Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Robert B. Russell"'
Autor:
Julia Schöpf, Sebastian Uhrig, Christoph E. Heilig, Kwang-Seok Lee, Tatjana Walther, Alexander Carazzato, Anna Maria Dobberkau, Dieter Weichenhan, Christoph Plass, Mark Hartmann, Gaurav D. Diwan, Zunamys I. Carrero, Claudia R. Ball, Tobias Hohl, Thomas Kindler, Patricia Rudolph-Hähnel, Dominic Helm, Martin Schneider, Anna Nilsson, Ingrid Øra, Roland Imle, Ana Banito, Robert B. Russell, Barbara C. Jones, Daniel B. Lipka, Hanno Glimm, Daniel Hübschmann, Wolfgang Hartmann, Stefan Fröhling, Claudia Scholl
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Linking clinical multi-omics with mechanistic studies may improve the understanding of rare cancers. We leverage two precision oncology programs to investigate rhabdomyosarcoma with FUS/EWSR1-TFCP2 fusions, an orphan malignancy without effec
Externí odkaz:
https://doaj.org/article/2ecd072ff8db496d9a6745bf800ae284
Autor:
Yuki Ono, Ryo Ito, Kaito Arai, Gurdeep Singh, Tsuyoshi Saitoh, Robert B. Russell, Francesco Raimondi, Junken Aoki, Juro Sakai, Asuka Inoue
Publikováno v:
Signal Transduction and Targeted Therapy, Vol 8, Iss 1, Pp 1-4 (2023)
Externí odkaz:
https://doaj.org/article/2dd83316b56b4837ab140d0eb22252e2
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
Abstract The rapid pace with which genetic variants are now being determined means there is a pressing need to understand how they affect biological systems. Variants from healthy individuals have previously been used to study blood groups or HLA div
Externí odkaz:
https://doaj.org/article/9b82b8d87ba74976ab3c362aa06c3118
Autor:
Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins
Publikováno v:
Cells, Vol 12, Iss 22, p 2662 (2023)
Bardet–Biedl syndrome (BBS) is an archetypal ciliopathy caused by dysfunction of primary cilia. BBS affects multiple tissues, including the kidney, eye and hypothalamic satiety response. Understanding pan-tissue mechanisms of pathogenesis versus th
Externí odkaz:
https://doaj.org/article/f4e1c8b64e9849f298d308a8c77caed5
Autor:
Mariam G. Aslanyan, Cenna Doornbos, Gaurav D. Diwan, Zeinab Anvarian, Tina Beyer, Katrin Junger, Sylvia E. C. van Beersum, Robert B. Russell, Marius Ueffing, Alexander Ludwig, Karsten Boldt, Lotte B. Pedersen, Ronald Roepman
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Establishment and maintenance of the primary cilium as a signaling-competent organelle requires a high degree of fine tuning, which is at least in part achieved by a variety of post-translational modifications. One such modification is ubiquitination
Externí odkaz:
https://doaj.org/article/763fbe7f15ec459a96e34a2a65158816
Publikováno v:
F1000Research, Vol 10 (2022)
Background: Considering protein mutations in their biological context is essential for understanding their functional impact, interpretation of high-dimensional datasets and development of effective targeted therapies in personalized medicine. Method
Externí odkaz:
https://doaj.org/article/a443dd15ce71419f9a97e83f00ace33f
Autor:
Fabiola De Marchi, Toni Franjkic, Paride Schito, Tommaso Russo, Jerneja Nimac, Anna A. Chami, Angelica Mele, Lea Vidatic, Jasna Kriz, Jean-Pierre Julien, Gordana Apic, Robert B. Russell, Boris Rogelj, Jason R. Cannon, Marco Baralle, Federica Agosta, Silva Hecimovic, Letizia Mazzini, Emanuele Buratti, Ivana Munitic
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1599 (2023)
Proteinopathy and neuroinflammation are two main hallmarks of neurodegenerative diseases. They also represent rare common events in an exceptionally broad landscape of genetic, environmental, neuropathologic, and clinical heterogeneity present in pat
Externí odkaz:
https://doaj.org/article/1d4499cfcc20462c9f6f60178f9f2d72
Autor:
Cristina Lopez, Nikolai Schleussner, Stephan H. Bernhart, Kortine Kleinheinz, Stephanie Sungalee, Henrike L. Sczakiel, Helene Kretzmer, Umut H. Toprak, Selina Glaser, Rabea Wagener, Ole Ammerpohl, Susanne Bens, Maciej Giefing, Juan C. Gonzalez Sanchez, Gordana Apic, Daniel Hubschmann, Martin Janz, Markus Kreuz, Anja Mottok, Judith M. Muller, Julian Seufert, Steve Hoffmann, Jan O. Korbel, Robert B. Russell, Roland Schule, Lorenz Trumper, Wolfram Klapper, Bernhard Radlwimmer, Peter Lichter, Ralf Kuppers, Matthias Schlesner, Stephan Mathas, Reiner Siebert
Publikováno v:
Haematologica, Vol 108, Iss 2 (2022)
Histone methylation-modifiers, such as EZH2 and KMT2D, are recurrently altered in B-cell lymphomas. To comprehensively describe the landscape of alterations affecting genes encoding histone methylation-modifiers in lymphomagenesis we investigated who
Externí odkaz:
https://doaj.org/article/3d3b5d4cbb534e4eb3816d334f4e9a3c
Autor:
Stefan Gröschel, Daniel Hübschmann, Francesco Raimondi, Peter Horak, Gregor Warsow, Martina Fröhlich, Barbara Klink, Laura Gieldon, Barbara Hutter, Kortine Kleinheinz, David Bonekamp, Oliver Marschal, Priya Chudasama, Jagoda Mika, Marie Groth, Sebastian Uhrig, Stephen Krämer, Christoph Heining, Christoph E. Heilig, Daniela Richter, Eva Reisinger, Katrin Pfütze, Roland Eils, Stephan Wolf, Christof von Kalle, Christian Brandts, Claudia Scholl, Wilko Weichert, Stephan Richter, Sebastian Bauer, Roland Penzel, Evelin Schröck, Albrecht Stenzinger, Richard F. Schlenk, Benedikt Brors, Robert B. Russell, Hanno Glimm, Matthias Schlesner, Stefan Fröhling
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Chordomas are rare bone tumors with limited therapeutic options. Here, the authors identify molecular alterations associated with defective homologous recombination DNA repair in advanced chordomas and report prolonged response in a patient treated w
Externí odkaz:
https://doaj.org/article/ba10289481024dc5944d84dae65732a8
Autor:
Cristina López, Kortine Kleinheinz, Sietse M. Aukema, Marius Rohde, Stephan H. Bernhart, Daniel Hübschmann, Rabea Wagener, Umut H. Toprak, Francesco Raimondi, Markus Kreuz, Sebastian M. Waszak, Zhiqin Huang, Lina Sieverling, Nagarajan Paramasivam, Julian Seufert, Stephanie Sungalee, Robert B. Russell, Julia Bausinger, Helene Kretzmer, Ole Ammerpohl, Anke K. Bergmann, Hans Binder, Arndt Borkhardt, Benedikt Brors, Alexander Claviez, Gero Doose, Lars Feuerbach, Andrea Haake, Martin-Leo Hansmann, Jessica Hoell, Michael Hummel, Jan O. Korbel, Chris Lawerenz, Dido Lenze, Bernhard Radlwimmer, Julia Richter, Philip Rosenstiel, Andreas Rosenwald, Markus B. Schilhabel, Harald Stein, Stephan Stilgenbauer, Peter F. Stadler, Monika Szczepanowski, Marc A. Weniger, Marc Zapatka, Roland Eils, Peter Lichter, Markus Loeffler, Peter Möller, Lorenz Trümper, Wolfram Klapper, ICGC MMML-Seq Consortium, Steve Hoffmann, Ralf Küppers, Birgit Burkhardt, Matthias Schlesner, Reiner Siebert
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Burkitt lymphoma (BL) is the most common pediatric B-cell lymphoma. Here, within the International Cancer Genome Consortium, the authors performed whole genome and transcriptome sequencing of 39 sporadic BL, describing the landscape of mutations, str
Externí odkaz:
https://doaj.org/article/0f2708368b2a4696b47220ee30732ce8