Browse by Research Team

Allergy

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T., Altmueller, J., Strauch, K., Rueschendorf, F., Heinzmann, A., Moffatt, M.F., Cookson, W.O.C.M., Inacio, F., Nuernberg, P., Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

American Journal of Human Genetics

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

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

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

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian, P., Mueller, T., Krabichler, B., Schranz, M., Becker, C., Rueschendorf, F., Nuernberg, P., Rossier, B., Vujic, M., Booth, I.W., Holmberg, C., Wijmenga, C., Grigelioniene, G., Kneepkens, C.M., Rosipal, S., Mistrik, M., Kappler, M., Michaud, L., Doczy, L.C., Siu, V.M., Krantz, M., Zoller, H., Utermann, G. and Janecke, A.R.
American Journal of Human Genetics 84 (2): 188-196. 13 February 2009

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Decker, E., Stellzig-Eisenhauer, A., Fiebig, B.S., Rau, C., Kress, W., Saar, K., Rueschendorf, F., Huebner, N., Grimm, T. and Weber, B.H.
American Journal of Human Genetics 83 (6): 781-786. 12 December 2008

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians.
Kayser, M., Lao, O., Saar, K., Brauer, S., Wang, X., Nuernberg, P., Trent, R.J. and Stoneking, M.
American Journal of Human Genetics 82 (1): 194-198. 10 January 2008

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Leach, N.T., Sun, Y., Michaud, S., Zheng, Y., Ligon, K.L., Ligon, A.H., Sander, T., Korf, B.R., Lu, W., Harris, D.J., Gusella, J.F., Maas, R.L., Quade, B.J., Cole, A.J., Kelz, M.B. and Morton, C.C.
American Journal of Human Genetics 80 (4): 792-799. April 2007

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
Lee-Kirsch, M.A., Gong, M., Schulz, H., Rüschendorf, F., Stein, A., Pfeiffer, C., Ballarini, A., Gahr, M., Hubner, N. and Linne, M.
American Journal of Human Genetics 79 (4): 731-737. October 2006

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Thiel, C.T., Horn, D., Zabel, B., Ekici, A.B., Salinas, K., Gebhart, E., Rueschendorf, F., Sticht, H., Spranger, J., Mueller, D., Zweier, C., Schmitt, M.E., Reis, A. and Rauch, A.
American Journal of Human Genetics 77 (5): 795-806. 1 November 2005

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B., Schuelke, M., Rueschendorf, F., Ruf, N., Kaindl, A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloglu, H., Nuernberg, P., Huebner, C., Weschke, B. and Gaertner, J.
American Journal of Human Genetics 75 (2): 251-260. August 2004

American Journal of Medical Genetics A

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Rauch, A., Hoyer, J., Guth, S., Zweier, C., Kraus, C., Becker, C., Zenker, M., Hueffmeier, U., Thiel, C., Rueschendorf, F., Nuernberg, P., Reis, A. and Trautmann, U.
American Journal of Medical Genetics A 140A (19): 2063-2074. 1 October 2006

American Journal of Medical Genetics B

Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
Lorenz, S., Heils, A., Kasper, J.M. and Sander, T.
American Journal of Medical Genetics B 144B (1): 10-13. 5 January 2007

Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder.
Lohoff, F.W., Sander, T., Ferraro, T.N., Dahl, J.P., Gallinat, J. and Berrettini, W.H.
American Journal of Medical Genetics B 139 (1): 51-53. 5 November 2005

American Journal of Respiratory and Critical Care Medicine

Genomewide linkage analysis identifies novel genetic loci for lung function in mice.
Reinhard, C., Meyer, B., Fuchs, H., Stoeger, T., Eder, G., Rueschendorf, F., Heyder, J., Nuernberg, P., Hrabe de Angelis, M. and Schulz, H.
American Journal of Respiratory and Critical Care Medicine 171 : 880-888. 7 January 2005

Annals of Neurology

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.
Tauer, U., Lorenz, S., Lenzen, K.P., Heils, A., Muhle, H., Gresch, M., Neubauer, B.A., Waltz, S., Rudolf, G., Mattheisen, M., Strauch, K., Schmitz, B., Stephani, U. and Sander, T.
Annals of Neurology 57 (6): 866-873. 1 January 2005

Archives of Biological Sciences

In HCMV-exposed HUVEC, P52/RelB regulatory factors mediate activation of the human PAR1 gene promoter.
Popovic, M., Paskas, S., Zivkovic, M., Duric-Delic, T., Stankovic, A. and Burysek, L.
Archives of Biological Sciences 61 (4): 613-618. 2009

Archives of Neurology

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

Arteriosclerosis Thrombosis and Vascular Biology

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

Audiology & Neuro-Otology

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Todt, I., Hennies, H.C., Kuester, W., Smolle, J., Rademacher, G., Mutze, S., Basta, D., Eisenschenk, A. and Ernst, A.
Audiology & Neuro-Otology 11 (4): 242-248. June 2006

BIOspektrum

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

BMC Bioinformatics

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

BMC Biology

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

BMC Genetics

Linkage analysis of alcohol dependence using MOD scores.
Strauch, K., Fuerst, R., Rueschendorf, F., Windemuth, C., Dietter, J., Flaquer, A., Baur, M.P. and Wienker, T.F.
BMC Genetics 6 (Suppl 1): S162. 30 December 2005

BMC Genomics

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

Three LIF-dependent signatures and gene clusters with atypical expression profiles, identified by transcriptome studies in mouse ES cells and early derivatives.
Trouillas, M., Saucourt, C., Guillotin, B., Gauthereau, X., Ding, L., Buchholz, F., Doss, M.X., Sachinidis, A., Hescheler, J., Hummel, O., Huebner, N., Kolde, R., Vilo, J., Schultz, H. and Boeuf, H.
BMC Genomics 10 (1): 73. 9 February 2009

BMC Medical Genetics

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

BMC Molecular and Cell Biology

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

BMC Pulmonary Medicine

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J., Seidel, C., Lee, Y.A., Loesgen, S., Bulle, D., Friedrichs, F., Jellouschek, H., Kelber, J., Keller, A., Schuster, A., Silbermann, M., Wahlen, W., Wolff, P., Rueschendorf, F., Schlenvoigt, G., Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5 : 1. 5 January 2005

BMC Research Notes

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

BMJ Open

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

Basic Research in Cardiology

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

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

Biochemical and Biophysical Research Communications

Effect of Add1 gene transfer on blood pressure in reciprocal congenic strains of Milan rats.
Tripodi, G., Florio, M., Ferrandi, M., Modica, R., Zimdahl, H., Hubner, N., Ferrari, P. and Bianchi, G.
Biochemical and Biophysical Research Communications 324 (2): 562-568. 1 January 2004

Bioinformatics

Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE.
Dietter, J., Mattheisen, M., Fuerst, R., Rueschendorf, F., Wienker, T.F. and Strauch, K.
Bioinformatics 23 (1): 64-70. 1 January 2007

ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
Rueschendorf, F. and Nuernberg, P.
Bioinformatics 21 : 2123-2125. 1 January 2005

Biological Chemistry

Expression of the protein phosphatase 1 inhibitor KEPI is downregulated in breast cancer cell lines and tissues and involved in the regulation of the tumor suppressor EGR1 via the MEK-ERK pathway.
Wenzel, K., Daskalow, K., Herse, F., Seitz, S., Zacharias, U., Schenk, J.A., Schulz, H., Huebner, N., Micheel, B., Schlag, P.M., Osterziel, K.J., Ozcelik, C., Scherneck, S. and Jandrig, B.
Biological Chemistry 388 (5): 489-495. May 2007

Biology of Reproduction

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

Biomolecules

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

Birth Defects Research A

Genome-wide linkage scan for bladder exstrophy-epispadias complex.
Ludwig, M., Rueschendorf, F., Saar, K., Huebner, N., Siekmann, L., Boyadjiev, S.A. and Reutter, H.
Birth Defects Research A 85 (2): 174-8. February 2009

Birth Defects Research. Part A, Clinical and Molecular Teratology

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

Blood

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

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

British Journal of Dermatology

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, H.C.
British Journal of Dermatology 154 (1): 167-171. December 2006

Cardiovascular Research

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 120 (15): 1907-1923. November 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)

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

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

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

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

Cardiovascular Therapeutics

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

Cell

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

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

Role of endocytosis in cellular uptake of sex steroids.
Hammes, A., Andreassen, T.K., Spoelgen, R., Raila, J., Huebner, N., Schulz, H., Metzger, J., Schweigert, F.J., Luppa, P.B., Nykjaer, A. and Willnow, T.E.
Cell 122 (5): 751-762. 9 September 2005

Cell Communication and Signaling

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

Cell Reports

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

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

Cell Reports Medicine

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

Cell Stem Cell

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

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

Cellular Physiology and Biochemistry

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

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

Circulation

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

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

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

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

Evidence for primary genetic determination of heart rate regulation. Chromosomal mapping of a genetic locus in the rat.
Kreutz, R., Stock, P., Struk, B., Hübner, N., Ganten, D. and Lindpaintner, K.
Circulation 96 (4): 1078-1081. 19 August 1997

Genetic linkage of the ACE gene to plasma angiotensin-converting enzyme activity but not to blood pressure: a quantitative trait locus confers identical complex phenotypes in human and rat hypertension.
Kreutz, R., Hübner, N., Ganten, D. and Lindpaintner, K.
Circulation 92 (9): 2381-2384. 1 November 1995

Circulation Cardiovascular Genetics

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

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

Circulation Research

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

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

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

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

Identification of hypertension-related genes through an integrated genomic-transcriptomic approach.
Yagil, C., Huebner, N., Monti, J., Schulz, H., Sapojnikov, M., Luft, F.C., Ganten, D. and Yagil, Y.
Circulation Research 96 (6): 617-625. 1 January 2005

Clinical Research in Cardiology

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

Clinical Science

Molecular genetics of human hypertension.
Gong, M. and Hubner, N.
Clinical Science 110 (3): 315-326. March 2006

Clinical and Experimental Pharmacology and Physiology

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

Computational and Structural Biotechnology Journal

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

Current Protocols

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

Current Protocols in Human Genetics

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

Current Protocols in Molecular Biology

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

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

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

Development

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

Diabetes

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

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

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

Dysregulation of the peripheral and adipose tissue endocannabinoid system in human abdominal obesity.
Blueher, M., Engeli, S., Kloeting, N., Berndt, J., Fasshauer, M., Batkai, S., Pacher, P., Schoen, M.R., Jordan, J. and Stumvoll, M.
Diabetes 55 (11): 3053-3060. 1 November 2006

Disease Models & Mechanisms

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

EMBO Molecular Medicine

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

Encyclopedia of Molecular Pharmacology

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

Endocrine Research

Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
Metherell, L.A., Cooray, S., Huebner, A., Rueschendorf, F., Naville, D., Begeot, M. and Clark, A.J.L.
Endocrine Research 30 (4): 889-890. 1 January 2004

Epigenetics & Chromatin

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

Epilepsia

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

A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri, G.L., Walley, N.M., Soranzo, N., Mulley, J., Doherty, C.P., Kapoor, A., Depondt, C., Lynch, J.M., Scheffer, I.E., Heils, A., Gehrmann, A., Kinirons, P., Gandhi, S., Satishchandra, P., Wood, N.W., Anand, A., Sander, T., Berkovic, S.F., Delanty, N., Goldstein, D.B. and Sisodiya, S.M.
Epilepsia 48 (4): 706-712. April 2007

Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann, A., Taylor, K.P., Heils, A., Lorenz, S., Prud'homme, J.F., Nabbout, R., Dulac, O., Rudolf, G., Zara, F., Bianchi, A., Robinson, R., Gardiner, R.M., Covanis, A., Lindhout, D., Stephani, U., Elger, C.E., Weber, Y.G., Lerche, H., Nuernberg, P., Kron, K.L., Scheffer, I.E., Mulley, J.C., Berkovic, S.F. and Sander, T.
Epilepsia 47 (10): 1682-1690. October 2006

Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.
Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A. and Sander, T.
Epilepsia 46 (10): 1637-1641. 1 October 2005

Epilepsy Research

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

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Everett, K., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dooley, J., Dulac, O., Durner, M., Eeg-Olofsson, O., Feucht, M., Friis, M., Guerrini, R., Heils, A., Kjeldsen, M., Nabbout, R., Sander, T., Wirrell, E., McKeigue, P., Robinson, R., Taske, N. and Gardiner, M.
Epilepsy Research 75 (2-3): 145-153. July 2007

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.
Hempelmann, A., Cobilanschi, J., Heils, A., Muhle, H., Stephani, U., Weber, Y., Lerche, H. and Sander, T.
Epilepsy Research 74 (1): 28-32. April 2007

Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.
Hempelmann, A., Heils, A. and Sander, T.
Epilepsy Research 71 (2-3): 223-228. October 2006

Evaluation of CACNA1H in European patients with childhood absence epilepsy.
Chioza, B., Everett, K., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Durner, M., Eeg-Olofsson, O., Feucht, M., Friis, M., Heils, A., Kjeldsen, M., Larsson, K., Lehesjoki, A.E., Nabbout, R., Olsson, I., Sander, T., Siren, A., Robinson, R., Rees, M. and Gardiner, R.M.
Epilepsy Research 69 (2): 177-181. May 2006

A new EF-hand containing gene EFHC2 on Xp11.4: Tentative evidence for association with juvenile myoclonic epilepsy.
Gu, W., Sander, T., Heils, A., Lenzen, K.P. and Steinlein, O.K.
Epilepsy Research 66 (1-3): 91-98. 18 August 2005

Neonatal seizures with tonic clonic sequences and poor developmental outcome.
Schmitt, B., Wohlrab, G., Sander, T., Steinlein, O.K. and Hajnal, B.L.
Epilepsy Research 65 (3): 161-168. 1 July 2005

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A. and Sander, T.
Epilepsy Research 65 (1-2): 53-57. June 2005

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.
Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A., Hoefels, S., Lohoff, F.W., Schmitz, B. and Sander, T.
Epilepsy Research 63 (2): 113-118. 1 January 2005

European Heart Journal

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

European Journal of Clinical Investigation

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

European Journal of Dermatology

Investigation of the HLA-DRB1 locus in alopecia areata.
Entz, P., Blaumeiser, B., Betz, R.C., Lambert, J., Seymons, K., Eigelshoven, S., Hanneken, S., Kruse, R., Nuernberg, P., Nagy, M. and Noethen, M.M.
European Journal of Dermatology 16 (4): 363-367. July 2006

European Journal of Human Genetics

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

Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Everett, K.V., Chioza, B., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dulac, O., Eeg-Olofsson, O., Feucht, M., Friis, M., Goutieres, F., Guerrini, R., Heils, A., Kjeldsen, M., Lehesjoki, A.E., Makoff, A., Nabbout, R., Olsson, I., Sander, T., Siren, A., McKeigue, P., Robinson, R., Taske, N., Rees, M. and Gardiner, M.
European Journal of Human Genetics 15 (4): 463-472. April 2007

European Journal of Pediatrics

Generalized arterial calcification of infancy: two siblings with prolonged survival.
Ciana, G., Trappan, A., Bembi, B., Benettoni, A., Maso, G., Zennaro, F., Ruf, N., Schnabel, D. and Rutsch, F.
European Journal of Pediatrics 165 (4): 258-263. April 2006

European Neurology

Increased prevalence of microangiopathic brain lesions among siblings of patients with lacunar stroke. A prospective multicenter study.
Leistner, S., Huebner, N., Faulstich, A., Ludwig, D., Rees, M., Marx, P., Langer, B., Nikolova, A., Hartmann, A. and Koennecke, H.C.
European Neurology 59 (3-4): 143-147. February 2008

Experimental Cell Research

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

FASEB Journal

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

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

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

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

Folia Biologica Prague

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

Molecular analysis of the sex hormone-binding globulin gene in the rat hypodactylous mutation (Hd).
Liska, F., Gösele, C., Kren, V., Hübner, N. and Krenova, D.
Folia Biologica Prague 50 (2): 63-68. 1 January 2004

Frontiers in Cell and Developmental Biology

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

Frontiers in Human Neuroscience

Human aging magnifies genetic effects on executive functioning and working memory.
Nagel, I.E., Chicherio, C., Li, S.C., von Oertzen, T., Sander, T., Villringer, A., Heekeren, H.R., Baeckman, L. and Lindenberger, U.
Frontiers in Human Neuroscience 2 : 1. 3 May 2008

Frontiers in Neurology

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

Frontiers in Physiology

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

Gastroenterology

Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis.
Maerschenz, S., Endres, A.S., Brinckmann, A., Heise, T., Kristiansen, G., Nuernberg, P., Krueger, D.H., Guenther, S. and Meisel, H.
Gastroenterology 131 (3): 765-780. September 2006

General Physiology and Biophysics

S100A1 deficiency results in prolonged ventricular repolarization in response to sympathetic activation.
Ackermann, G.E., Domenighetti, A.A., Deten, A., Bonath, I., Marenholz, I., Pedrazzini, T., Erne, P. and Heizmann, C.W.
General Physiology and Biophysics 27 (2): 127-142. June 2008

Genes

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

Genes and Immunity

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Zheng, W., Rosenstiel, P., Huse, K., Sina, C., Valentonyte, R., Mah, N., Zeitlmann, L., Grosse, J., Ruf, N., Nuernberg, P., Costello, C.M., Onnie, C., Mathew, C., Platzer, M., Schreiber, S. and Hampe, J.
Genes and Immunity 7 : 11-18. January 2006

Genes to Cells

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

Transcriptional profiling of CD31(+) cells isolated from murine embryonic stem cells.
Mariappan, D., Winkler, J., Chen, S., Schulz, H., Hescheler, J. and Sachinidis, A.
Genes to Cells 14 (2): 243-260. February 2009

Genome Biology

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

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

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

Histone deacetylase inhibition accelerates the early events of stem cell differentiation: transcriptomic and epigenetic analysis.
Karantzali, E., Schulz, H., Hummel, O., Huebner, N., Hatzopoulos, A. and Kretsovali, A.
Genome Biology 9 (4): R65. 4 April 2008

Transcriptomic and phenotypic analysis of murine embryonic stem cell derived BMP2+ lineage cells: an insight into mesodermal patterning.
Doss, M.X., Chen, S., Winkler, J., Hippler-Altenburg, R., Odenthal, M., Wickenhauser, C., Balaraman, S., Schulz, H., Hummel, O., Huebner, N., Ghosh-Choudhury, N., Sotiriadou, I., Hescheler, J. and Sachinidis, A.
Genome Biology 8 (9): R184. 4 September 2007

Global transcriptome analysis of murine embryonic stem cell-derived cardiomyocytes.
Doss, M.X., Winkler, J., Chen, S., Hippler-Altenburg, R., Sotiriadou, I., Halbach, M., Pfannkuche, K., Liang, H., Schulz, H., Hummel, O., Huebner, N., Rottscheidt, R., Hescheler, J. and Sachinidis, A.
Genome Biology 8 (4): R56. 11 April 2007

Genome Medicine

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

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

Genome Research

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

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

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

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

Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome.
Krzywinski, M., Wallis, J., Gösele, C., Bosdet, I., Chiu, R., Graves, T., Hummel, O., Layman, D., Mathewson, C., Wye, N., Zhu, B., Albracht, D., Asano, J., Barber, S., Brown-John, M., Chan, S., Chand, S., Cloutier, A., Davito, J., Fjell, C., Gaige, T., Ganten, D., Girn, N., Guggenheimer, K., Himmelbauer, H., Kreitler, T., Leach, S., Lee, D., Lehrach, H., Mayo, M., Mead, K., Olson, T., Pandoh, P., Prabhu, A.L., Shin, H., Taenzer, S., Thompson, J., Tsai, M., Walker, J., Yang, G., Sekhon, M., Hillier, L., Zimdahl, H., Marziali, A., Osoegawa, K., Zhao, S., Siddiqui, A., de Jong, P.J., Warren, W., Mardis, E., McPherson, J.D., Wilson, R., Hübner, N., Jones, S., Marra, M. and Schein, J.
Genome Research 14 (4): 766-779. April 2004

Genomics Data

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

Gut

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

Headache

Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
von Brevern, M., Ta, N., Shankar, A., Wiste, A., Siegel, A., Radtke, A., Sander, T. and Escayg, A.
Headache 46 (7): 1136-1141. July 2006

Health and Quality of Life Outcomes

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

Hepatology

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt, D., Runz, H., Keitel, V., Fischer, C., Flechtenmacher, C., Wirtenberger, M., Weiss, K.H., Imparato, S., Braun, A., Hemminki, K., Stremmel, W., Rueschendorf, F., Stiehl, A., Kubitz, R., Burwinkel, B., Schirmacher, P., Knisely, A.S., Zschocke, J. and Sauer, P.
Hepatology 48 (4): 1157-1166. October 2008

Herz

Genetics in arterial hypertension - clinical and experimental aspects.
Hübner, N. and Ganten, D.
Herz 20 : 309-314. 1 January 1995

Hormone Research in Paediatrics

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

Human Genetics

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

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

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi, H., Motazacker, M.M., Garshasbi, M., Kahrizi, K., Tzschach, A., Chen, W., Behjati, F., Hadavi, V., Nieh, S.E., Abedini, S.S., Vazifehmand, R., Firouzabadi, S.G., Jamali, P., Falah, M., Seifati, S.M., Grueters, A., Lenzner, S., Jensen, L.R., Rueschendorf, F., Kuss, A.W. and Ropers, H.H.
Human Genetics 121 (1): 43-48. March 2007

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Wolf, M.T., Mucha, B.E., Hennies, H.C., Attanasio, M., Panther, F., Zalewski, I., Karle, S.M., Otto, E.A., Deltas, C.C., Fuchshuber, A. and Hildebrandt, F.
Human Genetics 119 (6): 649-658. July 2006

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi, M., Motazacker, M.M., Kahrizi, K., Behjati, F., Abedini, S.S., Nieh, S.E., Firouzabadi, S.G., Becker, C., Rueschendorf, F., Nuernberg, P., Tzschach, A., Vazifehmand, R., Erdogan, F., Ullmann, R., Lenzner, S., Kuss, A.W., Ropers, H.H. and Najmabadi, H.
Human Genetics 118 (6): 708-715. February 2006

Human Heredity

SNP-Based analysis of genetic substructure in the German population.
Steffens, M., Lamina, C., Illig, T., Bettecken, T., Vogler, R., Entz, P., Suk, E.K., Toliat, M.R., Klopp, N., Caliebe, A., Koenig, I.R., Koehler, K., Luedemann, J., Lacava, A.D., Fimmers, R., Lichtner, P., Ziegler, A., Wolf, A., Krawczak, M., Nuernberg, P., Hampe, J., Schreiber, S., Meitinger, T., Wichmann, H.E., Roeder, K., Wienker, T.F. and Baur, M.P.
Human Heredity 62 (1): 20-29. October 2006

Human Molecular Genetics

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

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

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

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

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

SNP genome scanning localises oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner ear disease and FADD in ocular coloboma.
Gregory-Evans, C.Y., Moosajee, M., Hodges, M.D., Mackay, D.S., Game, L., Vargesson, N., Bloch-Zupan, A., Rueschendorf, F., Santos-Pinto, L., Wackens, G. and Gregory-Evans, K.
Human Molecular Genetics 16 (20): 2482-2493. 15 October 2007

Association of attentional network function with exon 5 variations of the CHRNA4 gene.
Winterer, G., Musso, F., Konrad, A., Vucurevic, G., Stoeter, P., Sander, T. and Gallinat, J.
Human Molecular Genetics 16 (18): 2165-2174. 15 September 2007

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle, A., Wudy, S.A., Saar, K., Hagemann, S., Friedel, S., Scherag, A., Berthold, L.D., Alzen, G., Gortner, L., Blum, W.F., Hinney, A., Nuernberg, P., Schaefer, H. and Hebebrand, J.
Human Molecular Genetics 15 (18): 2772-2783. 15 September 2006

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Gong, M., Zhang, H.Y., Schulz, H., Lee, Y.A., Sun, K., Bähring, S., Luft, F.C., Nürnberg, P., Reis, A., Rohde, K., Ganten, D., Hui, R.T. and Hübner, N.
Human Molecular Genetics 12 (11): 1273-1277. 1 June 2003

Interaction between blood pressure quantitative trait loci in rats in which trait variation at chromosome 1 is conditional upon a specific allele at chromosome 10.
Monti, J., Plehm, R., Schulz, H., Ganten, D., Kreutz, R. and Hübner, N.
Human Molecular Genetics 12 (4): 435-439. 1 January 2003

Human Mutation

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

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

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

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

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Stadt, U.Z., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, H.C.
Human Mutation 27 (1): 62-68. January 2006

Hypertension

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

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

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

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

Functional characterization and transcriptome analysis of embryonic stem cell-derived contractile smooth muscle cells.
Potta, S.P., Liang, H., Pfannkuche, K., Winkler, J., Chen, S., Doss, M.X., Obernier, K., Kamisetti, N., Schulz, H., Huebner, N., Hescheler, J. and Sachinidis, A.
Hypertension 53 (2): 196-204. February 2009

Novel integrative approaches to the identification of candidate genes in hypertension.
Hubner, N., Yagil, C. and Yagil, Y.
Hypertension 47 (1): 1-5. January 2006

The role of Wnk4 in polygenic hypertension - A candidate gene analysis on rat chromosome 10.
Monti, J., Zimdahl, H., Schulz, H., Plehm, R., Ganten, D. and Hübner, N.
Hypertension 41 (4): 938-942. April 2003

Conserved synteny in rat and mouse for a blood pressure QTL on human chromosome 17.
Zimdahl, H., Kreitler, T., Gösele, C., Ganten, D. and Hübner, N.
Hypertension 39 (6): 1050-1052. 1 June 2002

Expression analysis using oligonucleotide microarrays in mice lacking bradykinin type 2 receptors.
Monti, J., Gross, V., Luft, F.C., Milia, A.F., Schulz, H., Dietz, R., Sharma, A.M. and Hübner, N.
Hypertension 38 (1): E1-E3. 1 January 2001

Congenic substitution mapping excludes Sa as a candidate gene locus for a blood pressure quantitative trait locus on rat chromosome 1.
Hübner, N., Lee, Y.A., Lindpaintner, K., Ganten, D. and Kreutz, R.
Hypertension 34 : 643-648. 1 January 1999

Role of the alpha, beta, and gamma subunits of epithelial sodium channel in a model of polygenic hypertension.
Kreutz, R., Struk, B., Rubattu, S., Hübner, N., Szpirer, J., Szpirer, C., Ganten, D. and Lindpaintner, K.
Hypertension 29 : 131-136. 1 January 1997

Altered angiotensinogen amino acid sequence and plasma angiotensin II levels in genetically hypertensive rats: a study on cause and effects.
Huebner, N., Kreutz, R., Takahashi, S., Ganten, D. and Lindpaintner, K.
Hypertension 26 : 279-284. 1 January 1995

Unlike human hypertension, blood pressure in a hereditary hypertensive rat strain shows no linkage to the angiotensinogen locus.
Hübner, N., Kreutz, R., Takahashi, S., Ganten, D. and Lindpaintner, K.
Hypertension 23 (6 Pt 1): 797-801. 1 June 1994

International Journal of Developmental Biology

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

International Journal of Molecular Sciences

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

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

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

Investigative Ophthalmology & Visual Science

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

Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.
Puk, O., Loester, J., Dalke, C., Soewarto, D., Fuchs, H., Budde, B., Nuernberg, P., Wolf, E., de Angelis, M.H. and Graw, J.
Investigative Ophthalmology & Visual Science 49 (4): 1525-1532. April 2008

JACC: Basic to Translational Science

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

JAMA Otolaryngology Head & Neck Surgery

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

JCI Insight

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

JHEP Reports

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)

Journal of Allergy and Clinical Immunology

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

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

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

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

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

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

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

A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema.
Schulz, F., Marenholz, I., Foelster-Holst, R., Chen, C., Sternjak, A., Baumgrass, R., Esparza-Gordillo, J., Grueber, C., Nickel, R., Schreiber, S., Stoll, M., Kurek, M., Rueschendorf, F., Huebner, N., Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 120 (5): 1097-1102. November 2007

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
Marenholz, I., Nickel, R., Rueschendorf, F., Schulz, F., Esparza-Gordillo, J., Kerscher, T., Grueber, C., Lau, S., Worm, M., Keil, T., Kurek, M., Zaluga, E., Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 118 (4): 866-871. October 2006

Journal of Biological Chemistry

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure.
Gotthardt, M., Hammer, R.E., Hübner, N., Monti, J., Witt, C.C., McNabb, M., Richardson, J.A., Granzier, H., Labeit, S. and Herz, J.
Journal of Biological Chemistry 278 (8): 6059-6065. 21 February 2003

Journal of Bone and Mineral Research

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

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

Journal of Cell Science

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

Journal of Cerebral Blood Flow and Metabolism

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

Journal of Clinical Endocrinology and Metabolism

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.
Bayer, Y., Neumann, S., Meyer, B., Rueschendorf, F., Reske, A., Brix, T., Hegedues, L., Langer, P., Nuernberg, P. and Paschke, R.
Journal of Clinical Endocrinology and Metabolism 89 (8): 4044-4052. 1 January 2004

Journal of Clinical Investigation

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

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

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

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

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

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

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

Tissue and development specific expression of multiple alternatively spliced transcripts of rat neuronal nitric oxide synthase.
Lee, M.A., Cai, L., Hübner, N., Lee, Y.A. and Lindpaintner, K.
Journal of Clinical Investigation 100 (6): 1507-1512. 15 September 1997

Journal of Clinical Psychopharmacology

Association of CYP2D6 genotypes and personality traits in healthy individuals.
Kirchheiner, J., Lang, U., Stamm, T., Sander, T. and Gallinat, J.
Journal of Clinical Psychopharmacology 26 (4): 440-442. August 2006

Journal of Cognitive Neuroscience

Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans.
Gallinat, J., Goetz, T., Kalus, P., Bajbouj, M., Sander, T. and Winterer, G.
Journal of Cognitive Neuroscience 19 (1): 59-68. January 2007

Journal of Diabetes Research

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

Journal of Endocrinology

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

Journal of Evolutionary Biolog

Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.
Zechner, U., Shi, W., Hemberger, M., Himmelbauer, H., Otto, S., Orth, A., Kalscheuer, V., Fischer, U., Elango, R., Reis, A., Vogel, W., Ropers, H., Rueschendorf, F. and Fundele, R.
Journal of Evolutionary Biolog 17 (2): 453-460. 1 January 2004

Journal of Genetics and Genomics

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

Journal of Hypertension

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

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

A gene expression analysis in rat kidney following high and low salt intake.
Barta, P., Monti, J., Maass, P.G., Gorzelniak, K., Müller, D.N., Dechend, R., Luft, F.C., Hübner, N. and Sharma, A.M.
Journal of Hypertension 20 : 1115-1120. 1 January 2002

Journal of Immunology

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

Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy.
Wenzel, K., Zabojszcza, J., Carl, M., Taubert, S., Lass, A., Harris, C.L., Ho, M., Schulz, H., Hummel, O., Hubner, N., Osterziel, K.J. and Spuler, S.
Journal of Immunology 175 (9): 6219-6225. 1 November 2005

Journal of Investigative Dermatology

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

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

Journal of Medical Genetics

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer, J., Dreweke, A., Becker, C., Goehring, I., Thiel, C.T., Peippo, M.M., Rauch, R., Hofbeck, M., Trautmann, U., Zweier, C., Zenker, M., Hueffmeier, U., Kraus, C., Ekici, A.B., Rueschendorf, F., Nuernberg, P., Reis, A. and Rauch, A.
Journal of Medical Genetics 44 (10): 629-636. October 2007

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M., Rueschendorf, F., Krause, S., Goebel, H.H., Koehler, K., Becker, C., Pongratz, D., Mueller-Hoecker, J., Nuernberg, P., Stoltenburg-Didinger, G., Lochmueller, H. and Huebner, A.
Journal of Medical Genetics 41 (11): 842-848. 1 January 2004

Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch, A., Rueschendorf, F., Huang, J., Trautmann, U., Becker, C., Thiel, C., Jones, K.W., Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 1 January 2004

Journal of Molecular Biology

The complete mouse nebulin gene sequence and the identification of cardiac nebulin.
Kazmierski, S.T., Antin, P.B., Witt, C.C., Huebner, N., McElhinny, A.S., Labeit, S. and Gregorio, C.C.
Journal of Molecular Biology 328 (4): 835-846. 1 May 2003

Journal of Molecular Cell Biology

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

Journal of Molecular Medicine

Dysfunction of dysferlin-deficient hearts.
Wenzel, K., Geier, C., Qadri, F., Huebner, N., Schulz, H., Erdmann, B., Gross, V., Bauer, D., Dechend, R., Dietz, R., Osterziel, K.J., Spuler, S. and Oezcelik, C.
Journal of Molecular Medicine 85 (11): 1203-1214. November 2007

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Lee-Kirsch, M.A., Chowdhury, D., Harvey, S., Gong, M., Senenko, L., Engel, K., Pfeiffer, C., Hollis, T., Gahr, M., Perrino, F.W., Lieberman, J. and Hubner, N.
Journal of Molecular Medicine 85 (5): 531-537. May 2007

Journal of Molecular and Cellular Cardiology

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

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

Journal of Neural Transmission

Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample.
Heiser, P., Dempfle, A., Friedel, S., Konrad, K., Hinney, A., Kiefl, H., Walitza, S., Bettecken, T., Saar, K., Linder, M., Warnke, A., Herpertz-Dahlmann, B., Schaefer, H., Remschmidt, H. and Hebebrand, J.
Journal of Neural Transmission 114 (4): 513-521. April 2007

Journal of Neuroinflammation

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

Journal of Neurology

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

Journal of Orofacial Orthopedics

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

Journal of Thrombosis and Thrombolysis

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

Journal of cardiovascular translational research

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

Journal of the American College of Cardiology

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

Journal of the American Heart Association

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

Journal of the American Society of Nephrology

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

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

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome.
Ratelade, J., Lavin, T.A., Muda, A.O., Morisset, L., Mollet, G., Boyer, O., Chen, D.S., Henger, A., Kretzler, M., Huebner, N., Thery, C., Gubler, M.C., Montagutelli, X., Antignac, C. and Esquivel, E.L.
Journal of the American Society of Nephrology 19 (8): 1491-1499. August 2008

Kidney International

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

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

Leukemia

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

Life Science Alliance

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

Mammalian Genome

Integrated gene expression profiling and linkage analysis in the rat.
Petretto, E., Mangion, J., Pravanec, M., Hubner, N. and Aitman, T.J.
Mammalian Genome 17 (6): 480-489. June 2006

The gene encoding endothelial nitric oxide synthase, Nos3, maps to rat chromosome 4.
Hübner, N., Kreutz, R., Rubattu, S., Lee, Y.A., Ganten, D., Allen, P.D. and Lindpaintner, K.
Mammalian Genome 6 (10): 758-759. 1 January 1995

Metabolism

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

Methods in Molecular Biology

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

Molecular & Cellular Proteomics

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

Molecular Autism

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

Molecular Cell

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

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

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

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

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

Molecular Psychiatry

The Met allele of the BDNF Val66Met polymorphism is associated with increased BDNF serum concentrations.
Lang, U.E., Hellweg, R., Sander, T. and Gallinat, J.
Molecular Psychiatry 14 (2): 120-122. February 2009

Association and linkage of allelic variants of the dopamine transporter gene in ADHD.
Friedel, S., Saar, K., Sauer, S., Dempfle, A., Walitza, S., Renner, T., Romanos, M., Freitag, C., Seitz, C., Palmason, H., Scherag, A., Windemuth-Kieselbach, C., Schimmelmann, B.G., Wewetzer, C., Meyer, J., Warnke, A., Lesch, K.P., Reinhardt, R., Herpertz-Dahlmann, B., Linder, M., Hinney, A., Remschmidt, H., Schaefer, H., Konrad, K., Huebner, N. and Hebebrand, J.
Molecular Psychiatry 12 (10): 923-933. October 2007

A genome-wide scan for attention-deficit/hyperactivity disorder in 155 german sib-pairs.
Hebebrand, J., Dempfle, A., Saar, K., Thiele, H., Herpertz-Dahlmann, B., Linder, M., Kiefl, H., Remschmidt, H., Hemminger, U., Warnke, A., Knoelker, U., Heiser, P., Friedel, S., Hinney, A., Schaefer, H., Nuernberg, P. and Konrad, K.
Molecular Psychiatry 11 (2): 196-205. February 2006

Molecular Vision

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
Vanita, V., Singh, J.R., Hejtmancik, J.F., Nuernberg, P., Hennies, H.C., Singh, D. and Sperling, K.
Molecular Vision 12 : 518-522. 22 May 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
Vanita, V., Hejtmancik, J.F., Hennies, H.C., Guleria, K., Nuernberg, P., Singh, D., Sperling, K. and Singh, J.R.
Molecular Vision 12 : 93-99. 21 February 2006

NAR Genomics and Bioinformatics

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

Nature

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

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

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

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

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

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

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

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
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Nature 467 (7314): 460-464. 23 September 2010

Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
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Nature 428 (6982): 493-521. 1 April 2004

Nature Biotechnology

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

Nature Cardiovascular Research

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

Nature Communications

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

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

pTINCR microprotein promotes epithelial differentiation and suppresses tumor growth through CDC42 SUMOylation and activation.
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Nature Communications 13 (1): 6840. 11 November 2022

Protective immune trajectories in early viral containment of non-pneumonic SARS-CoV-2 infection.
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Nature Communications 13 (1): 1018. 23 February 2022

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
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Nature Communications 12 (1): 6618. 16 November 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

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

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

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

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

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

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

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

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

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

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

Nature Ecology & Evolution

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

Nature Genetics

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

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

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
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Nature Genetics 47 (12): 1449-1456. December 2015