Zobrazeno 1 - 10
of 553
pro vyhledávání: '"J. Spierings"'
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:
Anne Margriet Heijink, Colin Stok, David Porubsky, Eleni Maria Manolika, Jurrian K. de Kanter, Yannick P. Kok, Marieke Everts, H. Rudolf de Boer, Anastasia Audrey, Femke J. Bakker, Elles Wierenga, Marcel Tijsterman, Victor Guryev, Diana C. J. Spierings, Puck Knipscheer, Ruben van Boxtel, Arnab Ray Chaudhuri, Peter M. Lansdorp, Marcel A. T. M. van Vugt
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Sister chromatid exchanges (SCEs) are considered to be products of homologous recombination repair. The authors show that SCEs can arise independently of homologous recombination due to processing of replication intermediates during mitosis.
Externí odkaz:
https://doaj.org/article/6a7ed7595d2b4f12a042a1aaa930abc6
Autor:
Nadeem Shaikh, Alice Mazzagatti, Simone De Angelis, Sarah C. Johnson, Bjorn Bakker, Diana C. J. Spierings, René Wardenaar, Eleni Maniati, Jun Wang, Michael A. Boemo, Floris Foijer, Sarah E. McClelland
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-24 (2022)
Abstract Background A major driver of cancer chromosomal instability is replication stress, the slowing or stalling of DNA replication. How replication stress and genomic instability are connected is not known. Aphidicolin-induced replication stress
Externí odkaz:
https://doaj.org/article/605dfc366d034220a1dfc1ef067430aa
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Autor:
Camilla Coulson-Gilmer, Robert D. Morgan, Louisa Nelson, Bethany M. Barnes, Anthony Tighe, René Wardenaar, Diana C. J. Spierings, Helene Schlecht, George J. Burghel, Floris Foijer, Sudha Desai, Joanne C. McGrail, Stephen S. Taylor
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 40, Iss 1, Pp 1-26 (2021)
Abstract Background Patients with ovarian cancer often present at advanced stage and, following initial treatment success, develop recurrent drug-resistant disease. PARP inhibitors (PARPi) are yielding unprecedented survival benefits for women with B
Externí odkaz:
https://doaj.org/article/f3fbd598ccd148c7a8595d1081bbfe91
Autor:
Vincent C. T. Hanlon, Carl-Adam Mattsson, Diana C. J. Spierings, Victor Guryev, Peter M. Lansdorp
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract Background Single cell Strand-seq is a unique tool for the discovery and phasing of genomic inversions. Conventional methods to discover inversions with Strand-seq data are blind to known inversion locations, limiting their statistical power
Externí odkaz:
https://doaj.org/article/16deb8ca989d44d6a98c5d60ea29c201