570
Artemisinins Target GABAA Receptor Signaling and Impair α Cell Identity.
Li J, Casteels T, Frogne T, Ingvorsen C, Honoré C, Courtney M, Huber KVM, Schmitner N, Kimmel RA, Romanov RA, Sturtzel C, Lardeau CH, Klughammer J, Farlik M, Sdelci S, Vieira A, Avolio F, Briand F, Baburin I, Májek P, Pauler FM, Penz T, Stukalov A, Gridling M, Parapatics K, Barbieux C, Berishvili E, Spittler A, Colinge J, Bennett KL, Hering S, Sulpice T, Bock C, Distel M, Harkany T, Meyer D, Superti-Furga G, Collombat P, Hecksher-Sørensen J, Kubicek S.
Cell. 2017 Jan 12;168(1-2):86-100.e15. doi: 10.1016/j.cell.2016.11.010. Epub 2016 Dec 1. PMID: 27916275
Somatic mutations of calreticulin in myeloproliferative neoplasms.
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R.
N Engl J Med. 2013 Dec 19;369(25):2379-90. doi: 10.1056/NEJMoa1311347. Epub 2013 Dec 10. PMID: 24325356
Medical University of Vienna
Molecular design of hypothalamus development.
Romanov RA, Tretiakov EO, Kastriti ME, Zupancic M, Haring M, Korchynska S, Popadin K, Benevento M, Rebernik P, Lallemend F, Nishimori K, Clotman F, Andrews WD, Parnavelas JG, Farlik M, Bock C, Adameyko I, Hokfelt T, Keimpema E, Harkany T (2020). Nature 582, 246-252. PMID: 32499648
Pirker C, Bilecz A, Grusch M, Mohr T, Heidenreich B, Laszlo V, Stockhammer P, Lotsch-Gojo D, Gojo J, Gabler L, Spiegl-Kreinecker S, Dome B, Steindl A, Klikovits T, Hoda MA, Jakopovic M, Samarzija M, Mohorcic K, Kern I, Kiesel B, Brcic L, Oberndorfer F, Mullauer L, Klepetko W, Schmidt WM, Kumar R, Hegedus B, Berger W (2020). Clinical Cancer Research 26, 3819-3830. PMID: 32317288
B cells sustain inflammation and predict response to immune checkpoint blockade in human melanoma.
Griss J, Bauer W, Wagner C, Simon M, Chen M, Grabmeier-Pfistershammer K, Maurer-Granofszky M, Roka F, Penz T, Bock C, Zhang G, Herlyn M, Glatz K, Laubli H, Mertz KD, Petzelbauer P, Wiesner T, Hartl M, Pickl WF, Somasundaram R, Steinberger P, Wagner SN (2019). Nature Communications 10, 4186. PMID: 31519915
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy.
Weinhofer I, Zierfuss B, Hametner S, Wagner M, Popitsch N, Machacek C, Bartolini B, Zlabinger G, Ohradanova-Repic A, Stockinger H, Köhler W, Höftberger R, Regelsberger G, Forss-Petter S, Lassmann H, Berger J.
Brain. 2018 May 30. doi: 10.1093/brain/awy127. PMID: 29860501
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. 2018 Jan;86:51-61. doi: 10.1016/j.jaut.2017.09.008. Epub 2017 Sep 28. PMID: 28964722
Molecular interrogation of hypothalamic organization reveals distinct dopamine neuronal subtypes.
Romanov RA, Zeisel A, Bakker J, Girach F, Hellysaz A, Tomer R, Alpár A, Mulder J, Clotman F, Keimpema E, Hsueh B, Crow AK, Martens H, Schwindling C, Calvigioni D, Bains JS, Máté Z, Szabó G, Yanagawa Y, Zhang MD, Rendeiro A, Farlik M, Uhlén M, Wulff P, Bock C, Broberger C, Deisseroth K, Hökfelt T, Linnarsson S, Horvath TL, Harkany T.
Nat Neurosci. 2017 Feb;20(2):176-188. doi: 10.1038/nn.4462. Epub 2016 Dec 19. PMID: 27991900
Heller G, Topakian T, Altenberger C, Cerny-Reiterer S, Herndlhofer S, Ziegler B, Datlinger P, Byrgazov K, Bock C, Mannhalter C, Hörmann G, Sperr WR, Lion T, Zielinski CC, Valent P, Zöchbauer-Müller S.
Leukemia. 2016 Sep;30(9):1861-8. doi: 10.1038/leu.2016.143. Epub 2016 May 23. PMID: 27211271
St. Anna Children’s Cancer Research Institute, Ludwig Boltzmann Society
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.
Salzer E, Zoghi S, Kiss MG, Kage F, Rashkova C, Stahnke S, Haimel M, Platzer R, Caldera M, Ardy RC, Hoeger B, Block J, Medgyesi D, Sin C, Shahkarami S, Kain R, Ziaee V, Hammerl P, Bock C, Menche J, Dupre L, Huppa JB, Sixt M, Lomakin A, Rottner K, Binder CJ, Stradal TEB, Rezaei N, Boztug K (2020). Science Immunology 10.1126/sciimmunol.abc3979. PMID: 32646852
STAT5BN642H is a driver mutation for T cell neoplasia.
Pham HTT, Maurer B, Prchal-Murphy M, Grausenburger R, Grundschober E, Javaheri T, Nivarthi H, Boersma A, Kolbe T, Elabd M, Halbritter F, Pencik J, Kazemi Z, Grebien F, Hengstschläger M, Kenner L, Kubicek S, Farlik M, Bock C, Valent P, Müller M, Rülicke T, Sexl V, Moriggl R.
J Clin Invest. 2018 Jan 2;128(1):387-401. doi: 10.1172/JCI94509. Epub 2017 Dec 4. PMID: 29200404
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ.
N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28. PMID: 28657829
Vesely C, Frech C, Eckert C, Cario G, Mecklenbräuker A, Zur Stadt U, Nebral K, Kraler F, Fischer S, Attarbaschi A, Schuster M, Bock C, Cavé H, von Stackelberg A, Schrappe M, Horstmann MA, Mann G, Haas OA, Panzer-Grümayer R.
Leukemia. 2017 Jul;31(7):1491-1501. doi: 10.1038/leu.2016.365. Epub 2016 Nov 30. PMID: 27899802
DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma.
Sheffield NC, Pierron G, Klughammer J, Datlinger P, Schönegger A, Schuster M, Hadler J, Surdez D, Guillemot D, Lapouble E, Freneaux P, Champigneulle J, Bouvier R, Walder D, Ambros IM, Hutter C, Sorz E, Amaral AT, de Álava E, Schallmoser K, Strunk D, Rinner B, Liegl-Atzwanger B, Huppertz B, Leithner A, de Pinieux G, Terrier P, Laurence V, Michon J, Ladenstein R, Holter W, Windhager R, Dirksen U, Ambros PF, Delattre O, Kovar H, Bock C, Tomazou EM.
Nat Med. 2017 Mar;23(3):386-395. doi: 10.1038/nm.4273. Epub 2017 Jan 30. PMID: 28134926
Vienna Biocenter
RANK links thymic regulatory T cells to fetal loss and gestational diabetes in pregnancy.
Paolino M, Koglgruber R, Cronin SJF, Uribesalgo I, Rauscher E, Harreiter J, Schuster M, Bancher-Todesca D, Pranjic B, Novatchkova M, Fededa JP, White AJ, Sigl V, Dekan S, Penz T, Bock C, Kenner L, Holländer GA, Anderson G, Kautzky-Willer A, Penninger JM. Nature. 2021 Jan;589(7842):442-447. doi: 10.1038/s41586-020-03071-0. Epub 2020 Dec 23. PMID: 33361811
An ERK-Dependent Feedback Mechanism Prevents Hematopoietic Stem Cell Exhaustion.
Baumgartner C, Toifl S, Farlik M, Halbritter F, Scheicher R, Fischer I, Sexl V, Bock C, Baccarini M.
Cell Stem Cell. 2018 Jun 1;22(6):879-892.e6. doi: 10.1016/j.stem.2018.05.003. Epub 2018 May 24. PMID: 29804890
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line.
Essletzbichler P, Konopka T, Santoro F, Chen D, Gapp BV, Kralovics R, Brummelkamp TR, Nijman SM, Bürckstümmer T.
Genome Res. 2014 Dec;24(12):2059-65. doi: 10.1101/gr.177220.114. Epub 2014 Nov 4. PMID: 25373145
Other national collaborators
Cell-Type Specificity of Genomic Imprinting in Cerebral Cortex.
Laukoter S, Pauler FM, Beattie R, Amberg N, Hansen AH, Streicher C, Penz T, Bock C, Hippenmeyer S (2020). Neuron 10.1016/j.neuron.2020.06.031. PMID: 32707083
The Role of Alternative Splicing and Differential Gene Expression in Cichlid Adaptive Radiation.
Singh P, Börger C, More H, Sturmbauer C.
Genome Biol Evol. 2017 Oct 1;9(10):2764-2781. doi: 10.1093/gbe/evx204. PMID: 29036566
Feichtinger J, Hernández I, Fischer C, Hanscho M, Auer N, Hackl M, Jadhav V, Baumann M, Krempl PM, Schmidl C, Farlik M, Schuster M, Merkel A, Sommer A, Heath S, Rico D, Bock C, Thallinger GG, Borth N.
Biotechnol Bioeng. 2016 Oct;113(10):2241-53. doi: 10.1002/bit.25990. Epub 2016 Apr 29. PMID: 27072894
International collaborators
SARS-CoV-2 infects and replicates in cells of the human endocrine and exocrine pancreas.
Hasler D, Meduri R, Bak M, Lehmann G, Heizinger L, Wang X, Li ZT, Sement FM, Bruckmann A, Dock-Bregeon AC, Merkl R, Kalb R, Grauer E, Kunstmann E, Zavolan M, Liu MF, Fischer U, Meister G (2020). Molecular Cell 77, 1014-1031 e1013. PMID: 32017898
Lowe R, Barton C, Jenkins CA, Ernst C, Forman O, Fernandez-Twinn DS, Bock C, Rossiter SJ, Faulkes CG, Ozanne SE, Walter L, Odom DT, Mellersh C, Rakyan VK.
Genome Biol. 2018 Feb 16;19(1):22. doi: 10.1186/s13059-018-1397-1. PMID: 29452591
Specification of tissue-resident macrophages during organogenesis.
Mass E, Ballesteros I, Farlik M, Halbritter F, Günther P, Crozet L, Jacome-Galarza CE, Händler K, Klughammer J, Kobayashi Y, Gomez-Perdiguero E, Schultze JL, Beyer M, Bock C, Geissmann F.
Science. 2016 Sep 9;353(6304). pii: aaf4238. doi: 10.1126/science.aaf4238. Epub 2016 Aug 4. PMID: 27492475
Parallel reverse genetic screening in mutant human cells using transcriptomics.
Gapp BV, Konopka T, Penz T, Dalal V, Bürckstümmer T, Bock C, Nijman SM.
Mol Syst Biol. 2016 Aug 1;12(8):879. doi: 10.15252/msb.20166890. PMID: 27482057