Gene Therapy of the Hemoglobinopathies

by Joachim B. Kunz, Andreas E. Kulozik
Published 2020-10-01

The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay.

by Niels H Gehring, Styliani Lamprinaki, Matthias W Hentze, Andreas E Kulozik
Published 2009-05-01

Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

by Maila Giannandrea, Fabrizia C Guarnieri, Niels H Gehring, Elena Monzani, Fabio Benfenati, Andreas E Kulozik, Flavia Valtorta
Published 2013-01-01

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

by Stephan Lobitz, Joachim B. Kunz, Holger Cario, Dani Hakimeh, Andrea Jarisch, Andreas E. Kulozik, Lena Oevermann, Regine Grosse
Published 2021-01-01

Exon Junction Complexes Show a Distributional Bias toward Alternatively Spliced mRNAs and against mRNAs Coding for Ribosomal Proteins

by Christian Hauer, Jana Sieber, Thomas Schwarzl, Ina Hollerer, Tomaz Curk, Anne-Marie Alleaume, Matthias W. Hentze, Andreas E. Kulozik
Published 2016-08-01

HIV-1 Recruits UPF1 but Excludes UPF2 to Promote Nucleocytoplasmic Export of the Genomic RNA

by Lara Ajamian, Karen Abel, Shringar Rao, Kishanda Vyboh, Francisco García-de-Gracia, Ricardo Soto-Rifo, Andreas E. Kulozik, Niels H. Gehring, Andrew J. Mouland
Published 2015-10-01

Erratum to: Insights into the design and interpretation of iCLIP experiments

by Nejc Haberman, Ina Huppertz, Jan Attig, Julian König, Zhen Wang, Christian Hauer, Matthias W. Hentze, Andreas E. Kulozik, Hervé Le Hir, Tomaž Curk, Christopher R. Sibley, Kathi Zarnack, Jernej Ule
Published 2017-08-01

MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB

by David M. Cordas dos Santos, Juliane Eilers, Alfonso Sosa Vizcaino, Elena Orlova, Martin Zimmermann, Martin Stanulla, Martin Schrappe, Kathleen Börner, Dirk Grimm, Martina U. Muckenthaler, Andreas E. Kulozik, Joachim B. Kunz
Published 2018-06-01

NMD inhibition by 5-azacytidine augments presentation of immunogenic frameshift-derived neoepitopes

by Jonas P. Becker, Dominic Helm, Mandy Rettel, Frank Stein, Alejandro Hernandez-Sanchez, Katharina Urban, Johannes Gebert, Matthias Kloor, Gabriele Neu-Yilik, Magnus von Knebel Doeberitz, Matthias W. Hentze, Andreas E. Kulozik
Published 2021-04-01

PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia

by Paulina Richter‐Pechańska, Joachim B Kunz, Beat Bornhauser, Caroline vonKnebel Doeberitz, Tobias Rausch, Büşra Erarslan‐Uysal, Yassen Assenov, Viktoras Frismantas, Blerim Marovca, Sebastian M Waszak, Martin Zimmermann, Julia Seemann, Margit Happich, Martin Stanulla, Martin Schrappe, Gunnar Cario, Gabriele Escherich, Kseniya Bakharevich, Renate Kirschner‐Schwabe, Cornelia Eckert, Martina U Muckenthaler, Jan O Korbel, Jean‐Pierre Bourquin, Andreas E Kulozik
Published 2018-12-01

Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors

by Büşra Erarslan‐Uysal, Joachim B Kunz, Tobias Rausch, Paulina Richter‐Pechańska, Ianthe AEM vanBelzen, Viktoras Frismantas, Beat Bornhauser, Diana Ordoñez‐Rueada, Malte Paulsen, Vladimir Benes, Martin Stanulla, Martin Schrappe, Gunnar Cario, Gabriele Escherich, Kseniya Bakharevich, Renate Kirschner‐Schwabe, Cornelia Eckert, Tsvetomir Loukanov, Matthias Gorenflo, Sebastian M Waszak, Jean‐Pierre Bourquin, Martina U Muckenthaler, Jan O Korbel, Andreas E Kulozik
Published 2020-09-01

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

by Mitchell J. Machiela, Thomas G. P. Grünewald, Didier Surdez, Stephanie Reynaud, Olivier Mirabeau, Eric Karlins, Rebeca Alba Rubio, Sakina Zaidi, Sandrine Grossetete-Lalami, Stelly Ballet, Eve Lapouble, Valérie Laurence, Jean Michon, Gaelle Pierron, Heinrich Kovar, Nathalie Gaspar, Udo Kontny, Anna González-Neira, Piero Picci, Javier Alonso, Ana Patino-Garcia, Nadège Corradini, Perrine Marec Bérard, Neal D. Freedman, Nathaniel Rothman, Casey L. Dagnall, Laurie Burdett, Kristine Jones, Michelle Manning, Kathleen Wyatt, Weiyin Zhou, Meredith Yeager, David G. Cox, Robert N. Hoover, Javed Khan, Gregory T. Armstrong, Wendy M. Leisenring, Smita Bhatia, Leslie L. Robison, Andreas E. Kulozik, Jennifer Kriebel, Thomas Meitinger, Markus Metzler, Wolfgang Hartmann, Konstantin Strauch, Thomas Kirchner, Uta Dirksen, Lindsay M. Morton, Lisa Mirabello, Margaret A. Tucker, Franck Tirode, Stephen J. Chanock, Olivier Delattre
Published 2018-08-01

Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.

by Shu-Hong Lin, Joshua N Sampson, Thomas G P Grünewald, Didier Surdez, Stephanie Reynaud, Olivier Mirabeau, Eric Karlins, Rebeca Alba Rubio, Sakina Zaidi, Sandrine Grossetête-Lalami, Stelly Ballet, Eve Lapouble, Valérie Laurence, Jean Michon, Gaelle Pierron, Heinrich Kovar, Udo Kontny, Anna González-Neira, Javier Alonso, Ana Patino-Garcia, Nadège Corradini, Perrine Marec Bérard, Jeremy Miller, Neal D Freedman, Nathaniel Rothman, Brian D Carter, Casey L Dagnall, Laurie Burdett, Kristine Jones, Michelle Manning, Kathleen Wyatt, Weiyin Zhou, Meredith Yeager, David G Cox, Robert N Hoover, Javed Khan, Gregory T Armstrong, Wendy M Leisenring, Smita Bhatia, Leslie L Robison, Andreas E Kulozik, Jennifer Kriebel, Thomas Meitinger, Markus Metzler, Manuela Krumbholz, Wolfgang Hartmann, Konstantin Strauch, Thomas Kirchner, Uta Dirksen, Lisa Mirabello, Margaret A Tucker, Franck Tirode, Lindsay M Morton, Stephen J Chanock, Olivier Delattre, Mitchell J Machiela
Published 2020-01-01

Sarcoma classification by DNA methylation profiling

by Christian Koelsche, Daniel Schrimpf, Damian Stichel, Martin Sill, Felix Sahm, David E. Reuss, Mirjam Blattner, Barbara Worst, Christoph E. Heilig, Katja Beck, Peter Horak, Simon Kreutzfeldt, Elke Paff, Sebastian Stark, Pascal Johann, Florian Selt, Jonas Ecker, Dominik Sturm, Kristian W. Pajtler, Annekathrin Reinhardt, Annika K. Wefers, Philipp Sievers, Azadeh Ebrahimi, Abigail Suwala, Francisco Fernández-Klett, Belén Casalini, Andrey Korshunov, Volker Hovestadt, Felix K. F. Kommoss, Mark Kriegsmann, Matthias Schick, Melanie Bewerunge-Hudler, Till Milde, Olaf Witt, Andreas E. Kulozik, Marcel Kool, Laura Romero-Pérez, Thomas G. P. Grünewald, Thomas Kirchner, Wolfgang Wick, Michael Platten, Andreas Unterberg, Matthias Uhl, Amir Abdollahi, Jürgen Debus, Burkhard Lehner, Christian Thomas, Martin Hasselblatt, Werner Paulus, Christian Hartmann, Ori Staszewski, Marco Prinz, Jürgen Hench, Stephan Frank, Yvonne M. H. Versleijen-Jonkers, Marije E. Weidema, Thomas Mentzel, Klaus Griewank, Enrique de Álava, Juan Díaz Martín, Miguel A. Idoate Gastearena, Kenneth Tou-En Chang, Sharon Yin Yee Low, Adrian Cuevas-Bourdier, Michel Mittelbronn, Martin Mynarek, Stefan Rutkowski, Ulrich Schüller, Viktor F. Mautner, Jens Schittenhelm, Jonathan Serrano, Matija Snuderl, Reinhard Büttner, Thomas Klingebiel, Rolf Buslei, Manfred Gessler, Pieter Wesseling, Winand N. M. Dinjens, Sebastian Brandner, Zane Jaunmuktane, Iben Lyskjær, Peter Schirmacher, Albrecht Stenzinger, Benedikt Brors, Hanno Glimm, Christoph Heining, Oscar M. Tirado, Miguel Sáinz-Jaspeado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Sebastian Moran, Manel Esteller, Jamal K. Benhamida, Marc Ladanyi, Eva Wardelmann, Cristina Antonescu, Adrienne Flanagan, Uta Dirksen, Peter Hohenberger, Daniel Baumhoer, Wolfgang Hartmann, Christian Vokuhl, Uta Flucke, Iver Petersen, Gunhild Mechtersheimer, David Capper, David T. W. Jones, Stefan Fröhling, Stefan M. Pfister, Andreas von Deimling
Published 2021-01-01

The German National Registry of Primary Immunodeficiencies (2012–2017)

by Sabine M. El-Helou, Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Sebastian Bode, Stephan R. Ehl, Stephan R. Ehl, Maximilian Heeg, Maximilian Heeg, Maria E. Maccari, Maria E. Maccari, Henrike Ritterbusch, Henrike Ritterbusch, Carsten Speckmann, Carsten Speckmann, Stephan Rusch, Stephan Rusch, Raphael Scheible, Raphael Scheible, Klaus Warnatz, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich H. Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif G. Hanitsch, Carmen M. Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz M. Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Juergen Laws, Jennifer Neubert, Prasad T. Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc T. Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Foell, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Mohr, Linda Geberzahn, Christian M. Hedrich, Christian M. Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Henes, Lothar Kanz, Christoph Boesecke, Jürgen K. Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas E. Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe, Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Gerd Horneff, Ariane Klein, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan Bielack, Ute Groß-Wieltsch, Carl F. Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof Kramm, Ingrid Kühnle, Silke Kullmann, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle, Gerhard Kindle, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher
Published 2019-07-01