Zobrazeno 1 - 10
of 516
pro vyhledávání: '"A. E. Kulozik"'
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTWe present a family that carries the β-hemoglobin variant Hb Santa Juana (HBB:c.326A>G, β 108(G10) Asn>Ser), also known as Hb Serres, in three generations. All affected family members had an anomal hemoglobin fraction as detected by HPLC bu
Externí odkaz:
https://doaj.org/article/7846fd0412674a8d831c62440f5696c9
Autor:
S. Colucci, V. Venturi, F. Nicole, D. Jové Solavera, M. Zimon, P. Richter-Pechanska, G. Hernandez, S. Unal, F. Gumruk, A. Diaz-Conradi, L. Romero-Cortadellas, X. Ferrer-Cortès, M. Olivella, M. Erlacher, C. Niemeyer, T. Wiesel, R. Pepperkok, M. D. Fleming, A. E. Kulozik, M. Sanchez, M. U. Muckenthaler
Publikováno v:
HemaSphere, Vol 6, Pp 175-176 (2022)
Externí odkaz:
https://doaj.org/article/cc27dea30d9a45ee91d754bcc80d90dd
Autor:
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
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Sarcomas are morphologically heterogeneous tumours rendering their classification challenging. Here the authors developed a classifier using DNA methylation data from several soft tissue and bone sarcoma subtypes, which has the potential to improve c
Externí odkaz:
https://doaj.org/article/c88e43d5043848c8bc27777e780e6d5b
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
In 1986, a paper in the Lancet was the first to collate hematology, molecular findings, and clinical features of homozygous sickle cell (SS) disease in India. The paper came from the group organized by Professor Bimal Kar in Burla Medical College, Sa
Externí odkaz:
https://doaj.org/article/865be4b4bd24482ca7564c65522fc71d
Autor:
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
Publikováno v:
iScience, Vol 24, Iss 4, Pp 102389- (2021)
Summary: Frameshifted protein sequences elicit tumor-specific T cell-mediated immune responses in microsatellite-unstable (MSI) cancers if presented by HLA class I molecules. However, their expression and presentation are limited by nonsense-mediated
Externí odkaz:
https://doaj.org/article/0d94a763505d49eea81e8b4ab2caa7f3
Autor:
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
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)
Abstract We aimed at identifying the developmental stage at which leukemic cells of pediatric T‐ALLs are arrested and at defining leukemogenic mechanisms based on ATAC‐Seq. Chromatin accessibility maps of seven developmental stages of human healt
Externí odkaz:
https://doaj.org/article/22d6864d026e473bab1f5a0e5f21e0cf
Autor:
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
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0237792 (2020)
BackgroundEwing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have
Externí odkaz:
https://doaj.org/article/f21a3cae3175421296c803674a427eeb
Autor:
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
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
Ewing sarcoma (EWS) is a rare pediatric bone cancer typically involving the EWSR1-FLI1 fusion. Here the authors perform a genome-wide association study and report three new EWS risk loci that reside near GGAA repeat sequences, and identify candidate
Externí odkaz:
https://doaj.org/article/0ac8edbb89d948f498acb3404c1156e8
Autor:
Joachim B. Kunz, Andreas Schlotmann, Andrea Daubenbüchel, Stephan Lobitz, Andrea Jarisch, Regine Grosse, Holger Cario, Lena Oevermann, Dani Hakimeh, Laura Tagliaferri, Andreas E. Kulozik
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 19, p 4543 (2021)
Sickle Cell Disease (SCD) is the most common monogenic disorder globally but qualifies as a rare disease in Germany. In 2012, the German Society for Paediatric Oncology and Haematology (GPOH) mandated a consortium of five university hospitals to deve
Externí odkaz:
https://doaj.org/article/fe6002fd060145848cc8dcee2771cb42
Autor:
Pieter Van Vlierberghe, Sofie Degerman, Małgorzata Dawidowska, Tom Taghon, David J. Curtis, Steven Goossens, Andreas E. Kulozik, Utpal P. Davé, Tomasz Szczepański, Jerzy R. Kowalczyk, Wim Vanden Berghe, Guy Van Camp, Bart Ghesquière, Marc R. Mansour, Rishi S. Kotecha, Laurence C. Cheung, Filip Van Nieuwerburgh, Dieter Deforce, Barbara De Moerloose, Tim Lammens, Ken Declerck, Paulina Richter-Pechańska, Büşra Erarslan-Uysal, Wouter Van Loocke, Filip Matthijssens, Tim Pieters, Lindy Reunes, Steven Strubbe, Anna Kuchmiy, Lien Provez, Lisa Demoen, Stien De Coninck, Mattias Landfors, Bronisława Szarzyńska, Morgan Thénoz, Juliette Roels
Supplementary Figure 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37559663088d0214e6be4f28eaa58110
https://doi.org/10.1158/2643-3230.22542787
https://doi.org/10.1158/2643-3230.22542787