Zobrazeno 1 - 10
of 216
pro vyhledávání: '"J. Spierings"'
Publikováno v:
Therapeutic Advances in Musculoskeletal Disease, Vol 13 (2021)
Systemic sclerosis (SSc) is a rare rheumatic disease characterised by inflammation, vasculopathy and fibrosis of skin and internal organs. A common complication and a leading cause of death in SSc is interstitial lung disease (ILD). The current armam
Externí odkaz:
https://doaj.org/article/359f0092146541ff83c022de13fc06ff
Autor:
Karim H. Saba, Valeria Difilippo, Emelie Styring, Jenny Nilsson, Linda Magnusson, Hilda van den Bos, René Wardenaar, Diana C. J. Spierings, Floris Foijer, Michaela Nathrath, Felix Haglund de Flon, Daniel Baumhoer, Karolin H. Nord
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract Amplification of the MDM2 and CDK4 genes on chromosome 12 is commonly associated with low-grade osteosarcomas. In this study, we conducted high-resolution genomic and transcriptomic analyses on 33 samples from 25 osteosarcomas, encompassing
Externí odkaz:
https://doaj.org/article/f2d58c99658e44fcb1256e76a852fcf0
Autor:
Martijn G. S. Rutten, Yu Lei, Joanne H. Hoogerland, Vincent W. Bloks, Hong Yang, Trijnie Bos, Kishore A. Krishnamurthy, Aycha Bleeker, Mirjam H. Koster, Rachel E. Thomas, Justina C. Wolters, Hilda van den Bos, Gilles Mithieux, Fabienne Rajas, Adil Mardinoglu, Diana C. J. Spierings, Alain de Bruin, Bart van de Sluis, Maaike H. Oosterveer
Publikováno v:
Cancer & Metabolism, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Background Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by a defect in glucose-6-phosphatase (G6PC1) activity, which induces severe hepatomegaly and increases the risk for liver cancer. Hepatic GSD Ia is
Externí odkaz:
https://doaj.org/article/176971327ab64839a0921d89e984a866
Autor:
Eleanor L. Woodward, Minjun Yang, Larissa H. Moura-Castro, Hilda van den Bos, Rebeqa Gunnarsson, Linda Olsson-Arvidsson, Diana C. J. Spierings, Anders Castor, Nicolas Duployez, Marketa Zaliova, Jan Zuna, Bertil Johansson, Floris Foijer, Kajsa Paulsson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
High hyperdiploid acute lymphoblastic leukaemia (HeH ALL) is driven by nonrandom chromosomal gains, which have been suggested to arise early - even before birth. Here, the authors use single-cell whole genome sequencing and in silico modelling to sho
Externí odkaz:
https://doaj.org/article/64d0d9d155f840b1a5e6a3ed8a02925f
Autor:
Lorenza Garribba, Giuseppina De Feudis, Valentino Martis, Martina Galli, Marie Dumont, Yonatan Eliezer, René Wardenaar, Marica Rosaria Ippolito, Divya Ramalingam Iyer, Andréa E. Tijhuis, Diana C. J. Spierings, Michael Schubert, Silvia Taglietti, Chiara Soriani, Simon Gemble, Renata Basto, Nick Rhind, Floris Foijer, Uri Ben-David, Daniele Fachinetti, Ylli Doksani, Stefano Santaguida
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Chromosomal instability leads to aneuploidy, a state of karyotype imbalance. By inducing controlled chromosome mis-segregation, Santaguida and colleagues show that aneuploidy can also instigate chromosomal instability.
Externí odkaz:
https://doaj.org/article/e226f0a659b0484e8d7815070b875a08
Autor:
Timothy K. Turkalo, Antonio Maffia, Johannes J. Schabort, Samuel G. Regalado, Mital Bhakta, Marco Blanchette, Diana C. J. Spierings, Peter M. Lansdorp, Dirk Hockemeyer
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Mutations of ATRX are frequent in cancers that immortalize through the ALT (Alternative lengthening of telomeres) pathway. Here the authors show that ALT features are repressed in embryonic stem cells that lack ATRX but induced by continuous telomere
Externí odkaz:
https://doaj.org/article/c82b5c4319a248149ad833c8327f0f16
Autor:
Dorine C Hintzen, Mar Soto, Michael Schubert, Bjorn Bakker, Diana C J Spierings, Karoly Szuhai, Peter M Lansdorp, Roel J C Kluin, Floris Foijer, René H Medema, Jonne A Raaijmakers
Publikováno v:
PLoS ONE, Vol 17, Iss 7, p e0268579 (2022)
Aneuploidy and chromosomal instability are both commonly found in cancer. Chromosomal instability leads to karyotype heterogeneity in tumors and is associated with therapy resistance, metastasis and poor prognosis. It has been hypothesized that aneup
Externí odkaz:
https://doaj.org/article/f584554feac24a5684cb7d0cfee58281
Autor:
Pepijn M. Schoonen, Yannick P. Kok, Elles Wierenga, Bjorn Bakker, Floris Foijer, Diana C. J. Spierings, Marcel A. T. M. vanVugt
Publikováno v:
Molecular Oncology, Vol 13, Iss 11, Pp 2422-2440 (2019)
Poly(ADP‐ribose) polymerase (PARP) inhibitors are selectively cytotoxic in cancer cells with defects in homologous recombination (HR) (e.g., due to BRCA1/2 mutations). However, not all HR‐deficient tumors efficiently respond to PARP inhibition an
Externí odkaz:
https://doaj.org/article/6e02b44132fe453cb49c7cb621010ed2
Autor:
Chiara Ciminieri, Manon E. Woest, Niki L. Reynaert, Irene H. Heijink, René Wardenaar, Diana C. J. Spierings, Corry-Anke Brandsma, Melanie Königshoff, Reinoud Gosens
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology, 68(4), 444-455. AMER THORACIC SOC
American Journal of Respiratory Cell and Molecular Biology, 68(4), 444-455. American Thoracic Society
American Journal of Respiratory Cell and Molecular Biology, 68(4), 444-455. American Thoracic Society
Chronic obstructive pulmonary disease (COPD) is characterized by a persistent inflammatory state in the lungs and defective tissue repair. Although the inflammatory response in patients with COPD is well characterized and known to be exaggerated duri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258fa929c06d2a40aec5d47882bd39d7
https://doi.org/10.1165/rcmb.2022-0209oc
https://doi.org/10.1165/rcmb.2022-0209oc
Autor:
Athel Cornish-Bowden, David Rasnick, Henry H. Heng, Steven Horne, Batoul Abdallah, Guo Liu, Christine J. Ye, Mathew Bloomfield, Mark D. Vincent, C. Marcelo Aldaz, Jenny Karlsson, Anders Valind, Caroline Jansson, David Gisselsson, Jennifer A. Marshall Graves, Aleksei A. Stepanenko, Svitlana V. Andreieva, Kateryna V. Korets, Dmytro O. Mykytenko, Nataliya L. Huleyuk, Vladimir P. Baklaushev, Oksana A. Kovaleva, Vladimir P. Chekhonin, Yegor S. Vassetzky, Stanislav S. Avdieiev, Bjorn Bakker, Aaron S. Taudt, Mirjam E. Belderbos, David Porubsky, Diana C. J. Spierings, Tristan V. de Jong, Nancy Halsema, Hinke G. Kazemier, Karina Hoekstra-Wakker, Allan Bradley, Eveline S. J. M. de Bont, Anke van den Berg, Victor Guryev, Peter M. Lansdorp, Maria Colomé Tatché, Floris Foijer, Thomas Liehr, Nicolaas C. Baudoin, Joshua M. Nicholson, Kimberly Soto, Isabel Quintanilla, Jordi Camps, Daniela Cimini, M. Dürrbaum, N. Donnelly, V. Passerini, C. Kruse, B. Habermann, Z. Storchová, Daniele Mandrioli, Fiorella Belpoggi, Ellen K Silbergeld, Melissa J Perry, Rolf I. Skotheim, Marthe Løvf, Bjarne Johannessen, Andreas M. Hoff, Sen Zhao, Jonas M. SveeStrømme, Anita Sveen, Ragnhild A. Lothe, R. Hehlmann, A. Voskanyan, A. Fabarius, Alfred Böcking, Stefan Biesterfeld, Leonid Berynskyy, Christof Börgermann, Rainer Engers, Josef Dietz, A. Fritz, N. Sehgal, J. Vecerova, B. Stojkovicz, H. Ding, N. Page, C. Tye, S. Bhattacharya, J. Xu, G. Stein, J. Stein, R. Berezney, Xue Gong, Sarah Grasedieck, Julian Swoboda, Frank G. Rücker, Lars Bullinger, Jonathan R. Pollack, Fani-Marlen Roumelioti, Maria Chiourea, Christina Raftopoulou, Sarantis Gagos, Peter Duesberg, Mat Bloomfield, Sunyoung Hwang, Hans Tobias Gustafsson, Ciara O’Sullivan, Aracelli Acevedo-Colina, Xinhe Huang, Christian Klose, Andrej Schevchenko, Robert C. Dickson, Paola Cavaliere, Noah Dephoure, Eduardo M. Torres, Martha R. Stampfer, Lukas Vrba, Mark A. LaBarge, Bernard Futscher, James C. Garbe, Yi-Hong Zhou, Andrew L. Trinh, Michelle Digman
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss S2, Pp 77-94 (2017)
Externí odkaz:
https://doaj.org/article/b6866d4289674f288bf6c946e8f882e4