Browse by Research Team

2024

Liver transcriptome analysis reveals PSC-attributed gene set associated with fibrosis progression.
Laschtowitz, A., Lindberg, E.L., Liebhoff, A.M., Liebig, L.A., Casar, C., Steinmann, S., Guillot, A., Xu, J., Schwinge, D., Trauner, M., Lohse, A.W., Bonn, S., Hübner, N. and Schramm, C.
JHEP Reports : 101267. 12 November 2024 (In Press)

Amplification of autoimmune organ damage by NKp46-activated ILC1.
Biniaris-Georgallis, S.I., Aschman, T., Stergioula, K., Schreiber, F., Jafari, V., Taranko, A., Karmalkar, T., Kasapi, A., Lenac Rovis, T., Jelencic, V., Bejarano, D.A., Fabry, L., Papacharalampous, M., Mattiola, I., Molgora, M., Hou, J., Hublitz, K.W., Heinrich, F., Guerra, G.M., Durek, P., Patone, G., Lindberg, E.L.H., Maatz, H., Hölsken, O., Krönke, G., Mortha, A., Voll, R.E., Clarke, A.J., Hauser, A.E., Colonna, M., Thurley, K., Schlitzer, A., Schneider, C., Stamatiades, E.G., Mashreghi, M.F., Jonjic, S., Hübner, N., Diefenbach, A., Kanda, M. and Triantafyllopoulou, A.
Nature 634 (8035): 952-960. 24 October 2024

Interleukin 11 therapy causes acute left ventricular dysfunction.
Sweeney, M., O’Fee, K., Villanueva-Hayes, C., Rahman, E., Lee, M., Tam, C.N., Pascual-Navarro, E., Maatz, H., Lindberg, E.L., Vanezis, K., Ramachandra, C.J., Andrew, Iv., Jennings, E.R., Lim, W.W., Widjaja, A.A., Carling, D., Hausenloy, D.J., Hubner, N., Barton, P.J.R. and Cook, S.A.
Cardiovascular Research : cvae224. 9 October 2024 (In Press)

Evolution of translational control and the emergence of genes and open reading frames in human and non-human primate hearts.
Ruiz-Orera, J., Miller, D.C., Greiner, J., Genehr, C., Grammatikaki, A., Blachut, S., Mbebi, J., Patone, G., Myronova, A., Adami, E., Dewani, N., Liang, N., Hummel, O., Mücke, M.B., Hildebrandt, T.B., Fritsch, G., Schrade, L., Zimmermann, W.H., Kondova, I., Diecke, S., van Heesch, S. and Hübner, N.
Nature Cardiovascular Research 3 (10): 1217-1235. October 2024

High-quality peptide evidence for annotating non-canonical open reading frames as human proteins.
Deutsch, Eric W, Kok, Leron W, Mudge, Jonathan M, Ruiz-Orera, J., Fierro-Monti, Ivo, Sun, Zhi, Abelin, Jennifer G, Alba, M Mar, Aspden, Julie L, Bazzini, Ariel A, Bruford, Elspeth, Brunet, Marie A, Calviello, L., Carr, Steven A, Carvunis, Anne-Ruxandra, Chothani, Sonia, Clauwaert, Jim, Dean, Kellie, Faridi, Pouya, Frankish, Adam, Hubner, N., Ingolia, Nicholas, Magrane, Michele, Martin, Maria Jesus, Martinez, Thomas F, Menschaert, Gerben, Ohler, U., Orchard, Sandra, Rackham, Owen, Roucou, Xavier, Slavoff, Sarah A, Valen, Eivind, Wacholder, Aaron C, Weissman, Jonathan S., Wu, Wei, Xie, Zhi, Choudhary, Jyoti, Bassani-Sternberg, Michal, Vizcaino, Juan Antonio, Ternette, Nicola, Moritz, Robert L., Prensner, John and van Heesch, S.
bioRxiv : 2024.09.09.612016. 9 September 2024

Intramyocardial sprouting tip cells specify coronary arterialization.
Cano, E., Schwarzkopf, J., Kanda, M., Lindberg, E.L., Hollfinger, I., Pogontke, C., Braeuning, C., Fischer, C., Hübner, N. and Gerhardt, H.
Circulation Research 135 (6): 671-684. 30 August 2024

Converting PROMIS®-29 v2.0 profile data to SF-36 physical and mental component summary scores in patients with cardiovascular disorders.
Liegl, G., Fischer, F.H., Martin, C.N., Rönnefarth, M., Blumrich, A., Ahmadi, M., Boldt, L.H., Eckardt, K.U., Endres, M., Edelmann, F., Gerhardt, H., Grittner, U., Haghikia, A., Hübner, N., Landmesser, U., Leistner, D., Mai, K., Kollmus-Heege, J., Müller, D.N., Nolte, C.H., Piper, S.K., Schmidt-Ott, K.M., Pischon, T., Rattan, S., Rohrpasser-Napierkowski, Ira, Schönrath, K., Schulz-Menger, J., Schweizerhof, O., Spranger, J., Weber, J.E., Witzenrath, M., Schmidt, S. and Rose, M.
Health and Quality of Life Outcomes 22 (1): 64. 15 August 2024

PITX2 deficiency leads to atrial mitochondrial dysfunction.
Reyat, J.S., Sommerfeld, L.C., O'Reilly, M., Cardoso, V.R., Thiemann, E., Khan, A.O., O'Shea, C., Harder, S., Müller, C., Barlow, J., Stapley, R.J., Chua, W., Kabir, S.N., Grech, O., Hummel, O., Hübner, N., Kääb, S., Mont, Ll., Hatem, S.N., Winters, J., Zeemering, S., Morgan, N.V., Rayes, J., Gehmlich, K., Stoll, M., Brand, T., Schweizer, M., Piasecki, A., Schotten, U., Gkoutos, G.V., Lorenz, K., Cuello, F., Kirchhof, P. and Fabritz, L.
Cardiovascular Research : cvae169. 12 August 2024 (In Press)

Inhibition of IL-11 signalling extends mammalian healthspan and lifespan.
Widjaja, A.A., Lim, W.W., Viswanathan, S., Chothani, S., Corden, B., Dasan, C.M., Goh, J.W.T., Lim, R., Singh, B.K., Tan, J., Pua, C.J., Lim, S.Y., Adami, E., Schafer, S., George, B.L., Sweeney, M., Xie, C., Tripathi, M., Sims, N.A., Hübner, N., Petretto, E., Withers, D.J., Ho, L., Gil, J., Carling, D. and Cook, S.A.
Nature 632 (8023): 157-165. 1 August 2024

Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
Poch, T., Bahn, J., Casar, C., Krause, J., Evangelakos, I., Gilladi, H., Kunzmann, L.K., Laschtowitz, A., Iuso, N., Schäfer, A.M., Liebig, L.A., Steinmann, S., Sebode, M., Folseraas, T., Engesæter, L.K., Karlsen, T.H., Franke, A., Hubner, N., Schlein, C., Galun, E., Huber, S., Lohse, A.W., Gagliani, N., Schwinge, D. and Schramm, C.
Cell Reports Medicine 5 (7): 101620. 16 July 2024

Mechanosensitive PIEZO2 channels shape coronary artery development.
Pampols-Perez, M., Fürst, C., Sánchez-Carranza, O., Cano, E., Raimundo, S., Lindberg, E.L., Taube, M., Heuser, A., Sporbert, A., Hübner, N., Gerhardt, H., Lewin, G.R. and Hammes, A.
bioRxiv : 2024.07.08.602502. 11 July 2024

Microproteins encoded by noncanonical ORFs are a major source of tumor-specific antigens in a liver cancer patient meta-cohort.
Camarena, M.E., Theunissen, P., Ruiz, M., Ruiz-Orera, J., Calvo-Serra, B., Castelo, R., Castro, C., Sarobe, P., Fortes, P., Perera-Bel, J. and Albà, M.M.
Science Advances 10 (28): eadn3628. July 2024

Multiomic analyses uncover immunological signatures in acute and chronic coronary syndromes.
Pekayvaz, K., Losert, C., Knottenberg, V., Gold, C., van Blokland, I.V., Oelen, R., Groot, H.E., Benjamins, J.W., Brambs, S., Kaiser, R., Gottschlich, A., Hoffmann, G.V., Eivers, L., Martinez-Navarro, A., Bruns, N., Stiller, S., Akgöl, S., Yue, K., Polewka, V., Escaig, R., Joppich, M., Janjic, A., Popp, O., Kobold, S., Petzold, T., Zimmer, R., Enard, W., Saar, K., Mertins, P., Huebner, N., van der Harst, P., Franke, L.H., van der Wijst, M.G.P., Massberg, S., Heinig, M., Nicolai, L. and Stark, K.
Nature Medicine 30 (6): 1696-1710. June 2024

The challenges of research data management in cardiovascular science: a DGK and DZHK position paper-executive summary.
Steffens, S., Schröder, K., Krüger, M., Maack, C., Streckfuss-Bömeke, K., Backs, J., Backofen, R., Baeßler, B., Devaux, Y., Gilsbach, R., Heijman, J., Knaus, J., Kramann, R., Linz, D., Lister, A.L., Maatz, H., Maegdefessel, L., Mayr, M., Meder, B., Nussbeck, S.Y., Rog-Zielinska, E.A., Schulz, M.H., Sickmann, A., Yigit, G. and Kohl, P.
Clinical Research in Cardiology 113 (5): 672-679. May 2024

Peripheral priming induces plastic transcriptomic and proteomic responses in circulating neutrophils required for pathogen containment.
Kaiser, R., Gold, C., Joppich, M., Loew, Q., Akhalkatsi, A., Mueller, T.T., Offensperger, F., Droste Zu Senden, A., Popp, O., di Fina, L., Knottenberg, V., Martinez-Navarro, A., Eivers, L., Anjum, A., Escaig, R., Bruns, N., Briem, E., Dewender, R., Muraly, A., Akgöl, S., Ferraro, B., Hoeflinger, J.K.L., Polewka, V., Khaled, N.B., Allgeier, J., Tiedt, S., Dichgans, M., Engelmann, B., Enard, W., Mertins, P., Hubner, N., Weckbach, L., Zimmer, R., Massberg, S., Stark, K., Nicolai, L. and Pekayvaz, K.
Science Advances 10 (12): eadl1710. 22 March 2024

Insulin secretion defect in children and adolescents with obesity: clinical and molecular genetic characterization.
Enders-Seidlitz, H., Raile, K., Gong, M., Galler, A., Kuehnen, P. and Wiegand, S.
Journal of Diabetes Research 2024 : 5558634. 20 March 2024

Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.
Hofman, D.A., Ruiz-Orera, J., Yannuzzi, I., Murugesan, R., Brown, A., Clauser, K.R., Condurat, A.L., van Dinter, J.T., Engels, S.A.G., Goodale, A., van der Lugt, J., Abid, T., Wang, L., Zhou, K.N., Vogelzang, J., Ligon, K.L., Phoenix, T.N., Roth, J.A., Root, D.E, Hubner, N., Golub, T.R., Bandopadhayay, P., van Heesch, S. and Prensner, J.R.
Molecular Cell 84 (2): 261-276. 18 January 2024

Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3).
Susgun, S., Ben-Mahmoud, A., Rüschendorf, F., Ku, B., Hussain, S.I., Schulz, S., Puk, O., Biskup, S., Labonne, J.D.J., Don, D.W., Gupta, V., Choi, T.I., Khan, S., Wasif, N., Lacassie, Y., Layman, L.C., Ugur Iseri, S.A., Kim, C.H. and Kim, H.G.
Human Mutation 2024 : 1-13. 5 January 2024

Endothelial overexpression of TGF-β-induced protein impairs venous thrombus resolution.
Bochenek, M.L., Saar, K., Nazari-Jahantigh, M., Gogiraju, R., Wiedenroth, C.B., Münzel, T., Mayer, E., Fink, L., Schober, A., Hübner, N., Guth, S., Konstantinides, S. and Schäfer, K.
JACC: Basic to Translational Science 9 (1): 100-116. January 2024

2023

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J., Theisen, S., Dartsch, J., Fritsche-Guenther, R., Kirchner, M., Obermayer, B., Bauer, A., Kahlert, A.K., Rothe, M., Beule, D., Heuser, A., Mertins, P., Kirwan, J.A., Berndt, N., MacRae, C.A., Hubner, N. and Klaassen, S.
Cardiovascular Research 119 (18): 2902-2916. December 2023

Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism.
Loos, M., Klampe, B., Schulze, T., Yin, X., Theofilatos, K., Ulmer, B.M., Schulz, C., Behrens, C.S., van Bergen, T.D., Adami, E., Maatz, H., Schweizer, M., Brodesser, S., Skryabin, B.V., Rozhdestvensky, T.S., Bodbin, S., Stathopoulou, K., Christ, T., Denning, C., Hübner, N., Mayr, M., Cuello, F., Eschenhagen, T. and Hansen, A.
Stem Cell Reports 18 (11): 2123-2137. 14 November 2023

Protocol of the Berlin Long-term Observation of Vascular Events (BeLOVE): a prospective cohort study with deep phenotyping and long-term follow up of cardiovascular high-risk patients.
Weber, J.E., Ahmadi, M., Boldt, L.H., Eckardt, K.U., Edelmann, F., Gerhardt, H., Grittner, U., Haubold, K., Hübner, N., Kollmus-Heege, J., Landmesser, U., Leistner, D.M., Mai, K., Müller, D.N., Nolte, C.H., Pieske, B., Piper, S.K., Rattan, S., Rauch, G., Schmidt, S., Schmidt-Ott, K.M., Schönrath, K., Schulz-Menger, J., Schweizerhof, O., Siegerink, B., Spranger, J., Ramachandran, V.S., Witzenrath, M., Endres, M. and Pischon, T.
BMJ Open 13 (10): e076415. 31 October 2023

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.
Budu-Aggrey, A., Kilanowski, A., Sobczyk, M.K., Shringarpure, S.S., Mitchell, R., Reis, K., Reigo, A., Mägi, R., Nelis, M., Tanaka, N., Brumpton, B.M., Thomas, L.F., Sole-Navais, P., Flatley, C., Espuela-Ortiz, A., Herrera-Luis, E., Lominchar, J.V.T., Bork-Jensen, J., Marenholz, I., Arnau-Soler, A., Jeong, A., Fawcett, K.A., Baurecht, H., Rodriguez, E., Alves, A.C., Kumar, A., Sleiman, P.M., Chang, X., Medina-Gomez, C., Hu, C., Xu, C.J., Qi, C., El-Heis, S., Titcombe, P., Antoun, E., Fadista, J., Wang, C.A., Thiering, E., Wu, B., Kress, S., Kothalawala, D.M., Kadalayil, L., Duan, J., Zhang, H., Hadebe, S., Hoffmann, T., Jorgenson, E., Choquet, H., Risch, N., Njølstad, P., Andreassen, O.A., Johansson, S., Almqvist, C., Gong, T., Ullemar, V., Karlsson, R., Magnusson, P.K.E., Szwajda, A., Burchard, E.G., Thyssen, J.P., Hansen, T., Kårhus, L.L., Dantoft, T.M., Jeanrenaud, A.C.S.N., Ghauri, A., Arnold, A., Homuth, G., Lau, S., Nöthen, M.M., Hübner, N., Imboden, M., Visconti, A., Falchi, M., Bataille, V., Hysi, P., Ballardini, N., Boomsma, D.I., Hottenga, J.J., Müller-Nurasyid, M., Ahluwalia, T.S., Stokholm, J., Chawes, B., Schoos, A.M.M., Esplugues, A., Bustamante, M., Raby, B., Arshad, S., German, C., Esko, T., Milani, L.A., Metspalu, A., Terao, C., Abuabara, K., Løset, M., Hveem, K., Jacobsson, B., Pino-Yanes, M., Strachan, D.P., Grarup, N., Linneberg, A., Lee, Y., Probst-Hensch, N., Weidinger, S., Jarvelin, M.R., Melén, E., Hakonarson, H., Irvine, A.D., Jarvis, D., Nijsten, T., Duijts, L., Vonk, J.M., Koppelmann, G.H., Godfrey, K.M., Barton, S.J., Feenstra, B., Pennell, C.E., Sly, P.D., Holt, P.G., Williams, L.K., Bisgaard, H., Bønnelykke, K., Curtin, J., Simpson, A., Murray, C., Schikowski, T., Bunyavanich, S., Weiss, S.T., Holloway, J.W., Min, J.L., Brown, S.J., Standl, M. and Paternoster, L.
Nature Communications 14 (1): 6172. 4 October 2023

Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing.
Cui, L., Yang, B., Xiao, S., Gao, J., Baud, A., Graham, D., McBride, M., Dominiczak, A., Schafer, S., Aumatell, R.L., Mont, C., Teruel, A.F., Hübner, N., Flint, J., Mott, R. and Huang, L.
Genome Biology 24 (1): 215. 29 September 2023

What can Ribo-seq, immunopeptidomics, and proteomics tell us about the non-canonical proteome?
Prensner, J.R., Abelin, J.G., Kok, L.W., Clauser, K.R., Mudge, J.M., Ruiz-Orera, J., Bassani-Sternberg, M., Moritz, R.L., Deutsch, E.W. and van Heesch, S.
Molecular & Cellular Proteomics 22 (9): 100631. September 2023

Spatially resolved multiomics of human cardiac niches.
Kanemaru, K., Cranley, J., Muraro, D., Miranda, A.M.A., Ho, S.Y., Wilbrey-Clark, A., Patrick Pett, J., Polanski, K., Richardson, L., Litvinukova, M., Kumasaka, R., Qin, Y., Jablonska, Z., Semprich, C.I., Mach, L., Dabrowska, M., Richoz, R., Bolt, L., Mamanova, L., Kapuge, R., Barnett, S.N., Perera, S., Talavera-López, C., Mulas, I., Mahbubani, K.T., Tuck, Liz, Wang, Lu, Huang, M.M., Prete, M., Pritchard, S., Dark, J., Saeb-Parsy, K., Patel, M., Clatworthy, M.R., Hübner, N., Chowdhury, R.A., Noseda, M. and Teichmann, S.A.
Nature 619 : 801-810. 27 July 2023

Dynamic interplay between RPL3- and RPL3L-containing ribosomes modulates mitochondrial activity in the mammalian heart.
Milenkovic, I., Santos Vieira, H.G., Lucas, M.C., Ruiz-Orera, J., Patone, G., Kesteven, S., Wu, J., Feneley, M., Espadas, G., Sabidó, E., Hübner, N., van Heesch, S., Völkers, M. and Novoa, E.M.
Nucleic Acids Research 51 (11): 5301-5324. 23 June 2023

Evolution and implications of de novo genes in humans.
Broeils, L.A., Ruiz-Orera, J., Snel, B., Hubner, N. and van Heesch, S.
Nature Ecology & Evolution 7 (6): 804-815. June 2023

Single-cell transcriptomics for the assessment of cardiac disease.
Miranda, A.M.A., Janbandhu, V., Maatz, H., Kanemaru, K., Cranley, J., Teichmann, S.A., Huebner, N., Schneider, M.D., Harvey, R.P. and Noseda, M.
Nature Reviews Cardiology 20 (5): 289-308. May 2023

Targeting the tissue factor coagulation initiation complex prevents antiphospholipid antibody development.
Mueller-Calleja, N., Grunz, K., Nguyen, T.S., Posma, J., Pedrosa, D., Meineck, M., Hollerbach, A., Braun, J., Muth, S., Schild, H., Saar, K., Hübner, N., Krishnaswamy, S., Royce, J., Teyton, L., Lemmermann, N.A., Weinmann-Menke, J., Lackner, K.J. and Ruf, W.
Blood 143 (12): 1167-1180. 21 March 2023

Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames.
Sandmann, C.L., Schulz, J.F., Ruiz-Orera, J., Kirchner, M., Ziehm, M., Adami, E., Marczenke, M., Christ, A., Liebe, N., Greiner, J., Schoenenberger, A., Mücke, M.B., Liang, N., Moritz, R.L., Sun, Z., Deutsch, E.W., Gotthardt, M., Mudge, J.M., Prensner, J.R., Willnow, T.E., Mertins, P., van Heesch, S. and Hubner, N.
Molecular Cell 83 (6): 994-1011.e18. 16 March 2023

LINC01013 is a determinant of fibroblast activation and encodes a novel fibroblast-activating micropeptide.
Quaife, N.M., Chothani, S., Schulz, J.F., Lindberg, E.L., Vanezis, K., Adami, E., O'Fee, K., Greiner, J., Litviňuková, M., van Heesch, S., Whiffin, N., Hubner, N., Schafer, S., Rackham, O., Cook, S.A. and Barton, P.J.R.
Journal of cardiovascular translational research 16 (1): 77-85. February 2023

2022

Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M., Mücke, M.B., Pallien, T., Markó, L., Sholokh, A., Schächterle, C., Aydin, A., Kidd, A., Walter, S., Esmati, Y., McMurray, B.J., Lato, D.F., Sunaga-Franze, D.Y., Dierks, P.H., Flores, B.I.M., Walker-Gray, R., Gong, M., Merticariu, C., Zühlke, K., Russwurm, M., Liu, T., Batolomaeus, T.U.P., Pautz, S., Schelenz, S., Taube, M., Napieczynska, H., Heuser, A., Eichhorst, J., Lehmann, M., Miller, D.C., Diecke, S., Qadri, F., Popova, E., Langanki, R., Movsesian, M.A., Herberg, F.W., Forslund, S.K., Müller, D.N., Borodina, T., Maass, P.G., Bähring, S., Hübner, N., Bader, M. and Klussmann, E.
Circulation 146 (23): 1758-1778. 6 December 2022

Targeting endogenous kidney regeneration using anti-IL11 therapy in acute and chronic models of kidney disease.
Widjaja, A.A., Viswanathan, S., Shekeran, S.G., Adami, E., Lim, W.W., Chothani, S., Tan, J., Goh, J.W.T., Chen, H.M., Lim, S.Y., Boustany-Kari, C.M., Hawkins, J., Petretto, E., Hübner, N., Schafer, S., Coffman, T.M. and Cook, S.A.
Nature Communications 13 (1): 7497. 5 December 2022

AntiSplodge: a neural-network-based RNA-profile deconvolution pipeline designed for spatial transcriptomics.
Lund, J.B., Lindberg, E.L., Maatz, H., Pottbaecker, F., Hübner, N. and Lippert, C.
NAR Genomics and Bioinformatics 4 (4): lqac073. December 2022

pTINCR microprotein promotes epithelial differentiation and suppresses tumor growth through CDC42 SUMOylation and activation.
Boix, O., Martinez, M., Vidal, S., Giménez-Alejandre, M., Palenzuela, L., Lorenzo-Sanz, L., Quevedo, L., Moscoso, O., Ruiz-Orera, J., Ximénez-Embún, P., Ciriaco, N., Nuciforo, P., Stephan-Otto Attolini, C., Albà, M.M., Muñoz, J., Tian, T.V., Varela, I., Vivancos, A., Ramón Y Cajal, S., Muñoz, P., Rivas, C. and Abad, M.
Nature Communications 13 (1): 6840. 11 November 2022

SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Maharana, S., Kretschmer, S., Hunger, S., Yan, X., Kuster, D., Traikov, S., Zillinger, T., Gentzel, M., Elangovan, S., Dasgupta, P., Chappidi, N., Lucas, N., Maser, K.I., Maatz, H., Rapp, A., Marchand, V., Chang, Y.T., Motorin, Y., Hubner, N., Hartmann, G., Hyman, A.A., Alberti, S. and Lee-Kirsch, M.A.
Molecular Cell 82 (19): 3712-3728.e10. 6 October 2022

Integrative analysis of macrophage ribo-Seq and RNA-Seq data define glucocorticoid receptor regulated inflammatory response genes into distinct regulatory classes.
Ansari, S.A., Dantoft, W., Ruiz-Orera, J., Syed, A.P., Blachut, S., van Heesch, S., Hübner, N. and Uhlenhaut, N.H.
Computational and Structural Biotechnology Journal 20 : 5622-5638. 3 October 2022

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin, S.J., Vona, B., Porter, H.M., Izadi, M., Huang, K., Lacassie, Y., Rosenfeld, J.A., Khan, S., Petree, C., Ali, T.A., Muhammad, N., Khan, S.A., Muhammad, N., Liu, P., Haymon, M.L., Rüschendorf, F., Kong, I.K., Schnapp, L., Shur, N., Chorich, L., Layman, L., Haaf, T., Pourkarimi, E., Kim, H.G. and Varshney, G.K.
Human Mutation 43 (10): 1472-1489. October 2022

Aging-regulated TUG1 is dispensable for endothelial cell function.
Gimbel, A.T., Koziarek, S., Theodorou, K., Schulz, J.F., Stanicek, L., Kremer, V., Ali, T., Günther, S., Kumar, S., Jo, H., Hübner, N., Maegdefessel, L., Dimmeler, S., van Heesch, S. and Boon, R.A.
PLoS ONE 17 (9): e0265160. 29 September 2022

Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study.
Konigorski, S., Janke, J., Patone, G., Bergmann, M.M., Lippert, C., Hübner, N., Kaaks, R., Boeing, H. and Pischon, T.
European Journal of Human Genetics 32 (9): 1127-1135. September 2022

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart, D., Lindberg, E.L., Maatz, H., Miranda, A.M.A., Viveiros, A., Shvetsov, N., Gärtner, A., Nadelmann, E.R., Lee, M., Kanemaru, K., Ruiz-Orera, J., Strohmenger, V., DeLaughter, D.M., Patone, G., Zhang, H., Woehler, A., Lippert, C., Kim, Y., Adami, E., Gorham, J.M., Barnett, S.N., Brown, K., Buchan, R.J., Chowdhury, R.A., Constantinou, C., Cranley, J., Felkin, L.E., Fox, H., Ghauri, A., Gummert, J., Kanda, M., Li, R., Mach, L., McDonough, B., Samari, S., Shahriaran, F., Yapp, C., Stanasiuk, C., Theotokis, P.I., Theis, F.J., van den Bogaerdt, A., Wakimoto, H., Ware, J.S., Worth, C.L., Barton, P.J.R., Lee, Y.A., Teichmann, S.A., Milting, H., Noseda, M., Oudit, G.Y., Heinig, M., Seidman, J.G., Hubner, N. and Seidman, C.E.
Science 377 (6606): eabo1984. 5 August 2022

A high-resolution map of human RNA translation.
Chothani, S.P., Adami, E., Widjaja, A.A., Langley, S.R., Viswanathan, S., Pua, C.J., Zhihao, N.T., Harmston, N., D'Agostino, G., Whiffin, N., Mao, W., Ouyang, J.F., Lim, W.W., Lim, S., Lee, C.Q.E., Grubman, A., Chen, J., Kovalik, J.P., Tryggvason, K., Polo, J.M., Ho, L., Cook, S.A., Rackham, O.J.L. and Schafer, S.
Molecular Cell 82 (15): 2885-2899.e8. 4 August 2022

In prostate cancer cells cytokines are early responders to gravitational changes occurring in parabolic flights.
Schulz, H., Dietrichs, D., Wehland, M., Corydon, T.J., Hemmersbach, R., Liemersdorf, C., Melnik, D., Hübner, N., Saar, K., Infanger, M. and Grimm, D.
International Journal of Molecular Sciences 23 (14): 7876. 17 July 2022

Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model.
Axelsson Raja, A., Wakimoto, H., DeLaughter, D.M., Reichart, D., Gorham, J., Conner, D.A., Lun, M., Probst, C.K., Sakai, N., Knipe, R.S., Montesi, S.B., Shea, B., Adam, L.P., Leinwand, L.A., Wan, W., Choi, E.S., Lindberg, E.L., Patone, G., Noseda, M., Hübner, N., Seidman, C.E., Tager, A.M., Seidman, J.G. and Ho, C.Y.
Proceedings of the National Academy of Sciences of the United States of America 119 (28): e2204174119. 12 July 2022

Standardized annotation of translated open reading frames.
Mudge, J.M., Ruiz-Orera, J., Prensner, J.R., Brunet, M.A., Calvet, F., Jungreis, I., Gonzalez, Jo.M., Magrane, M., Martinez, T.F., Schulz, J.F., Yang, Y.T., Albà, M.M., Aspden, J.L., Baranov, P.V., Bazzini, A.A., Bruford, E., Martin, M.J., Calviello, L., Carvunis, A.R., Chen, J., Couso, J.P., Deutsch, E.W., Flicek, P., Frankish, A., Gerstein, M., Hubner, N., Ingolia, N.T., Kellis, M., Menschaert, G., Moritz, R.L., Ohler, U., Roucou, X., Saghatelian, A., Weissman, J.S. and van Heesch, S.
Nature Biotechnology 40 (7): 994–999. July 2022

A neutralizing IL-11 antibody improves renal function and increases lifespan in a mouse model of alport syndrome.
Widjaja, A.A., Shekeran, S., Adami, E., Goh, J., Tan, J., Viswanathan, S., Lim, S.Y., Tan, P.H., Hübner, N., Coffman, T. and Cook, S.
Journal of the American Society of Nephrology 33 (4): 718-730. April 2022

Cap analysis of gene expression reveals alternative promoter usage in a rat model of hypertension.
Dahale, S., Ruiz-Orera, J., Silhavy, J., Hübner, N., van Heesch, S., Pravenec, M. and Atanur, S.S.
Life Science Alliance 5 (4): e202101234. April 2022

Expression of cardiovascular-related microRNAs is altered in L-arginine:glycine amidinotransferase deficient mice.
Jensen, M., Müller, C., Huebner, N., Patone, G., Saar, K., Choe, C.U., Schwedhelm, E. and Zeller, T.
Scientific Reports 12 (1): 5108. 24 March 2022

IL11 activates pancreatic stellate cells and causes pancreatic inflammation, fibrosis and atrophy in a mouse model of pancreatitis.
Ng, B., Viswanathan, S., Widjaja, A.A., Lim, W.W., Shekeran, S.G., Goh, J.W.T., Tan, J., Kuthubudeen, F., Lim, S.Y., Xie, C., Schafer, S., Adami, E. and Cook, S.A.
International Journal of Molecular Sciences 23 (7): 3549. 24 March 2022

Naïve-like pluripotency to pave the way for saving the northern white rhinoceros from extinction.
Zywitza, V., Rusha, E., Shaposhnikov, D., Ruiz-Orera, J., Telugu, N., Rishko, V., Hayashi, M., Michel, G., Wittler, L., Stejskal, J., Holtze, S., Göritz, F., Hermes, R., Wang, J., Izsvák, Z., Colleoni, S., Lazzari, G., Galli, C., Hildebrandt, T.B., Hayashi, K., Diecke, S. and Drukker, M.
Scientific Reports 12 (1): 3100. 8 March 2022

Protective immune trajectories in early viral containment of non-pneumonic SARS-CoV-2 infection.
Pekayvaz, K., Leunig, A., Kaiser, R., Joppich, M., Brambs, S., Janjic, A., Popp, O., Nixdorf, D., Fumagalli, V., Schmidt, N., Polewka, V., Anjum, A., Knottenberg, V., Eivers, L., Wange, L.E., Gold, C., Kirchner, M., Muenchhoff, M., Hellmuth, J.C., Scherer, C., Rubio-Acero, R., Eser, T., Deák, F., Puchinger, K., Kuhl, N., Linder, A., Saar, K., Tomas, L., Schulz, C., Wieser, A., Enard, W., Kroidl, I., Geldmacher, C., von Bergwelt-Baildon, M., Keppler, O.T., Munschauer, M., Iannacone, M., Zimmer, R., Mertins, P., Hubner, N., Hoelscher, M., Massberg, S., Stark, K. and Nicolai, L.
Nature Communications 13 (1): 1018. 23 February 2022

2021

TUNAR lncRNA encodes a microprotein that regulates neural differentiation and neurite formation by modulating calcium dynamics.
Senís, E., Esgleas, M., Najas, S., Jiménez-Sábado, V., Bertani, C., Giménez-Alejandre, M., Escriche, A., Ruiz-Orera, J., Hergueta-Redondo, M., Jiménez, M., Giralt, A., Nuciforo, P., Albà, M.M., Peinado, H., Del Toro, D., Hove-Madsen, L., Götz, M. and Abad, M.
Frontiers in Cell and Developmental Biology 9 : 747667. 31 December 2021

Extracellular matrix in heart Failure: role of ADAMTS5 in proteoglycan remodeling.
Barallobre-Barreiro, J., Radovits, T., Fava, M., Mayr, U., Lin, W.Y., Ermolaeva, E., Martínez-López, D., Lindberg, E.L., Duregotti, E., Daróczi, L., Hasman, M., Schmidt, L.E., Singh, B., Lu, R., Baig, F., Siedlar, A.M., Cuello, F., Catibog, N., Theofilatos, K., Shah, A.M., Crespo-Leiro, M.G., Doménech, N., Hübner, N., Merkely, B. and Mayr, M.
Circulation 144 (25): 2021-2034. 21 December 2021

Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.
Schneider-Lunitz, V., Ruiz-Orera, J., Hubner, N. and van Heesch, S.
PLoS Computational Biology 17 (12): e1009658. 8 December 2021

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Grosche, S., Marenholz, I., Esparza-Gordillo, J., Arnau-Soler, A., Pairo-Castineira, E., Rüschendorf, F., Ahluwalia, T.S., Almqvist, C., Arnold, A., Baurecht, H., Bisgaard, H., Bønnelykke, K., Brown, S.J., Bustamante, M., Curtin, J.A., Custovic, A., Dharmage, S.C., Esplugues, A., Falchi, M., Fernandez-Orth, D., Ferreira, M.A.R., Franke, A., Gerdes, S., Gieger, C., Hakonarson, H., Holt, P.G., Homuth, G., Hubner, N., Hysi, P.G., Jarvelin, M.R., Karlsson, R., Koppelman, G.H., Lau, S., Lutz, M., Magnusson, P.K.E., Marks, G.B., Müller-Nurasyid, M., Nöthen, M.M., Paternoster, L., Pennell, C.E., Peters, A., Rawlik, K., Robertson, C.F., Rodriguez, E., Sebert, S., Simpson, A., Sleiman, P.M.A., Standl, M., Stölzl, D., Strauch, K., Szwajda, A., Tenesa, A., Thompson, P.J., Ullemar, V., Visconti, A., Vonk, J.M., Wang, C.A., Weidinger, S., Wielscher, M., Sargent, C.L., Xu, C.J. and Lee, Y.A.
Nature Communications 12 (1): 6618. 16 November 2021

Vascular tissue specific miRNA profiles reveal novel correlations with risk factors in coronary artery disease.
Neiburga, K., Vilne, B., Bauer, S., Bongiovanni, D., Ziegler, T., Lachmann, M., Wengert, S., Hawe, J., Güldener, U., Westerlund, A., Li, L., Pang, S., Yang, C., Saar, K., Huebner, N., Maegdefessel, L., Lange, R., Krane, M., Schunkert, H. and von Scheidt, M.
Biomolecules 11 (11): 1683. 12 November 2021

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin, A., Gärtner, A., Cyganek, L., Tiburcy, M., Tuleta, I., Wellers, L., Folsche, L., Hobbach, A.J., von Frieling-Salewsky, M., Unger, A., Hucke, A., Koser, F., Kassner, A., Sielemann, K., Streckfuß-Bömeke, K., Hasenfuss, G., Goedel, A., Laugwitz, K.L., Moretti, A., Gummert, J.F., Dos Remedios, C.G., Reinecke, H., Knöll, R., van Heesch, S., Hubner, N., Zimmermann, W.H., Milting, H. and Linke, W.A.
Science Translational Medicine 13 (618): eabd3079. 3 November 2021

Self-sustaining interleukin-8 loops drive a prothrombotic neutrophil phenotype in severe COVID-19.
Kaiser, R., Leunig, A., Pekayvaz, K., Popp, O., Joppich, M., Polewka, V., Escaig, R., Anjum, A., Hoffknecht, M.L., Gold, C., Brambs, S., Engel, A., Stockhausen, S., Knottenberg, V., Titova, A., Haji, M., Scherer, C., Muenchhoff, M., Hellmuth, J.C., Saar, K., Schubert, B., Hilgendorff, A., Schulz, C., Kääb, S., Zimmer, R., Hübner, N., Massberg, S., Mertins, P., Nicolai, L. and Stark, K.
JCI Insight 6 (18): e150862. 22 September 2021

Identification of disease-relevant modulators of the SHH pathway in the developing brain.
Mecklenburg, N., Kowalczyk, I., Witte, F., Görne, J., Laier, A., Mamo, T.M., Gonschior, H., Lehmann, M., Richter, M., Sporbert, A., Purfürst, B., Hübner, N. and Hammes, A.
Development 148 (17): dev199307. September 2021

A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
Witte, F., Ruiz-Orera, J., Ciolli Mattioli, C., Blachut, S., Adami, E., Schulz, J.F., Schneider-Lunitz, V., Hummel, O., Patone, G., Mücke, M.B., Šilhavý, Jan, Heinig, M., Bottolo, L., Sanchis, D., Vingron, M., Chekulaeva, M., Pravenec, M., Hubner, N. and van Heesch, S.
Genome Biology 22 (1): 191. 28 June 2021

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello, F., Knaust, A.E., Saleem, U., Loos, M., Raabe, J., Mosqueira, D., Laufer, S., Schweizer, M., Kraak, P., Flenner, F., Ulmer, B.M, Braren, I., Yin, X., Theofilatos, K., Ruiz-Orera, J., Patone, G., Klampe, B., Schulze, T., Piasecki, A., Pinto, Y., Vink, A., Hübner, N., Harding, S., Mayr, M., Denning, C., Eschenhagen, T. and Hansen, A.
EMBO Molecular Medicine 13 (6): e13074. 7 June 2021

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona, B., Mazaheri, N., Lin, S.J., Dunbar, L.A., Maroofian, R., Azaiez, H., Booth, K.T., Vitry, S., Rad, A., Rüschendorf, F., Varshney, P., Fowler, B., Beetz, C., Alagramam, K.N., Murphy, D., Shariati, G., Sedaghat, A., Houlden, H., Petree, C., VijayKumar, S., Smith, R.J.H., Haaf, T., El-Amraoui, A., Bowl, M.R., Varshney, G.K. and Galehdari, H.
Human Genetics 140 (6): 915-931. June 2021

Impact of uORFs in mediating regulation of translation in stress conditions.
Moro, S.G., Hermans, C., Ruiz-Orera, J. and Albà, M.M.
BMC Molecular and Cell Biology 22 (1): 29. 16 May 2021

Isolation of nuclei from mammalian cells and tissues for single-nucleus molecular profiling.
Nadelmann, E.R., Gorham, J.M., Reichart, D., Delaughter, D.M., Wakimoto, H., Lindberg, E.L., Litviňuková, M., Maatz, H., Curran, J.J., Ischiu Gutierrez, D., Hübner, N., Seidman, C.E. and Seidman, J G
Current Protocols 1 (5): e132. May 2021

Dual-function RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.
Schneider-Lunitz, V., Ruiz-Orera, J., Hubner, N. and van Heesch, S.
bioRxiv : 2021.04.13.439465. 13 April 2021

Apple peel and flesh contain pro-neurogenic compounds.
Ichwan, M., Walker, T.L., Nicola, Z., Ludwig-Müller, J., Böttcher, C., Overall, R.W., Adusumilli, V.S., Bulut, M., Sykes, A.M., Hübner, N., Ramirez-Rodriguez, G., Ortiz-López, L., Lugo-Hernández, E.A. and Kempermann, G.
Stem Cell Reports 16 (3): 548-565. 9 March 2021

Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
Muus, C., Luecken, M.D., Eraslan, G., Sikkema, L., Waghray, A., Heimberg, G., Kobayashi, Y., Vaishnav, E.D., Subramanian, A., Smillie, C., Jagadeesh, K.A., Duong, E.T., Fiskin, E., Triglia, E.T., Ansari, M., Cai, P., Lin, B., Buchanan, J., Chen, S., Shu, J., Haber, A.L., Chung, H., Montoro, D.T., Adams, T., Aliee, H., Allon, S.J., Andrusivova, Z., Angelidis, I., Ashenberg, O., Bassler, K., Bécavin, C., Benhar, I., Bergenstråhle, J., Bergenstråhle, L., Bolt, L., Braun, E., Bui, L.T., Callori, S., Chaffin, M., Chichelnitskiy, E., Chiou, J., Conlon, T.M., Cuoco, M.S., Cuomo, A.S.E., Deprez, M., Duclos, G., Fine, D., Fischer, D.S., Ghazanfar, S., Gillich, A., Giotti, B., Gould, J., Guo, M., Gutierrez, A.J., Habermann, A.C., Harvey, T., He, P., Hou, X., Hu, L., Hu, Y., Jaiswal, A., Ji, L., Jiang, P., Kapellos, T.S., Kuo, C.S., Larsson, L., Leney-Greene, M.A., Lim, K., Litviňuková, M., Ludwig, L.S., Lukassen, S., Luo, W., Maatz, H., Madissoon, E., Mamanova, L., Manakongtreecheep, K., Leroy, S., Mayr, C.H., Mbano, I.M., McAdams, A.M., Nabhan, A.N., Nyquist, S.K., Penland, L., Poirion, O.B., Poli, S., Qi, C.C., Queen, R., Reichart, D., Rosas, I., Schupp, J.C., Shea, C.V., Shi, X., Sinha, R., Sit, R.V., Slowikowski, K., Slyper, M., Smith, N.P., Sountoulidis, A., Strunz, M., Sullivan, T.B., Sun, D., Talavera-López, C., Tan, P., Tantivit, J., Travaglini, K.J., Tucker, N.R., Vernon, K.A., Wadsworth, M.H., Waldman, J., Wang, X., Xu, K., Yan, W., Zhao, W. and Ziegler, C.G.K.
Nature Medicine 27 (3): 546-559. 2 March 2021

Myocarditis and inflammatory cardiomyopathy: current evidence and future directions.
Tschöpe, C., Ammirati, E., Bozkurt, B., Caforio, A.L.P., Cooper, L.T., Felix, S.B., Hare, J.M., Heidecker, B., Heymans, S., Hübner, N., Kelle, S., Klingel, K., Maatz, H., Parwani, A.S., Spillmann, F., Starling, R.C., Tsutsui, H., Seferovic, P. and Van Linthout, S.
Nature Reviews Cardiology 18 (3): 169-193. March 2021

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Jiang, H., Hooper, C., Kelly, M., Steeples, V., Simon, J.N., Beglov, J., Azad, A.J., Leinhos, L., Bennett, P., Ehler, E., Kalisch-Smith, J.I., Sparrow, D.B., Fischer, R., Heilig, R., Isackson, H., Ehsan, M., Patone, G., Huebner, N., Davies, B., Watkins, H. and Gehmlich, K.
Basic Research in Cardiology 116 (1): 14. 26 February 2021

Cerebral angiogenesis ameliorates pathological disorders in Nemo-deficient mice with small-vessel disease.
Jiang, Y., Müller, K., Khan, M.A., Assmann, J.C., Lampe, J., Kilau, K., Richter, M., Kleint, M., Ridder, D.A., Hübner, N., Schmidt-Supprian, M., Wenzel, J. and Schwaninger, M.
Journal of Cerebral Blood Flow and Metabolism 41 (2): 219-235. 1 February 2021

Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
Norin, U., Rintisch, C., Meng, L., Forster, F., Ekman, D., Tuncel, J., Klocke, K., Bäcklund, J., Yang, M., Bonner, M.Y, Lahore, G.F., James, J., Shchetynsky, K., Bergquist, M., Gjertsson, I., Hubner, N., Bäckdahl, L. and Holmdahl, R.
Nature Communications 12 (1): 610. 27 January 2021

Uncovering de novo gene birth in yeast using deep transcriptomics.
Blevins, W.R., Ruiz-Orera, J., Messeguer, X., Blasco-Moreno, B., Villanueva-Cañas, J.L., Espinar, L., Díez, J., Carey, L.B. and Albà, M.M.
Nature Communications 12 (1): 604. 27 January 2021

Transcriptional signatures regulated by TRPC1/C4-mediated Background Ca(2+) entry after pressure-overload induced cardiac remodelling.
Camacho Londoño, J.E., Kuryshev, V., Zorn, M., Saar, K., Tian, Q., Hübner, N., Nawroth, P., Dietrich, A., Birnbaumer, L., Lipp, P., Dieterich, C. and Freichel, M.
Progress in Biophysics and Molecular Biology 159 : 86-104. January 2021

Gene expression analysis and next-generation sequencing.
Lindberg, E.L. and Hübner, N.
In: Encyclopedia of Molecular Pharmacology : Third Edition. Springer, Cham, 684-688. ISBN 978-3-030-57400-0 2021

2020

Cells of the adult human heart.
Litviňuková, M., Talavera-López, C., Maatz, H., Reichart, D., Worth, C.L., Lindberg, E.L., Kanda, M., Polanski, K., Heinig, M., Lee, M.l, Nadelmann, E.R., Roberts, K., Tuck, L., Fasouli, E.S., DeLaughter, D.M., McDonough, B., Wakimoto, H., Gorham, J.M., Samari, S., Mahbubani, K.T., Saeb-Parsy, K., Patone, G., Boyle, J.J., Zhang, H., Zhang, H., Viveiros, A., Oudit, G.Y., Bayraktar, O., Seidman, J.G., Seidman, C.E., Noseda, M., Hubner, N. and Teichmann, S.A.
Nature 588 (7838): 466-472. 17 December 2020

LifeTime and improving European healthcare through cell-based interceptive medicine.
Rajewsky, N., Almouzni, G., Gorski, S.A., Aerts, S., Amit, I., Bertero, M.G., Bock, C., Bredenoord, A.L., Cavalli, G., Chiocca, S., Clevers, H., De Strooper, B., Eggert, A., Ellenberg, J., Fernández, X.M., Figlerowicz, M., Gasser, S.M., Hubner, N., Kjems, J., Knoblich, J.A., Krabbe, G., Lichter, P., Linnarsson, S., Marine, J.C., Marioni, J., Marti-Renom, M.A., Netea, M.G., Nickel, D., Nollmann, M., Novak, H.R., Parkinson, H., Piccolo, S., Pinheiro, I., Pombo, A., Popp, C., Reik, W., Roman-Roman, S., Rosenstiel, P., Schultze, J.L., Stegle, O., Tanay, A., Testa, G., Thanos, D., Theis, F.J., Torres-Padilla, M.E., Valencia, A., Vallot, C., van Oudenaarden, A., Vidal, M. and Voet, T.
Nature 587 (7834): 377-386. 19 November 2020

Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families.
Doll, J., Vona, B., Schnapp, L., Rüschendorf, F., Khan, I., Khan, S., Muhammad, N., Alam Khan, S., Nawaz, H., Khan, A., Ahmad, N., Kolb, S.M., Kühlewein, L., Labonne, J.D.J., Layman, L.C., Hofrichter, M.A.H., Röder, T., Dittrich, M., Müller, T., Graves, T.D., Kong, I.K., Nanda, I., Kim, H.G. and Haaf, T.
Genes 11 (11): 1329. 11 November 2020

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, X., Feng, Y., Rahman, S.A., Wu, S., Li, G., Rüschendorf, F., Zhao, L., Cui, H., Liang, J., Fang, L., Hu, H., Froehler, S., Yu, Y., Patone, G., Hummel, O., Chen, Q., Raile, K., Luft, F.C., Bähring, S., Hussain, K., Chen, W., Zhang, J. and Gong, M.
Journal of Genetics and Genomics 47 (10): 618-626. 20 October 2020

A human ESC-based screen identifies a role for the translated lncRNA LINC00261 in pancreatic endocrine differentiation.
Gaertner, B., van Heesch, S., Schneider-Lunitz, V., Schulz, J.F., Witte, F., Blachut, S., Nguyen, S., Wong, R., Matta, I., Hübner, N. and Sander, M.
eLife 9 : e58659. 3 August 2020

Phosphodiesterase 3A and arterial hypertension.
Ercu, M., Markó, L., Schächterle, C., Tsvetkov, D., Cui, Y., Maghsodi, S., Bartolomaeus, T.U.P., Maass, P.G., Zühlke, K., Gregersen, N., Hübner, N., Hodge, R., Mühl, A., Pohl, B., Molé-Illas, R., Geelhaar, A., Walter, S., Napieczynska, H., Schelenz, S., Taube, M., Heuser, A., Anistan, Y.M., Qadri, F., Todiras, M., Plehm, R., Popova, E., Langanki, R., Eichhorst, J., Lehmann, M., Wiesner, B., Russwurm, M., Forslund, S.K., Kamer, I., Müller, D.N., Gollasch, M., Aydin, A., Bähring, S., Bader, M., Luft, F.C. and Klussmann, E.
Circulation 142 (2): 133-149. 14 July 2020

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira, M.A.R., Vonk, J.M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J.D., Helmer, Q., Tillander, A., Ullemar, Vi., Lu, Y., Grosche, S., Rüschendorf, F., Granell, R., Brumpton, B.M., Fritsche, L.G., Bhatta, L., Gabrielsen, M.E., Nielsen, J.B., Zhou, W., Hveem, K., Langhammer, A., Holmen, O.L., Løset, M., Abecasis, G.R., Willer, C.J., Emami, N.C., Cavazos, T.B., Witte, J.S., Szwajda, A., Hinds, D.A., Hübner, N., Weidinger, S., Magnusson, P.K., Jorgenson, E., Karlsson, R., Paternoster, L., Boomsma, D.I., Almqvist, C., Lee, Y.A. and Koppelman, G.H.
PLoS Genetics 16 (6): e1008725. 30 June 2020

Evolution of new proteins from translated sORFs in long non-coding RNAs.
Ruiz-Orera, J., Villanueva-Cañas, J.L. and Albà, M.M.
Experimental Cell Research 391 (1): 111940. 1 June 2020

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes.
Sungnak, W., Huang, N., Bécavin, C., Berg, M., Queen, R., Litvinukova, M., Talavera-López, C., Maatz, H., Reichart, D., Sampaziotis, F., Worlock, K.B., Yoshida, M. and Barnes, J.L.
Nature Medicine 26 (5): 681-687. May 2020

Impulsivity is a heritable trait in rodents and associated with a novel quantitative trait locus on chromosome 1.
Jupp, B., Pitzoi, S., Petretto, E., Mar, A.C., Oliver, Y.P., Jordan, E.R., Taylor, S., Atanur, S.S., Srivastava, P.K., Saar, K., Hubner, N., Sommer, W.H., Staehlin, O., Spanagel, R., Robinson, E.S., Schumann, G., Moreno, M., Everitt, B.J., Robbins, T.W., Aitman, T.J. and Dalley, J.W.
Scientific Reports 10 (1): 6684. 21 April 2020

Integrated analyses of single-cell atlases reveal age, gender, and smoking status associations with cell type-specific expression of mediators of SARS-CoV-2 viral entry and highlights inflammatory programs in putative target cells.
Muus, C., Luecken, M.D., Eraslan, G., Waghray, A., Heimberg, G., Sikkema, L., Kobayashi, Y., Vaishnav, E.D., Subramanian, A., Smilie, C., Jagadeesh, K., Thu Duong, E., Fiskin, E., Torlai Triglia, E., Ansari, M., Cai, P., Lin, B., Buchanan, J., Chen, S., Shu, J., Haber, A.L., Chung, H., Montoro, D.T., Adams, T., Aliee, H., Allon, S.J., Andrusivova, A.Z., Angelidis, I., Ashenberg, O., Bassler, K., Bécavin, C., Benhar, I., Bergenstråhle, J., Bergenstråhle, L., Bolt, L., Braun, E., Bui, L.T., Chaffin, M., Chichelnitskiy, E., Chiou, J., Conlon, T.M., Cuoco, M.S., Deprez, M., Fischer, D.S., Gillich, A., Gould, J., Guo, M., Gutierrez, A.J., Habermann, A.C., Harvey, T., He, P., Hou, X., Hu, L., Jaiswal, A., Jiang, P., Kapellos, T., Kuo, C.S., Larsson, L., Leney-Greene, M.A., Lim, K., Litviňuková, M., Lu, J., Ludwig, L.S., Luo, W., Maatz, H., Madissoon, E., Mamanova, L., Manakongtreecheep, K., Marquette, C.H., Mbano, I., McAdams, A.M., Metzger, R.J., Nabhan, A.N., Nyquist, S.K., Penland, L., Poirion, O.B., Poli, S., Qi, C.C., Queen, R., Reichart, D., Rosas, I., Schupp, J., Sinha, R., Sit, R.V., Slowikowski, K., Slyper, M., Smith, N., Sountoulidis, A., Strunz, M., Sun, D., Talavera-López, C., Tan, P., Tantivit, J., Travaglini, K.J., Tucker, N.R., Vernon, K., Wadsworth, M.H., Waldman, J., Wang, X., Yan, W., Zhao, W. and Ziegler, C.G.K.
bioRxiv : 2020.04.19.049254. 21 April 2020

Ribosome profiling at isoform level reveals evolutionary conserved impacts of differential splicing on the proteome.
Reixachs-Solé, M., Ruiz-Orera, J., Albà, M.M. and Eyras, E.
Nature Communications 11 (1): 1768. 14 April 2020

Cells and gene expression programs in the adult human heart.
Litviňuková, M., Talavera-López, C., Maatz, H., Reichart, D., Worth, C.L., Lindberg, E.L., Kanda, M., Polanski, K., Fasouli, E.S., Samari, S., Roberts, K., Tuck, L., Heinig, M., DeLaughter, D.M., McDonough, B., Wakimoto, H., Gorham, J.M., Nadelmann, E.R., Mahbubani, K.T., Saeb-Parsy, K., Patone, G., Boyle, J.J., Zhang, H., Zhang, H., Viveiros, A., Oudit, G.Y., Bayraktar, O., Seidman, J.G., Seidman, C., Noseda, M., Hübner, N. and Teichmann, S.A.
bioRxiv : 2020.04.03.024075. 10 April 2020

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.
Grunwald, S.A., Popp, O., Haafke, S., Jedraszczak, N., Grieben, U., Saar, K., Patone, G., Kress, W., Steinhagen-Thiessen, E., Dittmar, G. and Spuler, S.
Scientific Reports 10 : 2158. 7 February 2020

Impaired endothelium-mediated cerebrovascular reactivity promotes anxiety and respiration disorders in mice.
Wenzel, J., Hansen, C.E., Bettoni, C., Vogt, M.A., Lembrich, B., Natsagdorj, R., Huber, G., Brands, J., Schmidt, K., Assmann, J.C., Stölting, I., Saar, K., Sedlacik, J., Fiehler, J., Ludewig, P., Wegmann, M., Feller, N., Richter, M., Müller-Fielitz, H., Walther, T., König, G.M., Kostenis, E., Raasch, W., Hübner, N., Gass, P., Offermanns, S., de Wit, C., Wagner, C.A. and Schwaninger, M.
Proceedings of the National Academy of Sciences of the United States of America 117 (3): 1753-1761. 21 January 2020

Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients.
Doll, J., Kolb, S., Schnapp, L., Rad, A., Rüschendorf, F., Khan, I., Adli, A., Hasanzadeh, A., Liedtke, D., Knaup, S., Hofrichter, M.A., Müller, T., Dittrich, M., Kong, I.K., Kim, H.G., Haaf, T. and Vona, B.
International Journal of Molecular Sciences 21 (1): 311. 2 January 2020

Telmisartan prevents development of obesity and normalizes hypothalamic lipid droplets.
Rawish, E., Nickel, L., Schuster, F., Stoelting, I., Frydrychowicz, A., Saar, K., Hübner, N., Othman, A., Kuerschner, L. and Raasch, W.
Journal of Endocrinology 244 (1): 95-110. January 2020

2019

deltaTE: detection of translationally regulated genes by integrative analysis of Ribo-seq and RNA-seq data.
Chothani, S., Adami, E., Ouyang, J.F., Viswanathan, S., Hubner, N., Cook, S.A., Schafer, S. and Rackham, O.J.L.
Current Protocols in Molecular Biology 129 (1): e108. December 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim, H.G., Rosenfeld, J.A., Scott, D.A., Bénédicte, G., Labonne, J.D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., des Portes, V., Bruel, A.L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F., Hummel, O., Islam, Z., Kolatkar, P.R., Layman, L.C., Ryu, D., Kong, I.K., Madan-Khetarpal, S. and Kim, C.H.
Molecular Autism 10 : 35. 22 October 2019

Widespread translational control of fibrosis in the human heart by RNA-binding proteins.
Chothani, S., Schäfer, S., Adami, E., Viswanathan, S., Widjaja, A.A., Langley, S.R., Tan, J., Wang, M., Quaife, N.M., Pua, C.J., D'Agostino, G., Shekeran, S.G., George, B.L., Lim, S., Cao, E.Y., van Heesch, S., Witte, F., Felkin, L.E., Christodoulou, E.G., Dong, J., Blachut, S., Patone, G., Barton, P.J.R., Hubner, N., Cook, S.A. and Rackham, O.J.L.
Circulation 140 (11): 937-951. 10 September 2019

WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen, H., Moreno-Moral, A., Pesce, F., Devapragash, N., Mancini, M., Heng, E.L., Rotival, M., Srivastava, P.K., Harmston, N., Shkura, K., Rackham, O.J.L., Yu, W.P., Sun, X.M., Tee, N.G.Z., Tan, E.L.S., Barton, P.J.R., Felkin, L.E., Lara-Pezzi, E., Angelini, G., Beltrami, C., Pravenec, M., Schafer, A., Bottolo, L., Hubner, N., Emanueli, C., Cook, S.A. and Petretto, E.
Nature Communications 10 (1): 3616. 9 August 2019

Disease overarching mechanisms that explain and predict outcome of patients with high cardiovascular risk: rationale and design of the Berlin Long-term Observation of vascular events (BeLOVE) study.
Siegerink, B., Weber, J., Ahmadi, M., Eckardt, K.U., Edelmann, F., Endres, M., Gerhardt, H., Haubold, K., Hübner, N., Landmesser, U., Leistner, D., Mai, K., Müller, D.N., Pieske, B., Rauch, G., Schmidt, S., Schmidt-Ott, K., Schulz-Menger, J., Spranger, J. and Pischon, T.
medRxiv : 19001024. 15 July 2019

Mice with a Brd4 mutation represent a new model of nephrocalcinosis.
Gorvin, C.M., Loh, N.Y., Stechman, M.J., Falcone, S., Hannan, F.M., Ahmad, B.N., Piret, S.E., Reed, A.A.C., Jeyabalan, J., Leo, P., Marshall, M., Sethi, S., Bass, P., Roberts, I., Sanderson, J., Wells, S., Hough, T.A., Bentley, L., Christie, P.T., Simon, M.M., Mallon, A.M., Schulz, H., Cox, R.D., Brown, M.A., Huebner, N., Brown, S.D. and Thakker, R.V.
Journal of Bone and Mineral Research 34 (7): 1324-1335. July 2019

The translational landscape of the human heart.
van Heesch, S., Witte, F., Schneider-Lunitz, V., Schulz, J.F., Adami, E., Faber, A., Kirchner, M., Maatz, H., Blachut, S., Sandmann, C.L., Kanda, M., Worth, C.L., Schafer, S., Calviello, L., Merriott, R., Patone, G., Hummel, O., Wyler, E., Obermayer, B., Mücke, M., Lindberg, E.L., Trnka, F., Memczak, S., Schilling, M., Felkin, L.E., Barton, P.J.R., Quaife, N.M., Vanezis, K., Diecke, S., Mukai, M., Mah, N., Oh, S.J., Kurtz, A., Schramm, C., Schwinge, D., Sebode, M., Harakalova, M., Asselbergs, F.W., Vink, A., de Weger, R.A., Viswanathan, S., Widjaja, A.A., Gärtner-Rommel, A., Milting, H., Dos Remedios, C., Knosalla, C., Mertins, P., Landthaler, M., Vingron, M., Linke, W.A., Seidman, J.G., Seidman, C.E., Rajewsky, N., Ohler, U., Cook, S.A. and Hubner, N.
Cell 178 (1): 242-260. 27 June 2019

Linkage evidence for a two-locus inheritance of LQT-associated seizures in a multigenerational LQT family with a novel KCNQ1 loss-of-function mutation.
Prüss, H., Gessner, G., Heinemann, S.H., Rüschendorf, F., Ruppert, A.K., Schulz, H., Sander, T. and Rimpau, W.
Frontiers in Neurology 10 : 648. June 2019

SarcTrack: an adaptable software tool for efficient large-scale analysis of sarcomere function in hiPSC-cardiomyocytes.
Toepfer, C.N., Sharma, A., Cicconet, M., Garfinkel, A.C., Mücke, M., Neyazi, M., Willcox, J.A.L., Agarwal, R., Schmid, M., Rao, J., Ewoldt, J., Pourquié, O., Chopra, A., Chen, C.S., Seidman, J.G. and Seidman, C.E.
Circulation Research 124 (8): 1172-1183. 12 April 2019

Autocrine LTA signaling drives NF-κB and JAK-STAT activity and myeloid gene expression in Hodgkin lymphoma.
von Hoff, L., Kärgel, E., Franke, V., McShane, E., Schulz-Beiss, K.W., Patone, G., Schleussner, N., Kolesnichenko, M., Hübner, N., Daumke, O., Selbach, M., Akalin, A., Mathas, S. and Scheidereit, C.
Blood 133 (13): 1489-1494. 28 March 2019

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice.
Gorvin, C.M., Ahmad, B.N., Stechman, M.J., Loh, N.Y., Hough, T.A., Leo, P., Marshall, M., Sethi, S., Bentley, L., Piret, S.E., Reed, A., Jeyabalan, J., Christie, P.T., Wells, S., Simon, M.M., Mallon, A.M., Schulz, H., Huebner, N., Brown, M.A., Cox, R.D., Brown, S.D. and Thakker, R.V.
Journal of Bone and Mineral Research 34 (3): 497-507. March 2019

The Tug1 locus is essential for male fertility.
Lewandowski, J.P., Dumbović, G., Watson, A.R., Hwang, T., Jacobs-Palmer, E., Chang, N., Much, C., Turner, K., Kirby, C., Schulz, J.F., Müller, C.L., Rubinstein, N.D., Groff, A.F., Liapis, S.C., Gerhardinger, C., Hubner, N., van Heesch, S., Hoekstra, H.E., Sauvageau, M. and Rinn, J.L.
bioRxiv : 562066. 28 February 2019

Eleven loci with new reproducible genetic associations with allergic disease risk.
Ferreira, M.A., Vonk, J.M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J.D., Helmer, Q., Tillander, A., Ullemar, V., Lu, Y., Rüschendorf, F., Hinds, D.A., Hübner, N., Weidinger, S., Magnusson, P.K., Jorgenson, E., Lee, Y.A., Boomsma, D.I., Karlsson, R., Almqvist, C., Koppelman, G.H. and Paternoster, L.
Journal of Allergy and Clinical Immunology 143 (2): 691-699. February 2019

E47 modulates hepatic glucocorticoid action.
Hemmer, M.C., Wierer, M., Schachtrup, K., Downes, M., Hübner, N., Evans, R.M. and Uhlenhaut, N.H.
Nature Communications 10 (1): 306. 18 January 2019

An integrated understanding of the molecular mechanisms how adipose tissue metabolism affects long-term body weight maintenance.
Mai, K., Li, L., Wiegand, S., Brachs, M., Leupelt, V., Ernert, A., Kühnen, P., Hübner, N., Robinson, P., Chen, W., Krude, H. and Spranger, J.
Diabetes 68 (1): 57-65. 1 January 2019

2018

Telmisartan prevents diet-induced obesity and preserves leptin transport across the blood-brain barrier in high-fat diet-fed mice.
Schuster, F., Huber, G., Stölting, I., Wing, E.E., Saar, K., Hübner, N., Banks, W.A. and Raasch, W.
Pflugers Archiv 470 (11): 1673-1689. November 2018

Evaluation of food allergy candidate loci in the Genetics of Food Allergy Study.
Marenholz, I., Grosche, S., Rüschendorf, F., Kalb, B., Blumchen, K., Schlags, R., Harandi, N., Price, M., Hansen, G., Seidenberg, J., Yürek, S., Homuth, G., Schmidt, C.O., Nöthen, M.M., Hubner, N., Niggemann, B., Beyer, K. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 142 (4): 1368-1370. October 2018

Thyroid cancer cells in space during the TEXUS-53 sounding rocket mission - The THYROID Project.
Kopp, S., Krüger, M., Feldmann, S., Oltmann, H., Schütte, A., Schmitz, B., Bauer, J., Schulz, H., Saar, K., Hübner, N., Wehland, M., Nassef, M.Z., Melnik, D., Meltendorf, S., Infanger, M. and Grimm, D.
Scientific Reports 8 (1): 10355. 9 July 2018

Pathway analysis hints towards beneficial effects of long-term vibration on human chondrocytes.
Lützenberg, R., Solano, K., Buken, C., Sahana, J., Riwaldt, S., Kopp, S., Krüger, M., Schulz, H., Saar, K., Huebner, N., Hemmersbach, R., Bauer, J., Infanger, M., Grimm, D. and Wehland, M.
Cellular Physiology and Biochemistry 47 (4): 1729-1741. 28 June 2018

Nrf2-mediated antioxidant defense and peroxiredoxin 6 are linked to biosynthesis of palmitic acid ester of 9-hydroxystearic acid.
Kuda, O., Brezinova, M., Silhavy, J., Landa, V., Zidek, V., Dodia, C., Kreuchwig, F., Vrbacky, M., Balas, L., Durand, T., Hübner, N., Fisher, A.B., Kopecky, J. and Pravenec, M.
Diabetes 67 (6): 1190-1199. June 2018

SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility.
Günther, C., Lee-Kirsch, M.A., Eckhard, J., Matanovic, A., Kerscher, T., Rüschendorf, F., Klein, B., Berndt, N., Zimmermann, N., Flachmeier, C., Thuß, T., Lucas, N., Marenholz, I., Esparza-Gordillo, J., Hübner, N., Traupe, H., Delaporte, E. and Lee, Y.A.
Journal of Investigative Dermatology 138 (6): 1428-1431. June 2018

A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma.
Asai, Y., Eslami, A., van Ginkel, C.D., Akhabir, L., Wan, M., Yin, D., Ellis, G., Ben-Shoshan, M., Marenholz, I., Martino, D., Ferreira, M.A., Allen, K., Mazer, B., de Groot, H., de Jong, N.W., Gerth van Wijk, R., Dubois, A.E.J., Grosche, S., Ashley, S., Rüschendorf, F., Kalb, B., Beyer, K., Nöthen, M.M., Lee, Y.A., Chin, R., Cheuk, S., Hoffman, J., Jorgensen, E., Witte, J.S., Melles, R.B., Hong, X., Wang, X., Hui, J., Musk, A.W.B., Hunter, M., James, A.L., Koppelman, G.H., Sandford, A.J., Clarke, A.E. and Daley, D.
Journal of Allergy and Clinical Immunology 141 (4): 1513-1516. April 2018

Human induced pluripotent stem cell production and expansion from blood using a non-integrating viral reprogramming vector.
Sharma, A., Mücke, M. and Seidman, C.E.
Current Protocols in Molecular Biology 122 (1): e58. April 2018

Brain region-specific expression of genes mapped within quantitative trait loci for behavioral responsiveness to acute stress in Fisher 344 and Wistar Kyoto male rats.
Meckes, J.K., Lim, P.H., Wert, S.L., Luo, W., Gacek, S.A., Platt, D., Jankord, R., Saar, K. and Redei, E.E.
PLoS ONE 13 (3): e0194293. 12 March 2018

The role of NFκB in spheroid formation of human breast cancer cells cultured on the Random Positioning Machine.
Kopp, S., Sahana, J., Islam, T., Petersen, A.G., Bauer, J., Corydon, T.J., Schulz, H., Saar, K., Huebner, N., Slumstrup, L., Riwaldt, S., Wehland, M., Infanger, M., Luetzenberg, R. and Grimm, D.
Scientific Reports 8 (1): 921. 17 January 2018

2017

IL11 is a crucial determinant of cardiovascular fibrosis.
Schafer, S., Viswanathan, S., Widjaja, A.A., Lim, W.W., Moreno-Moral, A., DeLaughter, D.M., Ng, B., Patone, G., Chow, K., Khin, E., Tan, J., Chothani, S.P., Ye, L., Rackham, O.J., Ko, N.S., Sahib, N.E., Pua, C.J., Zhen, N.T., Xie, C., Wang, M., Maatz, H., Lim, S., Saar, K., Blachut, S., Petretto, E., Schmidt, S., Putoczki, T., Guimarães-Camboa, N., Wakimoto, H., van Heesch, S., Sigmundsson, K., Lim, S.L., Soon, J.L., Chao, V.T., Chua, Y.L., Tan, T.E., Evans, S.M., Loh, Y.J., Jamal, M.H., Ong, K.K., Chua, K.C., Ong, B.H., Chakaramakkil, M.J., Seidman, J.G., Seidman, C.E., Hubner, N., Sin, K.Y. and Cook, S.A.
Nature 552 (7683): 110-115. 7 December 2017

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira, M.A., Vonk, J.M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J.D., Helmer, Q., Tillander, A., Ullemar, V., van Dongen, J., Lu, Yi, Rueschendorf, F., Esparza-Gordillo, J., Medway, C.W., Mountjoy, E., Burrows, K., Hummel, O., Grosche, S., Brumpton, B.M., Witte, J.S., Hottenga, J.J., Willemsen, G., Zheng, J., Rodriguez, E., Hotze, M., Franke, A., Revez, J.A., Beesley, J., Matheson, M.C., Dharmage, S.C., Bain, L.M., Fritsche, L.G., Gabrielsen, M.E., Balliu, B., Nielsen, J.B., Zhou, W., Hveem, K., Langhammer, A., Holmen, O.L., Løset, M., Abecasis, G.R., Willer, C.J., Arnold, A., Homuth, G., Schmidt, C.O., Thompson, P.J., Martin, N.G., Duffy, D.L., Novak, N., Schulz, H., Karrasch, S., Gieger, C., Strauch, K., Melles, R.B., Hinds, D.A., Hübner, N., Weidinger, S., Magnusson, P.K.E., Jansen, R., Jorgenson, E., Lee, Y.A., Boomsma, D.I., Almqvist, C., Karlsson, R., Koppelman, G.H. and Paternoster, L.
Nature Genetics 49 (12): 1752-1757. December 2017

Transmembrane helix connectivity in Orai1 controls two gates for calcium-dependent transcription.
Frischauf, I., Litviňuková, M., Schober, R., Zayats, V., Svobodova, B., Bonhenry, D., Lunz, V., Cappello, S., Tociu, L., Reha, D., Stallinger, A., Hochreiter, A., Pammer, T., Butorac, C., Muik, M., Groschner, K., Bogeski, I., Ettrich, R.H., Romanin, C. and Schindl, R.
Science Signaling 10 (507): eaao0358. 28 November 2017

Cardiac myocyte miR-29 promotes pathological remodeling of the heart by activating Wnt signaling.
Sassi, Y., Avramopoulos, P., Ramanujam, D., Grüter, L., Werfel, S., Giosele, S., Brunner, A.D., Esfandyari, D., Papadopoulou, A.S, De Strooper, B., Hübner, N., Kumarswamy, R., Thum, T., Yin, X., Mayr, M., Laggerbauer, B. and Engelhardt, S.
Nature Communications 8 (1): 1614. 20 November 2017

Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.
Marenholz, I., Grosche, S., Kalb, B., Rüschendorf, F., Blümchen, K., Schlags, R., Harandi, N., Price, M., Hansen, G., Seidenberg, J., Röblitz, H., Yürek, S., Tschirner, S., Hong, X., Wang, X., Homuth, G., Schmidt, C.O., Nöthen, M.M., Hübner, N., Niggemann, B., Beyer, K. and Lee, Y.A.
Nature Communications 8 (1): 1056. 20 October 2017

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
Heinig, M., Adriaens, M.E., Schafer, S., van Deutekom, H.W.M., Lodder, E.M., Ware, J.S., Schneider, V., Felkin, L.E., Creemers, E.E., Meder, B., Katus, H.A., Rühle, F., Stoll, M., Cambien, F., Villard, E., Charron, P., Varro, A., Bishopric, N.H., George, A.L., Dos Remedios, C., Moreno-Moral, A., Pesce, F., Bauerfeind, A., Rüschendorf, F., Rintisch, C., Petretto, E., Barton, P.J., Cook, S.A., Pinto, Y.M., Bezzina, C.R. and Hubner, N.
Genome Biology 18 (1): 170. 14 September 2017

Rattus norvegicus BN/SHR liver and heart left ventricle ribosomal RNA depleted directional RNA sequencing.
Wyler, E., van Heesch, S., Adami, E., Hubner, N. and Landthaler, M.
BMC Research Notes 10 (1): 395. 11 August 2017

Sex in basic research: concepts in the cardiovascular field.
Ventura-Clapier, R., Dworatzek, E., Seeland, U., Kararigas, G., Arnal, J.F., Brunelleschi, S., Carpenter, T.C., Erdmann, J., Franconi, F., Giannetta, E., Glezerman, M., Hofmann, S.M., Junien, C., Katai, M., Kublickiene, K., Koenig, I.R., Majdic, G., Malorni, W., Mieth, C., Miller, V.M., Reynolds, R.M., Shimokawa, H., Tannenbaum, C., D'Ursi, A.M. and Regitz-Zagrosek, V.
Cardiovascular Research 113 (7): 711-724. June 2017

Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders.
Lorenz, C., Lesimple, P., Bukowiecki, R., Zink, A., Inak, G., Mlody, B., Singh, M., Semtner, M., Mah, N., Auré, K., Leong, M., Zabiegalov, O., Lyras, E.M., Pfiffer, V., Fauler, B., Eichhorst, J., Wiesner, B., Huebner, N., Priller, J., Mielke, T., Meierhofer, D., Izsvák, Z., Meier, J.C., Bouillaud, F., Adjaye, J., Schuelke, M., Wanker, E.E., Lombès, A. and Prigione, A.
Cell Stem Cell 20 (5): 659-674.e9. 4 May 2017

Tumour ischaemia by interferon-γ resembles physiological blood vessel regression.
Kammertoens, T., Friese, C., Arina, A., Idel, C., Briesemeister, D., Rothe, M., Ivanov, A., Szymborska, A., Patone, G., Kunz, S., Sommermeyer, D., Engels, B., Leisegang, M., Textor, A., Fehling, H.J., Fruttiger, M., Lohoff, M., Herrmann, A., Yu, H., Weichselbaum, R., Uckert, W., Hübner, N., Gerhardt, H., Beule, D., Schreiber, H. and Blankenstein, T.
Nature 545 (7652): 98-102. 4 May 2017

Transcriptome-wide identification of RNA-binding protein binding sites using photoactivatable-ribonucleoside-enhanced crosslinking immunoprecipitation (PAR-CLIP).
Maatz, H., Kolinski, M., Hubner, N. and Landthaler, M.
Current Protocols in Molecular Biology 118 : 27.6.1-27.6.19. 3 April 2017

Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.
Coan, P.M., Hummel, O., Diaz, A.I.G., Barrier, M., Alfazema, N., Norsworthy, P.J., Pravenec, M., Petretto, E., Hübner, N. and Aitman, T.J.
Disease Models & Mechanisms 10 (3): 297-306. 1 March 2017

Transcriptome-wide co-expression analysis identifies LRRC2 as a novel mediator of mitochondrial and cardiac function.
McDermott-Roe, C., Leleu, M., Rowe, G.C., Palygin, O., Bukowy, J.D., Kuo, J., Rech, M., Hermans-Beijnsberger, S., Schaefer, S., Adami, E., Creemers, E.E., Heinig, M., Schroen, B., Arany, Z., Petretto, E. and Geurts, A.M.
PLoS ONE 12 (2): e0170458. 3 February 2017

Adverse left ventricular remodeling by glycoprotein nonmetastatic melanoma protein B in myocardial infarction.
Järve, A., Mühlstedt, S., Qadri, F., Nickl, B., Schulz, H., Hübner, N., Özcelik, C. and Bader, M.
FASEB Journal 31 (2): 556-568. February 2017

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp, S., van Heesch, S., Braat, A.K., de Ligt, J., van Iterson, M., Simonis, M., van Roosmalen, M.J., Kelder, M.J.E., Kruisselbrink, E., Hochstenbach, R., Verbeek, N.E., Ippel, E.F., Adolfs, Y., Pasterkamp, R.J., Kloosterman, W.P., Kuijk, E.W. and Cuppen, E.
Genome Medicine 9 (1): 9. 26 January 2017

Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer, S., de Marvao, A., Adami, E., Fiedler, L.R., Ng, B., Khin, E., Rackham, O.J.L., van Heesch, S., Pua, C.J., Kui, M., Walsh, R., Tayal, U., Prasad, S.K., Dawes, T.J.W., Ko, N.S.J., Sim, D., Chan, L.L.H., Chin, C.W.L., Mazzarotto, F., Barton, P.J., Kreuchwig, F., de Kleijn, D.P.V., Totman, T., Biffi, C., Tee, N., Rueckert, D., Schneider, V., Faber, A., Regitz-Zagrosek, V., Seidman, J.G., Seidman, C.E., Linke, W.A., Kovalik, J.P., O'Regan, D., Ware, J.S., Hubner, N. and Cook, S.A.
Nature Genetics 49 (1): 46-53. January 2017

Epigenetics and control of RNAs.
Maatz, H., van Heesch, S., Kreuchwig, F., Faber, A., Adami, E., Hubner, N. and Heinig, M.
Methods in Molecular Biology 1488 : 217-237. 2017

2016

The Slavic NBN founder mutation: a role for reproductive fitness?
Seemanova, E., Varon, R., Vejvalka, J., Jarolim, P., Seeman, P., Chrzanowska, K.H., Digweed, M., Resnick, I., Kremensky, I., Saar, K., Hoffmann, K., Dutrannoy, V., Karbasiyan, M., Ghani, M., Baric, I., Tekin, M., Kovacs, P., Krawczak, M., Reis, A., Sperling, K. and Nothnagel, M.
PLoS ONE 11 (12): e0167984. 9 December 2016

A mutation in the glutamate-rich region of RBM20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali, A., Bollen, I.A.E., Rasmussen, T.B., van den Hoogenhof, M.M., van Deutekom, H.W.M., Schafer, S., Haas, J., Meder, B., Sorensen, K.E., van Oort, R.J., Mogensen, J., Hubner, N., Creemers, E.E., van der Velden, J. and Pinto, Y.M.
Cardiovascular Research 112 (1): 452-463. 1 October 2016

52 genetic loci influencing myocardial mass.
van der Harst, P., van Setten, J., Verweij, N., Vogler, G., Franke, L., Maurano, M.T., Wang, X., Mateo Leach, I., Eijgelsheim, M., Sotoodehnia, N., Hayward, C., Sorice, R., Meirelles, O., Lyytikaeinen, L.P., Polašek, O., Tanaka, T., Arking, D.E., Ulivi, S., Trompet, S., Mueller-Nurasyid, M., Smith, A.V., Dörr, M., Kerr, K.F., Magnani, J.W., Del Greco, M.F., Zhang, W., Nolte, I.M., Silva, C.T., Padmanabhan, S., Tragante, V., Esko, T., Abecasis, G.R., Adriaens, M.E., Andersen, K., Barnett, P., Bis, J.C., Bodmer, R., Buckley, B.M., Campbell, H., Cannon, M.V., Chakravarti, A., Chen, L.Y., Delitala, A., Devereux, R.B., Doevendans, P.A., Dominiczak, A.F., Ferrucci, L., Ford, I., Gieger, C., Harris, T.B., Haugen, E., Heinig, M., Hernandez, D.G., Hillege, H.L., Hirschhorn, J.N., Hofman, A., Hubner, N., Hwang, S.J., Iorio, A., Kaehoenen, M., Kellis, M., Kolcic, I., Kooner, Is.K., Kooner, J.S., Kors, J.A., Lakatta, E.G., Lage, K., Launer, L.J., Levy, D., Lundby, A., Macfarlane, P.W., May, D., Meitinger, T., Metspalu, A., Nappo, S., Naitza, S., Neph, S., Nord, A.S., Nutile, T., Okin, P.M., Olsen, J.V., Oostra, B.A., Penninger, J.M., Pennacchio, L.A., Pers, T.H., Perz, S., Peters, A., Pinto, Y.M., Pfeufer, A., Pilia, M.G., Pramstaller, P.P., Prins, B.P., Raitakari, O.T., Raychaudhuri, S., Rice, K.M., Rossin, E.J., Rotter, J.I., Schaefer, S., Schlessinger, D., Schmidt, C.O., Sehmi, J., Sillje, H.H.W., Sinagra, G., Sinner, M.F., Slowikowski, K., Soliman, E.Z., Spector, T.D., Spiering, W., Stamatoyannopoulos, J.A., Stolk, R.P., Strauch, K., Tan, S.T., Tarasov, K.V., Trinh, B., Uitterlinden, A.G., van den Boogaard, M., van Duijn, C.M., van Gilst, W.H., Viikari, J.S., Visscher, P.M., Vitart, V., Völker, U., Waldenberger, M., Weichenberger, C.X., Westra, H.J., Wijmenga, C., Wolffenbuttel, B.H., Yang, J., Bezzina, C.R., Munroe, P.B., Snieder, H., Wright, A.F., Rudan, I., Boyer, L.A., Asselbergs, F.W., van Veldhuisen, D.J., Stricker, B.H., Psaty, B.M., Ciullo, M., Sanna, S., Lehtimäki, T., Wilson, J.F., Bandinelli, S., Alonso, A., Gasparini, P., Jukema, J.W., Kääb, S., Gudnason, V., Felix, S.B., Heckbert, S.R., de Boer, R.A., Newton-Cheh, C., Hicks, A.A., Chambers, J.C., Jamshidi, Y., Visel, A., Christoffels, V.M., Isaacs, A., Samani, N.J. and de Bakker, P.I.W.
Journal of the American College of Cardiology 68 (13): 1435-1448. 27 September 2016

Association of TMTC2 with human nonsyndromic sensorineural hearing loss.
Runge, C.L., Indap, A., Zhou, Y., Kent, J.W., King, E., Erbe, C.B., Cole, R., Littrell, J., Merath, K., James, R., Rüschendorf, F., Kerschner, J.E., Marth, G., Hübner, N., Göring, H.H.H., Friedland, D.R., Kwok, W.M. and Olivier, M.
JAMA Otolaryngology Head & Neck Surgery 142 (9): 866-872. 1 September 2016

Transcriptional profiling of regenerating embryonic mouse hearts.
Magarin, M., Schulz, H., Thierfelder, L. and Drenckhahn, J.D.
Genomics Data 9 : 145-147. September 2016

Embryonic cardiomyocytes can orchestrate various cell protective mechanisms to survive mitochondrial stress.
Magarin, M., Pohl, T., Lill, A., Schulz, H., Blaschke, F., Heuser, A., Thierfelder, L., Donath, S. and Drenckhahn, J.D.
Journal of Molecular and Cellular Cardiology 97 : 1-14. August 2016

Human engineered heart tissue: analysis of contractile force.
Mannhardt, I., Breckwoldt, K., Letuffe-Brenière, D., Schaaf, S., Schulz, H., Neuber, C., Benzin, A., Werner, T., Eder, A., Schulze, T., Klampe, B., Christ, T., Hirt, M.N., Huebner, N., Moretti, A., Eschenhagen, T. and Hansen, A.
Stem Cell Reports 7 (1): 29-42. 12 July 2016

Wars2 is a determinant of angiogenesis.
Wang, M., Sips, P., Khin, E., Rotival, M., Sun, X., Ahmed, R., Widjaja, A.A., Schafer, S., Yusoff, P., Choksi, Pe.K., Ko, N.S.J., Singh, M.K., Epstein, D., Guan, Y., Houštěk, J., Mracek, T., Nuskova, H., Mikell, B., Tan, J., Pesce, F., Kolar, F., Bottolo, L., Mancini, M., Hubner, N., Pravenec, M., Petretto, E., MacRae, C. and Cook, S.A.
Nature Communications 7 : 12061. 8 July 2016

ANP system activity predicts variability of fat mass reduction and insulin sensitivity during weight loss.
Brachs, M., Wiegand, S., Leupelt, V., Ernert, A., Kintscher, U., Jumpertz von Schwarzenberg, R., Decker, A.M., Bobbert, T., Hübner, N., Chen, W., Krude, H., Spranger, J. and Mai, K.
Metabolism 65 (6): 935-943. June 2016

Von Willebrand factor gene variants associate with herpes simplex encephalitis.
Abdelmagid, N., Bereczky-Veress, B., Atanur, S., Musilová, A., Zidek, V., Saba, L., Warnecke, A., Khademi, M., Studahl, M., Aurelius, E., Hjalmarsson, A., Garcia-Diaz, A., Denis, C.V., Bergström, T., Sköldenberg, B., Kockum, I., Aitman, T., Hübner, N., Olsson, T., Pravenec, M. and Diez, M.
PLoS ONE 11 (5): e0155832. 25 May 2016

A roadmap of constitutive NF-κB activity in Hodgkin lymphoma: dominant roles of p50 and p52 revealed by genome-wide analyses.
de Oliveira, K.A.P., Kaergel, E., Heinig, M., Fontaine, J.F., Patone, G., Muro, E.M., Mathas, S., Hummel, M., Andrade-Navarro, M.A., Hübner, N. and Scheidereit, C.
Genome Medicine 8 (1): 28. 17 March 2016

Systems genetics analysis of a recombinant inbred mouse cell culture panel reveals Wnt pathway member Lrp6 as a regulator of adult hippocampal precursor cell proliferation.
Kannan, S., Nicola, Z., Overall, R.W., Ichwan, M., Ramírez-Rodríguez, G., Grzyb, A., Patone, G., Saar, K., Hübner, N. and Kempermann, G.
Stem Cells 34 (3): 674-684. March 2016

Ndufc2 gene inhibition is associated with mitochondrial dysfunction and increased stroke susceptibility in an animal model of complex human disease.
Rubattu, S., Di Castro, S., Schulz, H., Geurts, A.M., Cotugno, M., Bianchi, F., Maatz, H., Hummel, O., Falak, S., Stanzione, R., Marchitti, S., Scarpino, S., Giusti, B., Kura, A., Gensini, G.F., Peyvandi, F., Mannucci, P.M., Rasura, M., Sciarretta, S., Dwinell, M.R., Hubner, N. and Volpe, M.
Journal of the American Heart Association 5 (2): e00270. 17 February 2016

Genome-wide polyadenylation maps reveal dynamic mRNA 3'-end formation in the failing human heart.
Creemers, E.E., Bawazeer, A., Ugalde, A.P., van Deutekom, H.W.M., van der Made, I., de Groot, N.E., Adriaens, M.E., Cook, S.A., Bezzina, C.R., Hubner, N., van der Velden, J., Elkon, R., Agami, R. and Pinto, Y.M.
Circulation Research 118 (3): 433-438. 5 February 2016

DNA methylation in an engineered heart tissue model of cardiac hypertrophy: common signatures and effects of DNA methylation inhibitors.
Stenzig, J., Hirt, M.N., Löser, A., Bartholdt, L.M., Hensel, J.T., Werner, T.R., Riemenschneider, M., Indenbirken, D., Guenther, T., Müller, C., Hübner, N., Stoll, M. and Eschenhagen, T.
Basic Research in Cardiology 111 (1): 9. January 2016

2015

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster, L., Standl, M., Waage, J., Baurecht, H., Hotze, M., Strachan, D.P., Curtin, J.A., Bønnelykke, K., Tian, C., Takahashi, A., Esparza-Gordillo, J., Alves, A.C., Thyssen, J.P., den Dekker, H.T., Ferreira, M.A., Altmaier, E., Sleiman, P.M.A., Xiao, F.L., Gonzalez, J.R., Marenholz, I., Kalb, B., Pino-Yanes, M., Xu, C.J., Carstensen, L., Groen-Blokhuis, M.M., Venturini, C., Pennell, C.E., Barton, S.J., Levin, A.M., Curjuric, I., Bustamante, M., Kreiner-Møller, E., Lockett, G.A., Bacelis, J., Bunyavanich, S., Myers, R.A., Matanovic, A., Kumar, A., Tung, J.Y., Hirota, T., Kubo, M., McArdle, W.L., Henderson, A.J., Kemp, J.P., Zheng, J., Smith, G.D., Rüschendorf, F., Bauerfeind, A., Lee-Kirsch, M.A., Arnold, A., Homuth, G., Schmidt, C.O., Mangold, E., Cichon, S., Keil, T., Rodríguez, E., Peters, A., Franke, A., Lieb, W., Novak, N., Fölster-Holst, R., Horikoshi, M., Pekkanen, J., Sebert, S., Husemoen, L.L., Grarup, N., de Jongste, J.C., Rivadeneira, F., Hofman, A., Jaddoe, V.W.V., Pasmans, S.G.M.A., Elbert, N.J., Uitterlinden, A.G., Marks, G.B., Thompson, P.J., Matheson, M.C., Robertson, C.F., Ried, J.S., Li, J., Zuo, X.B., Zheng, X.D., Yin, X.Y., Sun, L.D., McAleer, M.A., O'Regan, G.M., Fahy, C.M.R., Campbell, L.E., Macek, M., Kurek, M., Hu, D., Eng, C., Postma, D.S., Feenstra, B., Geller, F., Hottenga, J.J., Middeldorp, C.M., Hysi, P., Bataille, V., Spector, T., Tiesler, C.M.T., Thiering, E., Pahukasahasram, B., Yang, J.J., Imboden, M., Huntsman, S., Vilor-Tejedor, N., Relton, C.L., Myhre, R., Nystad, W., Custovic, A., Weiss, S.T., Meyers, D.A., Söderhäll, C., Melén, E., Ober, C., Raby, B.A., Simpson, A., Jacobsson, B., Holloway, J.W., Bisgaard, H., Sunyer, J., Probst-Hensch, N.M., Williams, L.K., Godfrey, K.M., Wang, C.A., Boomsma, D.I., Melbye, M., Koppelman, G.H., Jarvis, D., McLean, W.H.I., Irvine, A.D., Zhang, X.J., Hakonarson, H., Gieger, C., Burchard, E.G., Martin, N.G., Duijts, L., Linneberg, A., Jarvelin, M.R., Noethen, M.M., Lau, S., Hübner, N., Lee, Y.A., Tamari, M., Hinds, D.A., Glass, D., Brown, S.J., Heinrich, J., Evans, D.M. and Weidinger, S.
Nature Genetics 47 (12): 1449-1456. December 2015

Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz, I., Esparza-Gordillo, J., Rüschendorf, F., Bauerfeind, A., Strachan, D.P., Spycher, B.D., Baurecht, H., Margaritte-Jeannin, P., Sääf, A., Kerkhof, M., Ege, M., Baltic, S., Matheson, M.C., Li, J., Michel, S., Ang, W.Q., McArdle, W., Arnold, A., Homuth, G., Demenais, F., Bouzigon, E., Söderhäll, C., Pershagen, G., de Jongste, J.C., Postma, D.S., Braun-Fahrlaender, C., Horak, E., Ogorodova, L.M., Puzyrev, V.P., Bragina, E.Y., Hudson, T.J., Morin, C., Duffy, D.L., Marks, G.B., Robertson, C.F., Montgomery, G.W., Musk, B., Thompson, P.J., Martin, N.G., James, A., Sleiman, P., Toskala, E., Rodriguez, E., Fölster-Holst, R., Franke, A., Lieb, W., Gieger, C., Heinzmann, A., Rietschel, E., Keil, T., Cichon, S., Nöthen, M.M., Pennell, C.E., Sly, P.D., Schmidt, C.O., Matanovic, A., Schneider, V., Heinig, M., Hübner, N., Holt, P.G., Lau, S., Kabesch, M., Weidinger, S., Hakonarson, H., Ferreira, M.A.R., Laprise, C., Freidin, M.B., Genuneit, J., Koppelman, G.H., Melén, E., Dizier, M.H., Henderson, A.J. and Lee, Y.A.
Nature Communications 6 : 8804. 6 November 2015

High salt reduces the activation of IL-4- and IL-13-stimulated macrophages.
Binger, K.J., Gebhardt, M., Heinig, M., Rintisch, C., Schroeder, A., Neuhofer, W., Hilgers, K., Manzel, A., Schwartz, C., Kleinewietfeld, M., Voelkl, J., Schatz, V., Linker, R.A., Lang, F., Voehringer, D., Wright, M.D., Hubner, N., Dechend, R., Jantsch, J., Titze, J. and Müller, D.N.
Journal of Clinical Investigation 125 (11): 4223-4238. 2 November 2015

Complement receptor 2 is up regulated in the spinal cord following nerve root injury and modulates the spinal cord response.
Lindblom, R.P.F., Berg, A., Ström, M., Aeinehband, S., Dominguez, C.A., Al Nimer, F., Abdelmagid, N., Heinig, M., Zelano, J., Harnesk, K., Hübner, N., Nilsson, B., Ekdahl, K.N., Diez, M., Cullheim, S. and Piehl, F.
Journal of Neuroinflammation 12 : 192. 26 October 2015

Alternative splicing signatures in RNA-seq data: percent spliced in (PSI).
Schafer, S., Miao, K., Benson, C.C., Heinig, M., Cook, S.A. and Hubner, N.
Current Protocols in Human Genetics 87 : 11.16.1-11.16.14. 6 October 2015

Novel candidate genes for impaired nephron development in a rat model with inherited nephron deficit and albuminuria.
Herlan, L., Schulz, A., Schulte, L., Schulz, H., Hübner, N. and Kreutz, R.
Clinical and Experimental Pharmacology and Physiology 42 (10): 1051-1058. October 2015

The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function.
Albert, G.I., Schell, C., Kirschner, K.M., Schäfer, S., Naumann, R., Müller, A., Kretz, O., Kuropka, B., Girbig, M., Hübner, N., Krause, E., Scholz, H., Huber, T.B., Knobeloch, K.P. and Freund, C.
Journal of Molecular Cell Biology 7 (5): 402-414. October 2015

ZBTB17 (MIZ1) is important for the cardiac stress response and a novel candidate gene for cardiomyopathy and heart failure.
Buyandelger, B., Mansfield, C., Kostin, S., Choi, O., Roberts, A.M., Ware, J.S., Mazzarotto, F., Pesce, F., Buchan, R., Isaacson, R.L., Vouffo, J., Gunkel, S., Knoell, G., McSweeney, S.J., Wei, H., Perrot, A., Pfeiffer, C., Toliat, M.R., Ilieva, K., Krysztofinska, E., López-Olañeta, M.M., Gómez-Salinero, J.M., Schmidt, A., Ng, K.E., Teucher, N., Chen, J., Teichmann, M., Eilers, M., Haverkamp, W., Regitz-Zagrosek, V., Hasenfuss, G., Braun, T., Pennell, D.J., Gould, I., Barton, P.J.R., Lara-Pezzi, E., Schäfer, S., Hübner, N., Felkin, L.E., O'Regan, D.P., Petretto, E., Brand, T., Milting, H., Nürnberg, P., Schneider, M.D., Prasad, S. and Knöll, R.
Circulation Cardiovascular Genetics 8 (5): 643-652. October 2015

Gene repositioning within the cell nucleus is not random and is determined by its genomic neighborhood.
Jost, K.L., Bertulat, B., Rapp, A., Brero, A., Hardt, T., Domaing, P., Gösele, C., Schulz, H., Hübner, N. and Cardoso, M.C.
Epigenetics & Chromatin 8 : 36. 17 September 2015

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.
Schaarschmidt, H., Ellinghaus, D., Rodríguez, E., Kretschmer, A., Baurecht, H., Lipinski, S., Meyer-Hoffert, U., Harder, J., Lieb, W., Novak, N., Fölster-Holst, R., Esparza-Gordillo, J., Marenholz, I., Ruschendorf, F., Hubner, N., Reischl, E., Waldenberger, M., Gieger, C., Illig, T., Kabesch, M., Zhang, X.J., Xiao, F.L., Lee, Y.A., Franke, A. and Weidinger, S.
Journal of Allergy and Clinical Immunology 136 (3): 802-806. September 2015

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson, J.T., Chopra, A., Nafissi, N., Polacheck, W.J., Benson, C.C., Swist, S., Gorham, J., Yang, L., Schafer, S., Sheng, C.C., Haghighi, A., Homsy, J., Hubner, N., Church, G., Cook, S.A., Linke, W.A., Chen, C.S., Seidman, J.G. and Seidman, C.E.
Science 349 (6251): 982-986. 28 August 2015

Alternatively spliced isoforms of WT1 control podocyte-specific gene expression.
Lefebvre, J., Clarkson, M., Massa, F., Bradford, S.T., Charlet, A., Buske, F., Lacas-Gervais, S., Schulz, H., Gimpel, C., Hata, Y., Schaefer, F. and Schedl, A.
Kidney International 88 (2): 321-331. August 2015

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmüller, J., Thiele, H., Rueschendorf, F., Toliat, M.R., Kaleschke, G., Haemmerle, J.M., Hoehne, W., Sugahara, K., Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

Genomic redistribution of GR monomers and dimers mediates transcriptional response to exogenous glucocorticoid in vivo.
Lim, H.W., Uhlenhaut, N.H., Rauch, A., Weiner, J., Hübner, S., Hübner, N., Won, K.J., Lazar, M.A., Tuckermann, J. and Steger, D.J.
Genome Research 25 (6): 836-844. June 2015

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass, P.G., Aydin, A., Luft, F.C., Schächterle, C., Weise, A., Stricker, S., Lindschau, C., Vaegler, M., Qadri, F., Toka, H.R., Schulz, H., Krawitz, P.M., Parkhomchuk, D., Hecht, J., Hollfinger, I., Wefeld-Neuenfeld, Y., Bartels-Klein, E., Mühl, A., Kann, M., Schuster, H., Chitayat, D., Bialer, M.G., Wienker, T.F., Ott, J., Rittscher, K., Liehr, T., Jordan, J., Plessis, G., Tank, J., Mai, K., Naraghi, R., Hodge, R., Hopp, M., Hattenbach, L.O., Busjahn, A., Rauch, A., Vandeput, F., Gong, M., Rüschendorf, F., Hübner, N., Haller, H., Mundlos, S., Bilginturan, N., Movsesian, M.A., Klussmann, E., Toka, O. and Bähring, S.
Nature Genetics 47 (6): 647-653. June 2015

Translational regulation shapes the molecular landscape of complex disease phenotypes.
Schafer, S., Adami, E., Heinig, M., Costa Rodrigues, K.E., Kreuchwig, F., Silhavy, J., van Heesch, S., Simaite, D., Rajewsky, N., Cuppen, E., Pravenec, M., Vingron, M., Cook, S.A. and Hubner, N.
Nature Communications 6 : 7200. 26 May 2015

Quantitative interaction proteomics of neurodegenerative disease proteins.
Hosp, F., Vossfeldt, H., Heinig, M., Vasiljevic, D., Arumughan, A., Wyler, E., Landthaler, M., Hubner, N., Wanker, E.E., Lannfelt, L., Ingelsson, M., Lalowski, M., Voigt, A. and Selbach, M.
Cell Reports 11 (7): 1134-1146. 19 May 2015

Genomic landscape of rat strain and substrain variation.
Hermsen, R., de Ligt, J., Spee, W., Blokzijl, F., Schäfer, S., Adami, E., Boymans, S., Flink, S, van Boxtel, R., van der Weide, R.H., Aitman, T., Hübner, N., Simonis, M., Tabakoff, B., Guryev, V. and Cuppen, E.
BMC Genomics 16 : 357. 6 May 2015

Differential gene expression of human chondrocytes cultured under short-term altered gravity conditions during parabolic flight maneuvers.
Wehland, M., Aleshcheva, G., Schulz, H., Saar, K., Hübner, N., Hemmersbach, R., Braun, M., Ma, X., Frett, T., Warnke, E., Riwaldt, S., Pietsch, J., Corydon, T.J., Infanger, M. and Grimm, D.
Cell Communication and Signaling 13 (1): 18. 20 March 2015

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo, J., Matanovic, A., Marenholz, I., Bauerfeind, A., Rohde, K., Nemat, K., Lee-Kirsch, M.A., Nordenskjöld, M., Winge, M.C.G., Keil, T., Krüger, R., Lau, S., Beyer, K., Kalb, B., Niggemann, B., Hübner, N., Cordell, H.J., Bradley, M. and Lee, Y.A.
PLoS Genetics 11 (3): e1005076. 10 March 2015

histoneHMM: Differential analysis of histone modifications with broad genomic footprints.
Heinig, M., Colomé-Tatché, M., Taudt, A., Rintisch, C., Schafer, S., Pravenec, M., Hubner, N., Vingron, M. and Johannes, F.
BMC Bioinformatics 16 : 60. 22 February 2015

Genetic etiology of renal agenesis: fine mapping of renag1 and identification of Kit as the candidate functional gene.
Samanas, N.B., Commers, T.W., Dennison, K.L., Harenda, Q.E., Kurz, S.G., Lachel, C.M., Wavrin, K.L., Bowler, M., Nijman, I.J., Guryev, V., Cuppen, E., Hubner, N., Sullivan, R., Vezina, C.M. and Shull, J.D.
PLoS ONE 10 (2): e0118147. 18 February 2015

Alternatives Spleißen im Herzen [Alternative splicing in the heart].
Maatz, H., Heinig, M. and Hübner, N.
BIOspektrum 21 (1): 53-56. February 2015

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts, A.M., Ware, J.S., Herman, D.S., Schafer, S., Baksi, J., Bick, A.G., Buchan, R.J., Walsh, R., John, S., Wilkinson, S., Mazzarotto, F., Felkin, L.E., Gong, S., MacArthur, J.A.L., Cunningham, F., Flannick, J., Gabriel, S.B., Altshuler, D.M., Macdonald, P.S., Heinig, M., Keogh, A.M., Hayward, C.S., Banner, N.R., Pennell, D.J., O'Regan, D.P., San, T.R., de Marvao, A., Dawes, T.J.W., Gulati, A., Birks, E.J., Yacoub, M.H., Radke, M., Gotthardt, M., Wilson, J.G., O'Donnell, C.J., Prasad, S.K., Barton, P.J.R., Fatkin, D., Hubner, N., Seidman, J.G., Seidman, C.E. and Cook, S.A.
Science Translational Medicine 7 (270): 270ra6. 14 January 2015

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
Baurecht, H., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., Franke, A., Gieger, C., Hubner, N., Illig, T., Irvine, A.D., Kabesch, M., Lee, Y.A.E., Lieb, W., Marenholz, I., McLean, W.H.I., Morris, D.W., Mrowietz, U., Nair, R., Nöthen, M.M., Novak, N., O'Regan, G.M., Schreiber, S., Smith, C., Strauch, K., Stuart, P.E., Trembath, R., Tsoi, L.C., Weichenthal, M., Barker, J., Elder, J.T., Weidinger, S., Cordell, H.J. and Brown, S.J.
American Journal of Human Genetics 96 (1): 104-120. 8 January 2015

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.
Günther, C., Kind, B., Reijns, M.A.M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tüngler, V., Chara, O., Lee, Y.A., Hübner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K.R., Ramantani, G., Bauerfeind, A., Morris, D.L., Cunninghame Graham, D.S., Bubeck, D., Leitch, A., Ralston, S.H., Blackburn, E.A., Gahr, M., Witte, T., Vyse, T.J., Melchers, I., Mangold, E., Nöthen, M.M., Aringer, M., Kuhn, A., Lüthke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J.D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M.E., Jackson, A.P. and Lee-Kirsch, M.A.
Journal of Clinical Investigation 125 (1): 413-424. 2 January 2015

2014

Proteasome inhibition slightly improves cardiac function in mice with hypertrophic cardiomyopathy.
Schlossarek, S., Singh, S., Geertz, B., Schulz, H., Reischmann, S., Hübner, N. and Carrier, L.
Frontiers in Physiology 5 : 484. 16 December 2014

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J.R., de Kovel, C.G.F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M.R., Sander, T., Rueschendorf, F., Caliebe, A., Nagel, I., Kohl, B., Kecskes, A., Jacmin, M., Hardies, K., Weckhuysen, S., Riesch, E., Dorn, T., Brilstra, E.H., Baulac, S., Moller, R.S., Hjalgrim, H., Koeleman, B.P.C., Jurkat-Rott, K., Lehman-Horn, F., Roach, J.C., Glusman, G., Hood, L., Galas, D.J., Martin, B., de Witte, P.A.M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nuernberg, P., Crawford, A.D., Esguerra, C.V., Weber, Y.G. and Lerche, H.
Nature Genetics 46 (12): 1327-1332. December 2014

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite, D., Kofent, J., Gong, M., Rüschendorf, F., Jia, S., Arn, P., Bentler, K., Ellaway, C., Kühnen, P., Hoffmann, G.F., Blau, N., Spagnoli, F.M., Hübner, N. and Raile, K.
Diabetes 63 (10): 3557-3564. October 2014

Functional improvement and maturation of rat and human engineered heart tissue by chronic electrical stimulation.
Hirt, M.N., Boeddinghaus, J., Mitchell, A., Schaaf, S., Boernchen, C., Müller, C., Schulz, H., Hubner, N., Stenzig, J., Stoehr, A., Neuber, C., Eder, A., Luther, P.K., Hansen, A. and Eschenhagen, T.
Journal of Molecular and Cellular Cardiology 74 : 151-161. September 2014

AmotL2 disrupts apical-basal cell polarity and promotes tumour invasion.
Mojallal, M., Zheng, Y., Hultin, S., Audebert, S., van Harn, T., Johnsson, P., Lenander, C., Fritz, N., Mieth, C., Corcoran, M., Lembo, F., Hallstroem, M., Hartman, J., Mazure, N.M., Weide, T., Grander, D., Borg, J.P., Uhlen, P. and Holmgren, L.
Nature Communications 5 : 4557. 1 August 2014

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.
Maatz, H., Jens, M., Liss, M., Schafer, S., Heinig, M., Kirchner, M., Adami, E., Rintisch, C., Dauksaite, V., Radke, M.H., Selbach, M., Barton, P.J.R., Cook, S.A., Rajewsky, N., Gotthardt, M., Landthaler, M. and Hubner, N.
Journal of Clinical Investigation 124 (8): 3419-3430. 1 August 2014

WT1 controls antagonistic FGF and BMP-pSMAD pathways in early renal progenitors.
Motamedi, F.J., Badro, D.A., Clarkson, M., Rita Lecca, M., Bradford, S.T., Buske, F.A., Saar, K., Hübner, N., Bräendli, A.W. and Schedl, A.
Nature Communications 5 : 4444. 17 July 2014

Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat.
Falak, S., Schafer, S., Baud, A., Hummel, O., Schulz, H., Gauguier, D., Hubner, N. and Osborne-Pellegrin, M.
Physiological Genomics 46 (12): 418-428. 15 June 2014

Genomes and phenomes of a population of outbred rats and its progenitors.
Baud, A., Guryev, V., Hummel, O., Johannesson, M. and Flint, J.
Scientific Data 1 : 140011. 10 June 2014

Natural variation of histone modification and its impact on gene expression in the rat genome.
Rintisch, C., Heinig, M., Bauerfeind, A., Schafer, S., Mieth, C., Patone, G., Hummel, O., Chen, W., Cook, S., Cuppen, E., Colomé-Tatché, M., Johannes, F., Jansen, R.C., Neil, H., Werner, M., Pravenec, M., Vingron, M. and Hubner, N.
Genome Research 24 (6): 942-953. June 2014

Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
Auer, F., Rueschendorf, F., Gombert, M., Husemann, P., Ginzel, S., Izraeli, S., Harit, M., Weintraub, M., Weinstein, O.Y., Lerer, I., Stepensky, P., Borkhardt, A. and Hauer, J.
Leukemia 28 (5): 1136-1138. May 2014

Klf4 and Klf5 differentially inhibit mesoderm and endoderm differentiation in embryonic stem cells.
Aksoy, I., Giudice, V., Delahaye, E., Wianny, F., Aubry, M., Mure, M., Chen, J., Jauch, R., Bogu, G.K., Nolden, T., Himmelbauer, H., Doss, M.X., Sachinidis, A., Schulz, H., Hummel, O., Martinelli, P., Hübner, N., Stanton, L.W., Real, F.X., Bourillot, P.Y. and Savatier, P.
Nature Communications 5 : 3719. 28 April 2014

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Meder, B., Rühle, F., Weis, T., Homuth, G., Keller, A., Franke, J., Peil, B., Bermejo, J.L., Frese, K., Huge, A., Witten, A., Vogel, B., Haas, J., Völker, U., Ernst, F., Teumer, A., Ehlermann, P., Zugck, C., Friedrichs, F., Kroemer, H., Dörr, M., Hoffmann, W., Maisch, B., Pankuweit, S., Ruppert, V., Scheffold, T., Kühl, U., Schultheiss, H.P., Kreutz, R., Ertl, G., Angermann, C., Charron, P., Villard, E., Gary, F., Isnard, R., Komajda, M., Lutz, M., Meitinger, T., Sinner, M.F., Wichmann, H.E., Krawczak, M., Ivandic, B., Weichenhan, D., Gelbrich, G., El-Mokhtari, N.E., Schreiber, S., Felix, S.B., Hasenfuß, G., Pfeufer, A., Hübner, N., Kääb, S., Arbustini, E., Rottbauer, W., Frey, N., Stoll, M. and Katus, H.A.
European Heart Journal 35 (16): 1069-1077. 21 April 2014

Identification of Stim1 as a candidate gene for exaggerated sympathetic response to stress in the stroke-prone spontaneously hypertensive rat.
Ferdaus, M.Z., Xiao, B., Ohara, H., Nemoto, K., Harada, Y., Saar, K., Hübner, N., Isomura, M. and Nabika, T.
PLoS ONE 9 (4): e95091. 15 April 2014

Rosuvastatin can block pro-inflammatory actions of transgenic human CRP without reducing its circulating levels.
Šilhavý, J., Zídek, V., Landa, V., Šimáková, M., Mlejnek, P., Škop, V., Oliyarnyk, O., Kazdová, L., Mancini, M., Saar, K., Schulz, H., Hübner, N., Kurtz, T.W. and Pravenec, M.
Cardiovascular Therapeutics 32 (2): 59-65. April 2014

Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy.
Langhans, C., Weber-Carstens, S., Schmidt, F., Hamati, J., Kny, M., Zhu, X., Wollersheim, T., Koch, S., Krebs, M., Schulz, H., Lodka, D., Saar, K., Labeit, S., Spies, C., Hubner, N., Spranger, J., Spuler, S., Boschmann, M., Dittmar, G., Butler-Browne, G., Mouly, V. and Fielitz, J.
PLoS ONE 9 (3): e92048. 20 March 2014

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
Ragancokova, D., Rocca, E., Oonk, A.M.M., Schulz, H., Rohde, E., Bednarsch, J., Feenstra, I., Pennings, R.J.E., Wende, H. and Garratt, A.N.
Journal of Clinical Investigation 124 (3): 1214-1227. 3 March 2014

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau, C., Bonnemann, C.G., Julien, C., Kho, A.L., Marks, H., Talim, B., Maury, P., Arne-Bes, M.C., Uro-Coste, E., Alexandrovich, A., Vihola, A., Schafer, S., Kaufmann, B., Medne, L., Hübner, N., Foley, A.R., Santi, M., Udd, B., Topaloglu, H., Moore, S.A., Gotthardt, M., Samuels, M.E., Gautel, M. and Ferreiro, A.
Human Molecular Genetics 23 (4): 980-991. 15 February 2014

Unbiased expression mapping identifies a link between the complement and cholinergic systems in the rat central nervous system.
Lindblom, R.P.F., Ström, M., Heinig, M., Al Nimer, F., Aeinehband, S., Berg, A., Dominguez, C.A., Vijayaraghavan, S., Zhang, X.M., Harnesk, K., Zelano, J., Hübner, N., Cullheim, S., Darreh-Shori, T., Diez, M. and Piehl, F.
Journal of Immunology 192 (3): 1138-1153. 1 February 2014

Differential gene expression profile and altered cytokine secretion of thyroid cancer cells in space.
Ma, X., Pietsch, J., Wehland, M., Schulz, H., Saar, K., Hübner, N., Bauer, J., Braun, M., Schwarzwälder, A., Segerer, J., Birlem, M., Horn, A., Hemmersbach, R., Wasser, K., Grosse, J., Infanger, M. and Grimm, D.
FASEB Journal 28 (2): 813-835. February 2014

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Brooke, M.A., Longhurst, H.J., Plagnol, V., Kirkby, N.S., Mitchell, J.A., Rüschendorf, F., Warner, T.D., Kelsell, D.P. and MacDonald, T.T.
Gut 63 (1): 96-104. January 2014

2013

Quantitative and qualitative proteome characteristics extracted from in-depth integrated genomics and proteomics analysis.
Low, T.Y., van Heesch, S., van den Toorn, H., Giansanti, P., Cristobal, A., Toonen, P., Schaefer, S., Hübner, N., van Breukelen, B., Mohammed, S., Cuppen, E., Heck, A.J.R. and Guryev, V.
Cell Reports 5 (5): 1469-1478. 12 December 2013

TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue.
Pernhorst, K., Herms, S., Hoffmann, P., Cichon, S., Schulz, H., Sander, T., Schoch, S., Becker, A.J. and Grote, A.
Seizure 22 (8): 675-678. October 2013

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
Pakula, A., Schneider, J., Janke, J., Zacharias, U., Schulz, H., Hübner, N., Mähler, A., Spuler, A., Spuler, S., Carlier, P. and Boschmann, M.
PLoS ONE 8 (9): e73573. 3 September 2013

Defaut primaire d'eruption (DPE) : analyse genetique clinique et moleculaire [Primary failure of eruption (PFE): clinical and molecular genetics analysis].
Stellzig-Eisenhauer, A., Decker, E., Meyer-Marcotty, P., Rau, C., Fiebig, B.S., Kress, W., Saar, K., Rüschendorf, F., Hubner, N., Grimm, T., Witt, E. and Weber, B.H.F.
Orthodontie Francaise 84 (3): 241-250. September 2013

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.
Atanur, S.S., Diaz, A.G., Maratou, K., Sarkis, A., Rotival, M., Game, L., Tschannen, M.R., Kaisaki, P.J., Otto, G.W., John Ma, M.C., Keane, T.M., Hummel, O., Saar, K., Chen, W., Guryev, V., Gopalakrishnan, K., Garrett, M.R., Joe, B., Citterio, L., Bianchi, G., McBride, M., Dominiczak, A., Adams, D.J., Serikawa, T., Flicek, P., Cuppen, E., Hubner, N., Petretto, E., Gauguier, D., Kwitek, A., Jacob, H. and Aitman, T.J.
Cell 154 (3): 691-703. 1 August 2013

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
Esparza-Gordillo, J., Schaarschmidt, H., Liang, L., Cookson, W., Bauerfeind, A., Lee-Kirsch, M.A., Nemat, K., Henderson, J., Paternoster, L., Harper, J.L., Mangold, E., Nothen, M.M., Rüschendorf, F., Kerscher, T., Marenholz, I., Matanovic, A., Lau, S., Keil, T., Bauer, C.P., Kurek, M., Ciechanowicz, A., Macek, M., Franke, A., Kabesch, M., Hubner, N., Abecasis, G., Weidinger, S., Moffatt, M. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 132 (2): 371-377. August 2013

Evaluation of 41 candidate gene variants for obesity in the EPIC-Potsdam cohort by multi-locus stepwise regression.
Knueppel, S., Rohde, K., Meidtner, K., Drogan, D., Holzhuetter, H.G., Boeing, H. and Fisher, E.
PLoS ONE 8 (7): e68941. 12 July 2013

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt, A.K., Schaefer, S., Drenckhahn, J.D., Sabeh, M.K., Plovie, E.R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A.A., Kalwa, H., Heinig, M., Padera, R.F., Wassilew, K., Bluhm, J., Harnack, C., Martitz, J., Barton, P.J., Greutmann, M., Berger, F., Huebner, N., Siebert, R., Kramer, H.H., Cook, S.A., Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Interfering with Gal-1-mediated angiogenesis contributes to the pathogenesis of preeclampsia.
Freitag, N., Tirado-González, I., Barrientos, G., Herse, F., Thijssen, V.L.J.L., Weedon-Fekjær, S.M., Schulz, H., Wallukat, G., Klapp, B.F., Nevers, T., Sharma, S., Staff, A.C., Dechend, R. and Blois, S.M.
Proceedings of the National Academy of Sciences of the United States of America 110 (28): 11451-11456. 9 July 2013

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
Baud, A., Hermsen, R., Guryev, V., Stridh, P., Graham, D., McBride, M.W., Foroud, T., Calderari, S., Diez, M., Ockinger, J., Beyeen, A.D., Gillett, A., Abdelmagid, N., Guerreiro-Cacais, A.O., Jagodic, M., Tuncel, J., Norin, U., Beattie, E., Huynh, N., Miller, W.H., Koller, D.L., Alam, I., Falak, S., Osborne-Pellegrin, M., Martinez-Membrives, E., Canete, T., Blazquez, G., Vicens-Costa, E., Mont-Cardona, C., Diaz-Moran, S., Tobena, A., Hummel, O., Zelenika, D., Saar, K., Patone, G., Bauerfeind, A., Bihoreau, M.T., Heinig, M., Lee, Y.A., Rintisch, C., Schulz, H., Wheeler, D.A., Worley, K.C., Muzny, D.M., Gibbs, R.A., Lathrop, M., Lansu, N., Toonen, P., Ruzius, F.P., de Bruijn, E., Hauser, H., Adams, D.J., Keane, T., Atanur, S.S., Aitman, T.J., Flicek, P., Malinauskas, T., Jones, E.Y., Ekman, D., Lopez-Aumatell, R., Dominiczak, A.F., Johannesson, M., Holmdahl, R., Olsson, T., Gauguier, D., Hubner, N., Fernandez-Teruel, A., Cuppen, E., Mott, R. and Flint, J.
Nature Genetics 45 (7): 767-775. July 2013

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
Ellinghaus, D., Baurecht, H., Esparza-Gordillo, J., Rodríguez, E., Matanovic, A., Marenholz, I., Hübner, N., Schaarschmidt, H., Novak, N., Michel, S., Maintz, L., Werfel, T., Meyer-Hoffert, U., Hotze, M., Prokisch, H., Heim, K., Herder, C., Hirota, T., Tamari, M., Kubo, M., Takahashi, A., Nakamura, Y., Tsoi, L.C., Stuart, P., Elder, J.T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nöthen, M.M., Fölster-Holst, R., Winkelmann, J., Illig, T., Boehm, B.O., Duerr, R.H., Büning, C., Brandt, S., Glas, J., McAleer, M.A., Fahy, C.M., Kabesch, M., Brown, S., McLean, W.H.I., Irvine, A.D., Schreiber, S., Lee, Y.A., Franke, A. and Weidinger, S.
Nature Genetics 45 (7): 808-812. July 2013

Two genomic regions of chromosomes 1 and 18 explain most of the stroke susceptibility under salt loading in stroke-prone spontaneously hypertensive Rat/Izm.
Gandolgor, T.A., Ohara, H., Cui, Z.H., Hirashima, T., Ogawa, T., Saar, K., Hübner, N., Watanabe, T., Isomura, M. and Nabika, T.
Hypertension 62 (1): 55-61. July 2013

Genomic approach to identify factors that drive the formation of three-dimensional structures by EA.hy926 endothelial cells.
Ma, X., Wehland, M., Schulz, H., Saar, K., Hübner, N., Infanger, M., Bauer, J. and Grimm, D.
PLoS ONE 8 (5): e64402. 10 May 2013

Comparative transcriptional profiling of the axolotl limb identifies a tripartite regeneration-specific gene program.
Knapp, D., Schulz, H., Rascon, C.A., Volkmer, M., Scholz, J., Nacu, E., Le, M., Novozhilov, S., Tazaki, A., Protze, S., Jacob, T., Hubner, N., Habermann, B. and Tanaka, E.M.
PLoS ONE 8 (5): e61352. 1 May 2013

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Gong, M., Simaite, D., Kühnen, P., Heldmann, M., Spagnoli, F., Blankenstein, O., Hübner, N., Hussain, K. and Raile, K.
Hormone Research in Paediatrics 79 (4): 250-256. May 2013

Overexpression of full-length centrobin rescues limb malformation but not male fertility of the hypodactylous (hd) rats.
Liška, F., Gosele, C., Popova, E., Chylíková, B., Krenová, D., Křen, V., Bader, M., Tres, L.L., Hubner, N. and Kierszenbaum, A.L.
PLoS ONE 8 (4): e60859. 8 April 2013

Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.
Langley, S.R., Bottolo, L., Kunes, J., Zicha, J., Zidek, V., Hubner, N., Cook, S.A., Pravenec, M., Aitman, T.J. and Petretto, E.
Cardiovascular Research 97 (4): 653-665. 15 March 2013

Development and application of a DNA microarray-based yeast two-hybrid system.
Suter, B., Fontaine, J.F., Yildirimman, R., Raskó, T., Schaefer, M.H., Rasche, A., Porras, P., Vázquez-Álvarez, B.M., Russ, J., Rau, K., Foulle, R., Zenkner, M., Saar, K., Herwig, R., Andrade-Navarro, M.A. and Wanker, E.E.
Nucleic Acids Research 41 (3): 1496-507. 1 February 2013

Borna disease virus-induced neuronal degeneration dependent on host genetic background and prevented by soluble factors.
Wu, Y.J., Schulz, H., Lin, C.C., Saar, K., Patone, G., Fischer, H., Hübner, N., Heimrich, B. and Schwemmle, M.
Proceedings of the National Academy of Sciences of the United States of America 110 (5): 1899-1904. 29 January 2013

Insights into negative regulation by the glucocorticoid receptor from genome-wide profiling of inflammatory cistromes.
Uhlenhaut, N.H., Barish, G.D., Yu, R.T., Downes, M., Karunasiri, M., Liddle, C., Schwalie, P., Hübner, N. and Evans, R.M.
Molecular Cell 49 (1): 158-171. 10 January 2013

Activation of the PTHRP/adenylate cyclase pathway promotes differentiation of rat XEN cells into parietal endoderm, whereas Wnt/β-catenin signaling promotes differentiation into visceral endoderm.
Chuykin, I., Schulz, H., Guan, K. and Bader, M.
Journal of Cell Science 126 (Pt 1): 128-138. 1 January 2013

Increased proliferative cells in the medullary thick ascending limb of the loop of henle in the dahl salt-sensitive rat.
Yang, C., Stingo, F.C., Ahn, K.W., Liu, P., Vannucci, M., Laud, P.W., Skelton, M., O’Connor, P., Kurth, T., Ryan, R.P., Moreno, C., Tsaih, S.W., Patone, G., Hummel, O., Jacob, H.J., Liang, M. and Cowley, A.W.
Hypertension 61 (1): 208-215. January 2013

2012

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Steffens, M., Leu, C., Ruppert, A.K., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La Neve, A., Crichiutti, G., de Kovel, C.G.F., Kasteleijn-Nolst Trenite, D., de Haan, G.J., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y.G., Becker, F., Lerche, H., Steinhoff, B.J., Kleefuss-Lie, A.A., Kunz, W.S., Surges, R., Elger, C.E., Muhle, H., von Spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Moller, R.S., Hjalgrim, H., Dibbens, L.M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I.E., Berkovic, S.F., Everett, K.V., Gardiner, M.R., Marini, C., Guerrini, R., Lehesjoki, A.E., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J.M., Reif, P.S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C.J., Suls, A., Smets, K., De Jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D.A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H.E., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T, Wienker, T.F., Hempelmann, A., Schulz, H., Rueschendorf, F., Leber, M., Pauck, S.M., Trucks, H., Toliat, M.R., Nuernberg, P., Avanzini, G., Koeleman, B.P. and Sander, T.
Human Molecular Genetics 21 (24): 5359-5372. 15 December 2012

Gravity-sensitive signaling drives 3-dimensional formation of multicellular thyroid cancer spheroids.
Grosse, J., Wehland, M., Pietsch, J., Schulz, H., Saar, K., Huebner, N., Eilles, C., Bauer, J., Abou-El-Ardat, K., Baatout, S., Ma, X., Infanger, M., Hemmersbach, R. and Grimm, D.
FASEB Journal 26 (12): 5124-5140. December 2012

A misplaced lncRNA causes brachydactyly in humans.
Maass, P.G., Rump, A., Schulz, H., Stricker, S., Schulze, L., Platzer, K., Aydin, A., Tinschert, S., Goldring, M.B., Luft, F.C. and Bähring, S.
Journal of Clinical Investigation 122 (11): 3990-4002. 1 November 2012

MWF rats with spontaneous albuminuria inherit a reduced efficiency of nephron induction during early nephrogenesis in comparison to SHRs.
Schulte, L., Schulz, A., Unland, J., Schulz, H., Hubner, N., Schmidt-Ott, K.M. and Kreutz, R.
Journal of Hypertension 30 (10): 2031-2038. October 2012

Gene expression signatures defining fundamental biological processes in pluripotent, early, and late differentiated embryonic stem cells.
Gaspar, J.A., Doss, M.X., Winkler, J., Wagh, V., Hescheler, J., Kolde, R., Vilo, J., Schulz, H. and Sachinidis, A.
Stem Cells and Development 21 (13): 2471-2484. 1 September 2012

Wnt/beta-catenin and Bmp signals control distinct sets of transcription factors in cardiac progenitor cells.
Klaus, A., Mueller, M., Schulz, H., Saga, Y., Martin, J.F. and Birchmeier, W.
Proceedings of the National Academy of Sciences of the United States of America 109 (27): 10921-10926. 3 July 2012

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
Preising, M.N., Hausotter-Will, N., Solbach, M.C., Friedburg, C., Rueschendorf, F. and Lorenz, B.
Investigative Ophthalmology & Visual Science 53 (7): 3463-3472. 8 June 2012

The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.
Dizier, M.H., Margaritte-Jeannin, P., Madore, A.M., Esparza-Gordillo, J., Moffatt, M.F., Corda, E., Monier, F., Guilloud-Bataille, M., Franke, A., Weidinger, S., Annesi-Maesano, I., Just, J., Pin, I., Kauffmann, F., Cookson, W., Lee, Y.A., Laprise, C., Lathrop, M., Bouzigon, E. and Demenais, F.
Journal of Allergy and Clinical Immunology 129 (6): 1547-1553. June 2012

A genetic basis for mechanosensory traits in humans.
Frenzel, H., Bohlender, J., Pinsker, K., Wohlleben, B., Tank, J., Lechner, S.G., Schiska, D., Jaijo, T., Rueschendorf, F., Saar, K., Jordan, J., Millan, J.M., Gross, M. and Lewin, G.R.
PLoS Biology 10 (5): e1001318. 1 May 2012

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W., Schafer, S., Greaser, M.L., Radke, M.H., Liss, M., Govindarajan, T., Maatz, H., Schulz, H., Lincoln, S.E., Parrish, A.M., Dauksaite, V., Vakeel, P., Klaassen, S., Gerull, B., Thierfelder, L., Regitz-Zagrosek, V., Hacker, T.A., Saupe, K.W., Dec, G.W., Ellinor, P.T., MacRae, C.A., Spallek, B., Fischer, R., Perrot, A., Ozcelik, C., Saar, K., Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain.
Caglayan, S., Bauerfeind, A., Schmidt, V., Carlo, A.S., Prabakaran, T., Huebner, N. and Willnow, T.E.
Archives of Neurology 69 (3): 373-379. March 2012

Specific gene signatures and pathways in mesodermal cells and their derivatives derived from embryonic stem cells.
Doss, M.X., Gaspar, J.A., Winkler, J., Hescheler, J., Schulz, H. and Sachinidis, A.
Stem Cell Reviews and Reports 8 (1): 43-54. March 2012

Combined RNAi and localization for functionally dissecting long noncoding RNAs.
Chakraborty, D., Kappei, D., Theis, M., Nitzsche, A., Ding, L., Paszkowski-Rogacz, M., Surendranath, V., Berger, N., Schulz, H., Saar, K., Hubner, N. and Buchholz, F.
Nature Methods 9 (4): 360-362. 12 February 2012

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann, M., Giunta, C., Krabichler, B., Rueschendorf, F., Zoppi, N., Colombi, M., Bittner, R.E., Quijano-Roy, S., Muntoni, F., Cirak, S., Schreiber, G., Zou, Y., Hu, Y., Romero, N.B., Carlier, R.Y., Amberger, A., Deutschmann, A., Straub, V., Rohrbach, M., Steinmann, B., Rostasy, K., Karall, D., Boennemann, C.G., Zschocke, J. and Fauth, C.
American Journal of Human Genetics 90 (2): 201-216. 10 February 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Leu, C., de Kovel, C.G.F., Zara, F., Striano, P., Pezzella, M., Robbiano, A., Bianchi, A., Bisulli, F., Coppola, A., Giallonardo, A.T., Beccaria, F., Trenite, D.K., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y.G., Becker, F., Lerche, H., Kleefuss-Lie, A.A., Hallman, K., Kunz, W.S., Elger, C.E., Muhle, H., Stephani, U., Moller, R.S., Hjalgrim, H., Mullen, S., Scheffer, I.E., Berkovic, S.F., Everett, K.V., Gardiner, M.R., Marini, C., Guerrini, R., Lehesjoki, A.E., Siren, A., Nabbout, R., Baulac, S., Leguern, E., Serratosa, J.M., Rosenow, F., Feucht, M., Unterberger, I., Covanis, A., Suls, A., Weckhuysen, S., Kaneva, R., Caglayan, H., Turkdogan, D., Baykan, B., Bebek, N., Ozbek, U., Hempelmann, A., Schulz, H., Rueschendorf, F., Trucks, H., Nuernberg, P., Avanzini, G., Koeleman, B.P.C. and Sander, T.
Epilepsia 53 (2): 308-318. February 2012

HOXB4 can enhance the differentiation of embryonic stem cells by modulating the haematopoietic niche.
Jackson, M., Axton, R.A., Taylor, A.H., Wilson, J.A., Gordon-Keylock, S.A., Kokkaliaris, K., Brickman, J.M., Schulz, H., Hummel, O., Hubner, N. and Forrester, L.M.
Stem Cells 30 (2): 150-160. February 2012

Short-term weightlessness produced by parabolic flight maneuvers altered gene expression patterns in human endothelial cells.
Grosse, J., Wehland, M., Pietsch, J., Ma, X., Ulbrich, C., Schulz, H., Saar, K., Huebner, N., Hauslage, J., Hemmersbach, R., Braun, M., van Loon, J., Vagt, N., Infanger, M., Eilles, C., Egli, M., Richter, P., Baltz, T., Einspanier, R., Sharbati, S. and Grimm, D.
FASEB Journal 26 (2): 639-655. February 2012

Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis.
Knuppel, S., Esparza-Gordillo, J., Marenholz, I., Holzhutter, H., Bauerfeind, A., Ruether, A., Weidinger, S., Lee, Y.A. and Rohde, K.
BMC Medical Genetics 13 (1): 8. 27 January 2012

2011

Integrated genomic approaches to identification of candidate genes underlying metabolic and cardiovascular phenotypes in the spontaneously hypertensive rat.
Morrissey, C., Grieve, I.C., Heinig, M., Atanur, S., Petretto, E., Pravenec, M., Hubner, N. and Aitman, T.J.
Physiological Genomics 43 (21): 1207-1218. 7 November 2011

Inflammatory skin and bowel disease linked to ADAM17 deletion.
Blaydon, D.C., Biancheri, P., Di, W.L., Plagnol, V., Cabral, R.M., Brooke, M.A., van Heel, D.A., Ruschendorf, F., Toynbee, M., Walne, A., O'Toole, E.A., Martin, J.E., Lindley, K., Vulliamy, T., Abrams, D.J., MacDonald, T.T., Harper, J.I. and Kelsell, D.P.
New England Journal of Medicine 365 (16): 1502-1508. 20 October 2011

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
McDermott-Roe, C., Ye, J., Ahmed, R., Sun, X.M., Serafin, A., Ware, J., Bottolo, L., Muckett, P., Canas, X., Zhang, J., Rowe, G.C., Buchan, R., Lu, H., Braithwaite, A., Mancini, M., Hauton, D., Marti, R., Garcia-Arumi, E., Hubner, N., Jacob, H., Serikawa, T., Zidek, V., Papousek, F., Kolar, F., Cardona, M., Ruiz-Meana, M., Garcia-Dorado, D., Comella, J.X., Felkin, L.E., Barton, P.J., Arany, Z., Pravenec, M., Petretto, E., Sanchis, D. and Cook, S.A.
Nature 478 (7367): 114-118. 6 October 2011

Differential gene regulation under altered gravity conditions in follicular thyroid cancer cells: relationship between the extracellular matrix and the cytoskeleton.
Ulbrich, C., Pietsch, J., Grosse, J., Wehland, M., Schulz, H., Saar, K., Huebner, N., Hauslage, J., Hemmersbach, R., Braun, M., van Loon, J., Vagt, N., Egli, M., Richter, P., Einspanier, R., Sharbati, S., Baltz, T., Infanger, M., Ma, X. and Grimm, D.
Cellular Physiology and Biochemistry 28 (2): 185-198. 16 August 2011

Association screening in the epidermal differentiation complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
Marenholz, I., Rivera, V.A., Esparza-Gordillo, J., Bauerfeind, A., Lee-Kirsch, M.A., Ciechanowicz, A., Kurek, M., Piskackova, T., Macek, M. and Lee, Y.A.
Journal of Investigative Dermatology 131 (8): 1644-1649. August 2011

Characterization of the genomic structure and function of regions influencing renin and angiogenesis in the SS rat.
Stodola, T.J., de Resende, M.M., Sarkis, A.B., Didier, D.N., Jacob, H.J., Huebner, N., Hummel, O., Saar, K., Moreno, C. and Greene, A.S.
Physiological Genomics 43 (13): 808-817. 14 July 2011

Angiotensin II type 1 receptor antibodies and increased angiotensin II sensitivity in pregnant rats.
Wenzel, K., Rajakumar, A., Haase, H., Geusens, N., Hubner, N., Schulz, H., Brewer, J., Roberts, L., Hubel, C.A., Herse, F., Hering, L., Qadri, F., Lindschau, C., Wallukat, G., Pijnenborg, R., Heidecke, H., Riemekasten, G., Luft, F.C., Muller, D.N., Lamarca, B. and Dechend, R.
Hypertension 58 (1): 77-84. July 2011

The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever.
Marenholz, I., Bauerfeind, A., Esparza-Gordillo, J., Kerscher, T., Granell, R., Nickel, R., Lau, S., Henderson, J. and Lee, Y.A.
Human Molecular Genetics 20 (12): 2443-2449. 15 June 2011

RAD21 cooperates with pluripotency transcription factors in the maintenance of embryonic stem cell identity.
Nitzsche, A., Paszkowski-Rogacz, M., Matarese, F., Janssen-Megens, E.M., Hubner, N.C., Schulz, H., de Vries, I., Ding, L., Huebner, N., Mann, M., Stunnenberg, H.G. and Buchholz, F.
PLoS ONE 6 (5): e19470. 12 May 2011

Redox regulation of soluble epoxide hydrolase by 15-deoxy-Δ-prostaglandin J2 controls coronary hypoxic vasodilation.
Charles, R.L., Burgoyne, J.R., Mayr, M., Weldon, S.M., Hubner, N., Dong, H., Morisseau, C., Hammock, B.D., Landar, A.L. and Eaton, P.
Circulation Research 108 (3): 324-334. 4 February 2011

2010

Geno-transcriptomic dissection of proteinuria in the uninephrectomized rat uncovers a molecular complexity with sexual dimorphism.
Yagil, Y., Hessner, M.J., Schulz, H., Gosele, C., Lebdev, L., Barkalifa, R., Sapojnikov, M., Huebner, N. and Yagil, C.
Physiological Genomics 42A (4): 301-316. 29 November 2010

Childhood hypertension in autosomal-dominant hypertension with brachydactyly.
Toka, O., Maass, P.G., Aydin, A., Toka, H., Huebner, N., Rueschendorf, F., Gong, M., Luft, F.C. and Bähring, S.
Hypertension 56 (5): 988-994. November 2010

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
Heinig, M., Petretto, E., Wallace, C., Bottolo, L., Rotival, M., Lu, H., Li, Y., Sarwar, R., Langley, S.R., Bauerfeind, A., Hummel, O., Lee, Y.A., Paskas, S., Rintisch, C., Saar, K., Cooper, J., Buchan, R., Gray, E.E., Cyster, J.G., Braund, P., Gracey, J., Krishnan, U., Moore, J.S., Nelson, C.P., Pollard, H., Attwood, T., Crisp-Hihn, A., Foad, N., Jolley, J., Lloyd-Jones, H., Muir, D., Murray, E., O'Leary, K., Rankin, A., Sambrook, J., Godfroy, T., Brocheton, J., Proust, C., Schmitz, G., Heimerl, S., Lugauer, I., Belz, S., Gulde, S., Linsel-Nitschke, P., Sager, H., Schroeder, L., Lundmark, P., Syvannen, A.C., Neudert, J., Scholz, M., Deloukas, P., Gray, E., Gwilliams, R., Niblett, D., Erdmann, J., Hengstenberg, C., Maouche, S., Ouwehand, W.H., Rice, C.M., Samani, N.J., Schunkert, H., Goodall, A.H., Schulz, H., Roider, H.G., Vingron, M., Blankenberg, S., Muenzel, T., Zeller, T., Szymczak, S., Ziegler, A., Tiret, L., Smyth, D.J., Pravenec, M., Aitman, T.J., Cambien, F., Clayton, D., Todd, J.A., Huebner, N. and Cook, S.A.
Nature 467 (7314): 460-464. 23 September 2010

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous iranian family.
Reutter, H., Rueschendorf, F., Mattheisen, M., Draaken, M., Bartels, E., Huebner, N., Hoffmann, P., Payabvash, S., Saar, K., Noethen, M.M., Kajbafzadeh, A.M. and Ludwig, M.
Birth Defects Research. Part A, Clinical and Molecular Teratology 88 (9): 757-761. September 2010

The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo.
Christ, A., Terryn, S., Schmidt, V., Christensen, E.I., Huska, M.R., Andrade-Navarro, M.A., Huebner, N., Devuyst, O., Hammes, A. and Willnow, T.E.
Kidney International 78 (5): 473-477. September 2010

Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values.
Gong, M., Rueschendorf, F., Marx, P., Schulz, H., Kraft, H.G., Huebner, N. and Koennecke, H.C.
Journal of Neurology 257 (8): 1240-1245. August 2010

Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics.
Reese, J., Kraschewski, A., Anghelescu, I., Winterer, G., Schmidt, L.G., Gallinat, J., Rueschendorf, F., Rommelspacher, H. and Wernicke, C.
Psychiatric Genetics 20 (4): 140-152. August 2010

Human cytomegalovirus increases HUVEC sensitivity to thrombin and modulates expression of thrombin receptors.
Popovic, M., Paskas, S., Zivkovic, M., Burysek, L. and Laumonnier, Y.
Journal of Thrombosis and Thrombolysis 30 (2): 164-171. August 2010

Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat.
Jirout, M.L., Friese, R.S., Mahapatra, N.R., Mahata, M., Taupenot, L., Mahata, S.K., Kren, V., Zidek, V., Fischer, J., Maatz, H., Ziegler, M.G., Pravenec, M., Huebner, N., Aitman, T.J., Schork, N.J. and O'Connor, D.T.
Human Molecular Genetics 19 (13): 2567-2580. 1 July 2010

The genome sequence of the spontaneously hypertensive rat: analysis and functional significance.
Atanur, S.S., Birol, I., Guryev, V., Hirst, M., Hummel, O., Morrissey, C., Behmoaras, J., Fernandez-Suarez, X.M., Johnson, M.D., McLaren, W.M., Patone, G., Petretto, E., Plessy, C., Rockland, K.S., Rockland, C., Saar, K., Zhao, Y., Carninci, P., Flicek, P., Kurtz, T., Cuppen, E., Pravenec, M., Huebner, N., Jones, S.J., Birney, E. and Aitman, T.J.
Genome Research 20 (6): 791-803. June 2010

Genetics and beyond - the transcriptome of human monocytes and disease susceptibility.
Zeller, T., Wild, P., Szymczak, S., Rotival, M., Schillert, A., Castagne, R., Maouche, S., Germain, M., Lackner, K., Rossmann, H., Eleftheriadis, M., Sinning, C.R., Schnabel, R.B., Lubos, E., Mennerich, D., Rust, W., Perret, C., Proust, C., Nicaud, V., Loscalzo, J., Huebner, N., Tregouet, D., Muenzel, T., Ziegler, A., Tiret, L., Blankenberg, S. and Cambien, F.
PLoS ONE 5 (5): e10693. 18 May 2010

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.
de Kovel, C.G., Pinto, D., Tauer, U., Lorenz, S., Muhle, H., Leu, C., Neubauer, B.A., Hempelmann, A., Callenbach, P.M., Scheffer, I.E., Berkovic, S.F., Rudolf, G., Striano, P., Siren, A., Baykan, B., Sander, T., Lindhout, D., Kasteleijn-Nolst Trenite, D.G., Stephani, U. and Koeleman, B.P.
Epilepsy Research 89 (2-3): 286-294. May 2010

New insights into the genetic control of gene expression using a Bayesian multi-tissue approach.
Petretto, E., Bottolo, L., Langley, S.R., Heinig, M., McDermott-Roe, C., Sarwar, R., Pravenec, M., Huebner, N., Aitman, T.J., Cook, S.A. and Richardson, S.
PLoS Computational Biology 6 (4): e1000737. 8 April 2010

Quantifying the effect of sequence variation on regulatory interactions.
Manke, T., Heinig, M. and Vingron, M.
Human Mutation 31 (4): 477-483. April 2010

Global transcriptomic analysis of murine embryonic stem cell-derived brachyury+ (T) cells.
Doss, M.X., Wagh, V., Schulz, H., Kull, M., Kolde, R., Pfannkuche, K., Nolden, T., Himmelbauer, H., Vilo, J., Hescheler, J. and Sachinidis, A.
Genes to Cells 15 (3): 209-228. March 2010

alpha(1A)-adrenergic receptor-directed autoimmunity induces left ventricular damage and diastolic dysfunction in rats.
Wenzel, K., Wallukat, G., Qadri, F., Huebner, N., Schulz, H., Hummel, O., Herse, F., Heuser, A., Fischer, R., Heidecke, H., Luft, F.C., Mueller, D.N., Dietz, R. and Dechend, R.
PLoS ONE 5 (2): e9409. 24 February 2010

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease.
Joutel, A., Monet-Lepretre, M., Gosele, C., Baron-Menguy, C., Hammes, A., Schmidt, S., Lemaire-Carrette, B., Domenga, V., Schedl, A., Lacombe, P. and Huebner, N.
Journal of Clinical Investigation 120 (2): 433-445. 1 February 2010

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
Ratelade, J., Arrondel, C., Hamard, G., Garbay, S., Harvey, S., Biebuyck, N., Schulz, H., Hastie, N., Pontoglio, M., Gubler, M.C., Antignac, C. and Heidet, L.
Human Molecular Genetics 19 (1): 1-15. 1 January 2010

A novel active endogenous retrovirus family contributes to genome variability in rat inbred strains.
Wang, Y., Liska, F., Gosele, C., Sedova, L., Kren, V., Krenova, D., Ivics, Z., Huebner, N. and Izsvak, Z.
Genome Research 20 (1): 19-27. January 2010

Die primaere Durchbruchsstoerung (PFE) - klinische und molekulargenetische Analyse [Primary failure of eruption (PFE) - clinical and molecular genetics analysis].
Stellzig-Eisenhauer, A., Decker, E., Meyer-Marcotty, P., Rau, C., Fiebig, B.S., Kress, W., Saar, K., Rueschendorf, F., Huebner, N., Grimm, T., Witt, E. and Weber, B.H.
Journal of Orofacial Orthopedics 71 (1): 6-16. January 2010

Characterization of mouse embryonic stem cell differentiation into the pancreatic lineage in vitro by transcriptional profiling, quantitative RT-PCR and immunocytochemistry.
Rolletschek, A., Schroeder, I.S., Schulz, H., Hummel, O., Huebner, N. and Wobus, A.M.
International Journal of Developmental Biology 54 (1): 41-54. 2010

Impairment of sox9 expression in limb buds of rats homozygous for hypodactyly mutation.
Liska, F., Snajdr, P., Stricker, S., Goesele, C., Krenova, D., Mundlos, S. and Huebner, N.
Folia Biologica Prague 56 (2): 58-65. 2010

2009

Association of AHSG gene polymorphisms with fetuin-A plasma levels and cardiovascular diseases in the EPIC-Potsdam study.
Fisher, E., Stefan, N., Saar, K., Drogan, D., Schulze, M.B., Fritsche, A., Joost, H.G., Haering, H.U., Huebner, N., Boeing, H. and Weikert, C.
Circulation Cardiovascular Genetics 2 (6): 607-613. December 2009

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.
Liska, F., Goesele, C., Rivkin, E., Tres, L., Cardoso, M.C., Domaing, P., Krejci, E., Snajdr, P., Lee-Kirsch, M.A., de Rooij, D.G., Kren, V., Krenova, D., Kierszenbaum, A.L. and Huebner, N.
Biology of Reproduction 81 (6): 1196-1205. December 2009

Somitovasculin, a novel endothelial-specific transcript involved in the vasculature development.
Mariappan, D., Niemann, R., Gajewski, M., Winkler, J., Chen, S., Choorapoikayil, S., Bitzer, M., Schulz, H., Hescheler, J. and Sachinidis, A.
Arteriosclerosis Thrombosis and Vascular Biology 29 (11): 1823-1829. November 2009

Genetical genomic determinants of alcohol consumption in rats and humans.
Tabakoff, B., Saba, L., Printz, M., Flodman, P., Hodgkinson, C., Goldman, D., Koob, G., Richardson, H.N., Kechris, K., Bell, R.L., Huebner, N., Heinig, M., Pravenec, M., Mangion, J., Legault, L., Dongier, M., Conigrave, K.M., Whitfield, J.B., Saunders, J., Grant, B. and Hoffman, P.L.
BMC Biology 7 (1): 70. 27 October 2009

Improvement of fractional flow reserve and collateral flow by treatment with external counterpulsation (Art.Net.-2 Trial).
Buschmann, E.E., Utz, W., Pagonas, N., Schulz-Menger, J., Busjahn, A., Monti, J., Maerz, W., le Noble, F., Thierfelder, L., Dietz, R., Klauss, V., Gross, M. and Buschmann, I.R.
European Journal of Clinical Investigation 39 (10): 866-875. October 2009

The FunGenES database: a genomics resource for mouse embryonic stem cell differentiation.
Schulz, H., Kolde, R., Adler, P., Aksoy, I., Anastassiadis, K., Bader, M., Billon, N., Boeuf, H., Bourillot, P.Y., Buchholz, F., Dani, C., Doss, M.X., Forrester, L., Gitton, M., Henrique, D., Hescheler, J., Himmelbauer, H., Huebner, N., Karantzali, E., Kretsovali, A., Lubitz, S., Pradier, L., Rai, M., Reimand, J., Rolletschek, A., Sachinidis, A., Savatier, P., Stewart, F., Storm, M.P., Trouillas, M., Vilo, J., Welham, M.J., Winkler, J., Wobus, A.M. and Hatzopoulos, A.K.
PLoS ONE 4 (9): e6804. 3 September 2009

CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., Dullinger, J.S., Rau, B., Haverkamp, F., Beyenburg, S., Schulz, H., Janz, D., Giese, B., Muller-Newen, G., Propping, P., Elger, C.E., Fahlke, C. and Lerche, H.
Nature Genetics 41 (9): 954-955. September 2009

IL13 variants are associated with total serum IgE and early sensitization to food allergens in children with atopic dermatitis.
Zitnik, S.E., Rueschendorf, F., Mueller, S., Sengler, C., Lee, Y.A., Griffioen, R.W., Meglio, P., Wahn, U., Witt, H. and Nickel, R.
Pediatric Allergy and Immunology 20 (6): 551-555. September 2009

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome.
Mollet, G., Ratelade, J., Boyer, O., Muda, A.O., Morisset, L., Lavin, T.A., Kitzis, D., Dallman, M.J., Bugeon, L., Huebner, N., Gubler, M.C., Antignac, C. and Esquive, E.L.
Journal of the American Society of Nephrology 20 (10): 2181-2189. 27 August 2009

Novel STAT3 target genes exert distinct roles in the inhibition of mesoderm and endoderm differentiation in cooperation with Nanog.
Bourillot, P.Y., Aksoy, I., Schreiber, V., Wianny, F., Schulz, H., Hummel, O., Huebner, N. and Savatier, P.
Stem Cells 27 (8): 1760-1771. August 2009

Neural differentiation of embryonic stem cells in vitro: A road map to neurogenesis in the embryo.
Abranches, E., Silva, M., Pradier, L., Schulz, H., Hummel, O., Henrique, D. and Bekman, E.
PLoS ONE 4 (7): e6286. 21 July 2009

Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1.
Vogel, H., Nestler, M., Rueschendorf, F., Block, M.D., Tischer, S., Kluge, R., Schurmann, A., Joost, H.G. and Scherneck, S.
Physiological Genomics 38 (2): 226-232. 9 July 2009

COMT Val 158 Met polymorphism is associated with cognitive flexibility in a signal discrimination task in schizophrenia.
Neuhaus, A.H., Opgen-Rhein, C., Urbanek, C., Hahn, E., Ta, T.M., Seidelsohn, M., Strathmann, S., Kley, F., Wieseke, N., Sander, T. and Dettling, M.
Pharmacopsychiatry 42 (4): 141-144. July 2009

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke, M., Diekmann, S., Ohlenbusch, A., Kaiser, J., Engelbrecht, V., Kohlschuetter, A., Kraetzner, R., Madruga-Garrido, M., Mayer, M., Opitz, L., Rodriguez, D., Rueschendorf, F., Schumacher, J., Thiele, H., Thoms, S., Steinfeld, R., Nuernberg, P. and Gaertner, J.
Nature Genetics 41 (7): 773-775. July 2009

A genome-scale RNAi screen for Oct4 modulators defines a role of the Paf1 complex for embryonic stem cell identity.
Ding, L., Paszkowski-Rogacz, M., Nitzsche, A., Slabicki, M.M., Heninger, A.K., Vries, I.D., Kittler, R., Junqueira, M., Shevchenko, A., Schulz, H., Huebner, N., Doss, M.X., Sachinidis, A., Hescheler, J., Iacone, R., Anastassiadis, K., Stewart, A.F., Pisabarro, M.T., Caldarelli, A., Poser, I., Theis, M. and Buchholz, F.
Cell Stem Cell 4 (5): 403-415. 8 May 2009

A common variant on chromosome 11q13 is associated with atopic dermatitis.
Esparza-Gordillo, J., Weidinger, S., Foelster-Holst, R., Bauerfeind, A., Rueschendorf, F., Patone, G., Rohde, K., Marenholz, I., Schulz, F., Kerscher, T., Huebner, N., Wahn, U., Schreiber, S., Franke, A., Vogler, R., Heath, S., Baurecht, H., Novak, N., Rodriguez, E., Illig, T., Lee-Kirsch, M.A., Ciechanowicz, A., Kurek, M., Piskackova, T., Macek, M., Lee, Y.A. and Ruether, A.
Nature Genetics 41 (5): 596-601. May 2009

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany*.
Hoffmann, K., Planitz, C., Rueschendorf, F., Mueller-Myhsok, B., Stassen, H.H., Lucke, B., Mattheisen, M., Stumvoll, M., Bochmann, R., Zschornack, M., Wienker, T.F., Nuernberg, P., Reis, A., Luft, F.C. and Lindner, T.H.
Journal of Hypertension 27 (5): 983-990. May 2009

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
Huck, K., Feyen, O., Niehues, T., Rueschendorf, F., Huebner, N., Laws, H.J., Telieps, T., Knapp, S., Wacker, H.H., Meindl, A., Jumaa, H. and Borkhardt, A.
Journal of Clinical Investigation 119 (5): 1350-1358. May 2009

ICOS-gene variants are not associated with atopic disease susceptibility in European children.
Beier, K.C., Humberdros, S., Witt, H., Illi, S., Rueschendorf, F., Nickel, R., Lee, Y.A., Lau, S., Wahn, U. and Hamelmann, E.
Pediatric Allergy and Immunology 20 (3): 242-245. May 2009

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
Lebrun, A.H., Storch, S., Rueschendorf, F., Schmiedt, M.L., Kyttaelae, A., Mole, S.E., Kitzmueller, C., Saar, K., Mewasingh, L.D., Boda, V., Kohlschuetter, A., Ullrich, K., Braulke, T. and Schulz, A.
Human Mutation 30 (5): E651-E661. May 2009

An interaction between filaggrin mutations and early food sensitization improves the prediction of childhood asthma.
Marenholz, I., Kerscher, T., Bauerfeind, A., Esparza-Gordillo, J., Nickel, R., Keil, T., Lau, S., Rohde, K., Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 123 (4): 911-916. April 2009

Characterization of the phosphoinositide 3-kinase-dependent transcriptome in murine embryonic stem cells: identification of novel regulators of pluripotency.
Storm, M.P., Kumpfmueller, B., Thompson, B., Kolde, R., Vilo, J., Hummel, O., Schulz, H. and Welham, M.J.
Stem Cells 27 (4): 764-775. April 2009