A novel remitting leukodystrophy associated with a variant in FBP2

por Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
Publicado 2021

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

por Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Zschocke, Johannes, Hennies, Hans Christian, Schmuth, Matthias
Publicado 2021

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

por Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N., Zhou, Weibin, O'Toole, John F., Hoskins, Bethan E., Wolf, Matthias T. F., Hinkes, Bernward G., Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S., Ovunc, Bugsu, Allen, Susan J., Vega-Warner, Virginia, Wise, Eric, Harville, Heather M., Lyons, Robert H., Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A.
Publicado 2009

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

por Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Publicado 2013

Intrauterine Growth Retarded Progeny of Pregnant Sows Fed High Protein:Low Carbohydrate Diet Is Related to Metabolic Energy Deficit

por Metges, Cornelia C., Lang, Iris S., Hennig, Ulf, Brüssow, Klaus-Peter, Kanitz, Ellen, Tuchscherer, Margret, Schneider, Falk, Weitzel, Joachim M., Steinhoff-Ooster, Anika, Sauerwein, Helga, Bellmann, Olaf, Nürnberg, Gerd, Rehfeldt, Charlotte, Otten, Winfried
Publicado 2012

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Ass...

por Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre, Gieger, Christian, Strauch, Konstantin, Nothnagel, Michael, Nürnberg, Peter, Hennies, Hans Christian
Publicado 2016

Routine Optical Clearing of 3D-Cell Cultures: Simplicity Forward

por Nürnberg, Elina, Vitacolonna, Mario, Klicks, Julia, von Molitor, Elena, Cesetti, Tiziana, Keller, Florian, Bruch, Roman, Ertongur-Fauth, Torsten, Riedel, Katja, Scholz, Paul, Lau, Thorsten, Schneider, Richard, Meier, Julia, Hafner, Mathias, Rudolf, Rüdiger
Publicado 2020

Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients

por Heinrich, Maria, Sieg, Miriam, Kruppa, Jochen, Nürnberg, Peter, Schreier, Peter H., Heilmann-Heimbach, Stefanie, Hoffmann, Per, Nöthen, Markus M., Janke, Jürgen, Pischon, Tobias, Slooter, Arjen J. C., Winterer, Georg, Spies, Claudia D.
Publicado 2021

Transcriptional profiling reveals progeroid Ercc1(-/Δ) mice as a model system for glomerular aging

por Schermer, Bernhard, Bartels, Valerie, Frommolt, Peter, Habermann, Bianca, Braun, Fabian, Schultze, Joachim L, Roodbergen, Marianne, Hoeijmakers, Jan HJ, Schumacher, Björn, Nürnberg, Peter, Dollé, Martijn ET, Benzing, Thomas, Müller, Roman-Ulrich, Kurschat, Christine E
Publicado 2013

Cold-aggravated pain in humans caused by a hyperactive Na(V)1.9 channel mutant

por Leipold, Enrico, Hanson-Kahn, Andrea, Frick, Miya, Gong, Ping, Bernstein, Jonathan A., Voigt, Martin, Katona, Istvan, Oliver Goral, R., Altmüller, Janine, Nürnberg, Peter, Weis, Joachim, Hübner, Christian A., Heinemann, Stefan H., Kurth, Ingo
Publicado 2015

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

por Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria, Furniss, Dominic
Publicado 2017

Preclinical studies reveal that LSD1 inhibition results in tumor growth arrest in lung adenocarcinoma independently of driver mutations

por Macheleidt, Iris F., Dalvi, Priya S., Lim, So‐Young, Meemboor, Sonja, Meder, Lydia, Käsgen, Olivia, Müller, Marion, Kleemann, Karolin, Wang, Lingyu, Nürnberg, Peter, Rüsseler, Vanessa, Schäfer, Stephan C., Mahabir, Esther, Büttner, Reinhard, Odenthal, Margarete
Publicado 2018

Prekallikrein inhibits innate immune signaling in the lung and impairs host defense during pneumosepsis in mice

por Ding, Chao, Scicluna, Brendon P, Stroo, Ingrid, Yang, Jack, Roelofs, Joris JTH, de Boer, Onno J, de Vos, Alex F, Nürnberg, Peter, Revenko, Alexey S, Crosby, Jeff, van't Veer, Cornelis, van der Poll, Tom
Publicado 2019

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

por Lessel, Ivana, Chen, Mei-Jan, Lüttgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nürnberg, Peter, Korf, Bruce R., Kubisch, Christian, Lessel, Davor
Publicado 2020

P037: High breadth whole exome sequencing of circulating tumor DNA identifies novel recurrent genetic alterations in Hodgkin lymphoma

por Mammadova, Laman, Heger, Jan-Michel, Mattlener, Julia, Sobesky, Sophia, Cirillo, Melita, Bröckelmann, Paul J., Altmüller, Janine, Kirst, Elisabeth, Kreissl, Stefanie, Lohmann, Mia, Nürnberg, Peter, Engert, Andreas, Borchmann, Peter, Von Tresckow, Bastian, Borchmann, Sven
Publicado 2022

Test-beam characterisation of the CLICTD technology demonstrator - a small collection electrode High-Resistivity CMOS pixel sensor with simultaneous time and energy measurement

por Ballabriga, R., Buschmann, E., Campbell, M., Dannheim, D., Dort, K., Egidos, N., Huth, L., Kremastiotis, I., Kroger, J., Linssen, L., Llopart, X., Munker, M., Nürnberg, A., Snoeys, W., Spannagel, S., Vanat, T., Vicente, M., Williams, M.
Publicado 2021

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

por Ahmad, Ilyas, Lokau, Juliane, Kespohl, Birte, Malik, Naveed Altaf, Baig, Shahid Mahmood, Hartig, Roland, Behme, Daniel, Schwab, Roland, Altmüller, Janine, Jameel, Muhammad, Mucha, Sören, Thiele, Holger, Tariq, Muhammad, Nürnberg, Peter, Erdmann, Jeanette, Garbers, Christoph
Publicado 2023

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

por Cirak, Sebahattin, von Deimling, Florian, Sachdev, Shrikesh, Errington, Wesley J., Herrmann, Ralf, Bönnemann, Carsten, Brockmann, Knut, Hinderlich, Stephan, Lindner, Tom H., Steinbrecher, Alice, Hoffmann, Katrin, Privé, Gilbert G., Hannink, Mark, Nürnberg, Peter, Voit, Thomas
Publicado 2010

Consumptive coagulopathy is associated with a disturbed host response in patients with sepsis

por van Vught, Lonneke A., Uhel, Fabrice, Ding, Chao, van‘t Veer, Cees, Scicluna, Brendon P., Peters‐Sengers, Hessel, Klein Klouwenberg, Peter M. C., Nürnberg, Peter, Cremer, Olaf L., Schultz, Marcus J., van der Poll, Tom
Publicado 2021

Design and Characterization of the CLICTD Pixelated Monolithic Sensor Chip

por Kremastiotis, Iraklis, Ballabriga Sune, Rafael, Campbell, Michael, Dannheim, Dominik, Dort, Katharina, Egidos Plaja, Nuria, Kroeger, Jens, Linssen, Lucie, Llopart Cudie, Xavi, Munker, Magdalena, Nurnberg, Andreas Matthias, Peric, Ivan, Spannagel, Simon, Vanat, Tomas, Williams, Morag Jean
Publicado 2020