Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Saskia, Biskup"'
Autor:
Pauline Latzer, Henning Zelba, Florian Battke, Annekathrin Reinhardt, Borong Shao, Oliver Bartsch, Armin Rabsteyn, Johannes Harter, Martin Schulze, Thomas Okech, Alexander Golf, Christina Kyzirakos-Feger, Simone Kayser, Natalia Pieper, Magdalena Feldhahn, Julian Wünsche, Christian Seitz, Dirk Hadaschik, Claus Garbe, Till-Karsten Hauser, Christian la Fougère, Dirk Biskup, Dawn Brooke, David Parker, Uwe M. Martens, Gerald Illerhaus, Deborah T. Blumenthal, Ryan Merrell, Luisa Sánchez Lorenzo, Máté Hidvégi, Paula de Robles, Sied Kebir, William W. Li, Vincent W. Li, Matthew Williams, Alexandra M. Miller, Santosh Kesari, Michael Castro, Annick Desjardins, David M. Ashley, Henry S. Friedman, Patrick Y. Wen, Elisabeth C. Neil, Fabio M. Iwamoto, Bence Sipos, Karsten Geletneky, Lars Zender, Martin Glas, David A. Reardon, Saskia Biskup
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)
Abstract Current treatment outcome of patients with glioblastoma (GBM) remains poor. Following standard therapy, recurrence is universal with limited survival. Tumors from 173 GBM patients are analysed for somatic mutations to generate a personalized
Externí odkaz:
https://doaj.org/article/98a07e6f1b4647369483ebef527a8f94
Autor:
Stephan Spahn, Fabian Kleinhenz, Ekaterina Shevchenko, Aaron Stahl, Yvonne Rasen, Christine Geisler, Kristina Ruhm, Marion Klaumuenzer, Thales Kronenberger, Stefan A. Laufer, Holly Sundberg-Malek, Khac Cuong Bui, Marius Horger, Saskia Biskup, Klaus Schulze-Osthoff, Markus Templin, Nisar P. Malek, Antti Poso, Michael Bitzer
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Fibroblast growth factor receptor (FGFR)−2 can be inhibited by FGFR-selective or non-selective tyrosine kinase inhibitors (TKIs). Selective TKIs are approved for cholangiocarcinoma (CCA) with FGFR2 fusions; however, their application is li
Externí odkaz:
https://doaj.org/article/4e23905b41b4488d8d1d8c66053fe10f
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Hossein Daghagh, Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, Ebrahim Sakhinia
Publikováno v:
BioImpacts, Vol 13, Iss 3, Pp 183-190 (2023)
Introduction: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant
Externí odkaz:
https://doaj.org/article/8a36d94e52c446e09f23a4e3c3a7c0c0
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Henning Zelba, Christina Kyzirakos, Simone Kayser, Borong Shao, Annekathrin Reinhardt, Natalia Pieper, Armin Rabsteyn, Dennis Döcker, Sorin Armeanu-Ebinger, Matthias Kloor, Dirk Hadaschik, Martin Schulze, Florian Battke, Alexander Golf, Saskia Biskup
Publikováno v:
Vaccines, Vol 12, Iss 4, p 397 (2024)
Ovarian cancer is one of the most common cancers among women and the most lethal malignancy of all gynecological cancers. Surgery is promising in the early stages; however, most patients are first diagnosed in the advanced stages, where treatment opt
Externí odkaz:
https://doaj.org/article/71d99f3c84404e52ae0b8a7bc9721f6d
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Network targeting of disease-specific nodes represents a useful principle for designing combination cancer therapy. In this case of a patient with relapsed leptomeningeal glioblastoma, comprehensive molecular diagnosis led to the identification of a
Externí odkaz:
https://doaj.org/article/870afce3373c406ab1cd7452ac187cd0
Autor:
Henning Zelba, Armin Rabsteyn, Oliver Bartsch, Christina Kyzirakos, Simone Kayser, Marcel Seibold, Johannes Harter, Pauline Latzer, Dirk Hadaschik, Florian Battke, Alexander Golf, Matthew B. Rettig, Saskia Biskup
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Localized prostate cancer is curable, but metastatic castration sensitive prostate cancer has a low 5-year survival rate, while broad treatment options are lacking. Here we present an mCSPC patient under remission receiving individualized neoantigen-
Externí odkaz:
https://doaj.org/article/a73d96006989470ca02025d8a8342028
Autor:
Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcr
Externí odkaz:
https://doaj.org/article/d06ce5f2e2694610a483098cea3eee08
Autor:
Maike F. Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, Stefan Nikolin, Kristl G. Claeys, Ulrike Schöne, Danique Beijer, Natalie Winter, Pascal Achenbach, Burkhard Gess, Jörg B. Schulz, Lejla Mulahasanovic
Publikováno v:
Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
Abstract By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a mixed neuro-myopathic phenotype. The variant is located within the active site of polymeras
Externí odkaz:
https://doaj.org/article/4bd218aa46e54d17948277f13d2b6aa9