Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

por Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Publicado 2013

CLD - A Detector Concept for the FCC-ee

por Bacchetta, Nicola, Blaising, Jean-Jacques, Brondolin, Erica, Dam, Mogens, Dannheim, Dominik, Elsener, Konrad, Hynds, Daniel, Janot, Patrick, Kolano, Anna Maria, Leogrande, Emilia, Linssen, Lucie, Nurnberg, Andreas Matthias, Perez, Emmanuel Francois, Petric, Marko, Roloff, Philipp Gerhard, Sailer, Andre, Siegrist, Nicolas, Viazlo, Oleksandr, Voutsinas, Georgios Gerasimos, Weber, Matthias Artur
Publicado 2019

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes

por Hoffmann, Lucas, Coras, Roland, Kobow, Katja, López-Rivera, Javier A., Lal, Dennis, Leu, Costin, Najm, Imad, Nürnberg, Peter, Herms, Jochen, Harter, Patrick N., Bien, Christian G., Kalbhenn, Thilo, Müller, Markus, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Blümcke, Ingmar, Jabari, Samir
Publicado 2023

Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway...

por Hoffmann, Lucas, Coras, Roland, Kobow, Katja, López-Rivera, Javier A., Lal, Dennis, Leu, Costin, Najm, Imad, Nürnberg, Peter, Herms, Jochen, Harter, Patrick N., Bien, Christian G., Kalbhenn, Thilo, Müller, Markus, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Blümcke, Ingmar, Jabari, Samir
Publicado 2023

S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDENTIFIES NOVEL CLASSIFICATION OF HODGKIN LYMPHOMA

por Heger, Jan-Michel, Mattlener, Julia, Mammadova, Laman, Sobesky, Sophia, Cirillo, Melita, Altmüller, Janine, Kirst, Elisabeth, Reinke, Sarah, Klapper, Wolfram, Bröckelmann, Paul J, Ferdinandus, Justin, Ullrich, Roland T, Freihammer, Max, Awerkiew, Sabine, Lohmann, Mia, Klein, Florian, Nürnberg, Peter, Hallek, Michael, Engert, Andreas, Borchman, Peter, von Tresckow, Bastian, Borchmann, Sven
Publicado 2023

Coronary artery disease associated transcription factor TCF21 regulates smooth muscle precursor cells that contribute to the fibrous cap

por Nurnberg, S.T., Cheng, K., Raiesdana, A., Kundu, R., Miller, C.L., Kim, J.B., Arora, K., Carcamo-Oribe, I., Xiong, Y., Tellakula, N., Nanda, V., Murthy, N., Boisvert, W.A., Hedin, U., Perisic, L., Aldi, S., Maegdefessel, L., Pjanic, M., Owens, G.K., Tallquist, M.D., Quertermous, T.
Publicado 2015

Defective Gpsm2/Gα(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

por Mauriac, Stephanie A., Hien, Yeri E., Bird, Jonathan E., Carvalho, Steve Dos-Santos, Peyroutou, Ronan, Lee, Sze Chim, Moreau, Maite M., Blanc, Jean-Michel, Gezer, Aysegul, Medina, Chantal, Thoumine, Olivier, Beer-Hammer, Sandra, Friedman, Thomas B., Rüttiger, Lukas, Forge, Andrew, Nürnberg, Bernd, Sans, Nathalie, Montcouquiol, Mireille
Publicado 2017

Anti-nociceptive action of peripheral mu-opioid receptors by G-beta-gamma protein-mediated inhibition of TRPM3 channels

por Dembla, Sandeep, Behrendt, Marc, Mohr, Florian, Goecke, Christian, Sondermann, Julia, Schneider, Franziska M, Schmidt, Marlene, Stab, Julia, Enzeroth, Raissa, Leitner, Michael G, Nuñez-Badinez, Paulina, Schwenk, Jochen, Nürnberg, Bernd, Cohen, Alejandro, Philipp, Stephan E, Greffrath, Wolfgang, Bünemann, Moritz, Oliver, Dominik, Zakharian, Eleonora, Schmidt, Manuela, Oberwinkler, Johannes
Publicado 2017

Author Correction: Defective Gpsm2/Gα(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome

por Mauriac, Stephanie A., Hien, Yeri E., Bird, Jonathan E., Carvalho, Steve Dos-Santos, Peyroutou, Ronan, Lee, Sze Chim, Moreau, Maite M., Blanc, Jean-Michel, Gezer, Aysegul, Medina, Chantal, Thoumine, Olivier, Beer-Hammer, Sandra, Friedman, Thomas B., Rüttiger, Lukas, Forge, Andrew, Nürnberg, Bernd, Sans, Nathalie, Montcouquiol, Mireille
Publicado 2018

Inhibition of IRF4 in dendritic cells by PRR-independent and -dependent signals inhibit Th2 and promote Th17 responses

por Lee, Jihyung, Zhang, Junyan, Chung, Young-Jun, Kim, Jun Hwan, Kook, Chae Min, González-Navajas, José M, Herdman, David S, Nürnberg, Bernd, Insel, Paul A, Corr, Maripat, Mo, Ji-Hun, Tao, Ailin, Yasuda, Kei, Rifkin, Ian R, Broide, David H, Sciammas, Roger, Webster, Nicholas JG, Raz, Eyal
Publicado 2020

Changes in supramolecular organization of cyanobacterial thylakoid membrane complexes in response to far-red light photoacclimation

por MacGregor-Chatwin, Craig, Nürnberg, Dennis J., Jackson, Philip J., Vasilev, Cvetelin, Hitchcock, Andrew, Ho, Ming-Yang, Shen, Gaozhong, Gisriel, Christopher J., Wood, William H.J., Mahbub, Moontaha, Selinger, Vera M., Johnson, Matthew P., Dickman, Mark J., Rutherford, Alfred William, Bryant, Donald A., Hunter, C. Neil
Publicado 2022

Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration...

por Honke, Jonas, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Leu, Costin, Pieper, Tom, Hartlieb, Till, Bien, Christian G., Woermann, Friedrich, Cloppenborg, Thomas, Kalbhenn, Thilo, Gaballa, Ahmed, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Dörfler, Arnd, Rampp, Stefan, Lemke, Johannes R., Baldassari, Sara, Baulac, Stéphanie, Lal, Dennis, Nürnberg, Peter, Blümcke, Ingmar
Publicado 2023

Coronary Artery Disease Associated Transcription Factor TCF21 Regulates Smooth Muscle Precursor Cells That Contribute to the Fibrous Cap

por Nurnberg, Sylvia T., Cheng, Karen, Raiesdana, Azad, Kundu, Ramendra, Miller, Clint L., Kim, Juyong B., Arora, Komal, Carcamo-Oribe, Ivan, Xiong, Yiqin, Tellakula, Nikhil, Nanda, Vivek, Murthy, Nikitha, Boisvert, William A., Hedin, Ulf, Perisic, Ljubica, Aldi, Silvia, Maegdefessel, Lars, Pjanic, Milos, Owens, Gary K., Tallquist, Michelle D., Quertermous, Thomas
Publicado 2015

Optical Transmission Characterization of Fused Silica Materials Irradiated at the CERN Large Hadron Collider

por Yang, S., Tate, A., Longo, R., Gilarte, M. Sabate, Cerutti, F., Mazzoni, S., Grosse Perdekamp, M., Bravin, E., Citron, Z., Kühn, B., Nürnberg, F., Cole, B., Fritchie, J., Gelber, I., Hoppesch, M., Jackobsen, S., Koeth, T., Lantz, C., MacLean, D., Mignerey, A., Murray, M., Palm, M., Phipps, M., Popescu, S., Santiago, N., Shenkar, S., Steinberg, P.
Publicado 2022

Genomic ALK alterations in primary and relapsed neuroblastoma

por Rosswog, Carolina, Fassunke, Jana, Ernst, Angela, Schömig-Markiefka, Birgid, Merkelbach-Bruse, Sabine, Bartenhagen, Christoph, Cartolano, Maria, Ackermann, Sandra, Theissen, Jessica, Blattner-Johnson, Mirjam, Jones, Barbara, Schramm, Kathrin, Altmüller, Janine, Nürnberg, Peter, Ortmann, Monika, Berthold, Frank, Peifer, Martin, Büttner, Reinhard, Westermann, Frank, Schulte, Johannes H., Simon, Thorsten, Hero, Barbara, Fischer, Matthias
Publicado 2023

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

por Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
Publicado 2013

Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases

por Nurnberg, Sylvia T., Guerraty, Marie A., Wirka, Robert C., Rao, H. Shanker, Pjanic, Milos, Norton, Scott, Serrano, Felipe, Perisic, Ljubica, Elwyn, Susannah, Pluta, John, Zhao, Wei, Testa, Stephanie, Park, YoSon, Nguyen, Trieu, Ko, Yi-An, Wang, Ting, Hedin, Ulf, Sinha, Sanjay, Barash, Yoseph, Brown, Christopher D., Quertermous, Thomas, Rader, Daniel J.
Publicado 2020

Biallelic variants in YRDC cause a developmental disorder with progeroid features

por Schmidt, Julia, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Isensee, Jörg, Li, Yun, Müller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Gökhan, Wollnik, Bernd
Publicado 2021

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

por Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
Publicado 2023

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

por Curtis, James, Luo, Yang, Zenner, Helen L., Cuchet-Lourenço, Delphine, Wu, Changxin, Lo, Kitty, Maes, Mailis, Alisaac, Ali, Stebbings, Emma, Liu, Jimmy Z., Kopanitsa, Liliya, Ignatyeva, Olga, Balabanova, Yanina, Nikolayevskyy, Vladyslav, Baessmann, Ingelore, Thye, Thorsten, Meyer, Christian G., Nürnberg, Peter, Horstmann, Rolf D., Drobniewski, Francis, Plagnol, Vincent, Barrett, Jeffrey C., Nejentsev, Sergey
Publicado 2015