Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.

Autor: Atiq Faramarz, Jesper A Balk, Janne J M van Schie, Anneke B Oostra, Cherien A Ghandour, Martin A Rooimans, Rob M F Wolthuis, Job de Lange

Publikováno v: PLoS ONE, Vol 15, Iss 1, p e0220348 (2020)

In a process linked to DNA replication, duplicated chromosomes are entrapped in large, circular cohesin complexes and functional sister chromatid cohesion (SCC) is established by acetylation of the SMC3 cohesin subunit. Roberts Syndrome (RBS) and War

Externí odkaz: https://doaj.org/article/70c181c7128843c4bada5b22ebd8f2ca

MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC

Autor: Janne JM van Schie, Klaas de Lint, Govind M Pai, Martin A Rooimans, Rob MF Wolthuis, Job de Lange

Publikováno v: Life Science Alliance, 6(2). Rockefeller University Press
Life Science Alliance. Rockefeller University Press
van Schie, JJM, de Lint, K, Pai, MG, Rooimans, M A, Wolthuis, R & de Lange, J 2022, ' MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC ', Life Science Alliance .
van Schie, J J, de Lint, K, Pai, G M, Rooimans, M A, Wolthuis, R M & de Lange, J 2023, ' MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC ', Life Science Alliance, vol. 6, no. 2 . https://doi.org/10.26508/lsa.202201596

The leading strand–oriented alternative PCNA clamp loader DSCC1-RFC functions in DNA replication, repair, and sister chromatid cohesion (SCC), but how it facilitates these processes is incompletely understood. Here, we confirm that loss of human DS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d91388d155ba3fdf16774de19f72517
https://pure.amc.nl/en/publications/mms22ltonsl-functions-in-sister-chromatid-cohesion-in-a-pathway-parallel-to-dscc1rfc(e2ffed33-a8c6-4156-8eaf-7040997d00cb).html

BIRC2–BIRC3 amplification

Autor: Khashayar Roohollahi, Yvonne de Jong, Govind Pai, Mohamad Amr Zaini, Klaas de Lint, Daoud Sie, Martin A. Rooimans, Davy Rockx, Elizabeth E. Hoskins, Najim Ameziane, Rob Wolthuis, Hans Joenje, Susanne I. Wells, Josephine Dorsman

Publikováno v: Roohollahi, K, de Jong, Y, Pai, G, Zaini, M A, de Lint, K, Sie, D, Rooimans, M A, Rockx, D, Hoskins, E E, Ameziane, N, Wolthuis, R, Joenje, H, Wells, S I & Dorsman, J 2022, ' BIRC2–BIRC3 amplification : a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia ', Scientific Reports, vol. 12, no. 1, 45 . https://doi.org/10.1038/s41598-021-04042-9
Scientific Reports
Scientific Reports, 12(1):45. Nature Publishing Group
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)

Head-and-neck squamous cell carcinomas (HNSCCs) are relatively common in patients with Fanconi anemia (FA), a hereditary chromosomal instability disorder. Standard chemo-radiation therapy is not tolerated in FA due to an overall somatic hypersensitiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1246697a12884d6a7133efb205958e6
http://www.scopus.com/inward/record.url?scp=85122438265&partnerID=8YFLogxK

Biallelic

Autor: Sara, Carvalhal, Ingrid, Bader, Martin A, Rooimans, Anneke B, Oostra, Jesper A, Balk, René G, Feichtinger, Christine, Beichler, Michael R, Speicher, Johanna M, van Hagen, Quinten, Waisfisz, Mieke, van Haelst, Martijn, Bruijn, Alexandra, Tavares, Johannes A, Mayr, Rob M F, Wolthuis, Raquel A, Oliveira, Job, de Lange

Publikováno v: Science Advances

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-speci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f78dfdf066237826698f3c845e9c86b3
https://pubmed.ncbi.nlm.nih.gov/35044816

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

Autor: Orlando D. Schärer, Rob M. F. Wolthuis, Angela Kragten, Hyunsuk Kim, Sebastian Lunke, Román González-Prieto, Susan M. White, Sarah Pantaleo, Winita Hardikar, Wouter W. Wiegant, Brian T. Wilson, Martin A. Rooimans, Jung-Eun Yeo, Annelotte P. Wondergem, Haico van Attikum, Catherine Quinlan, Katja Apelt, Alfred C.O. Vertegaal, Martijn S. Luijsterburg, Daniel Flanagan

Publikováno v: Journal of Experimental Medicine, 218(3):e20200622. Rockefeller University Press
Apelt, K, White, S M, Kim, H S, Yeo, J-E, Kragten, A, Wondergem, A P, Rooimans, M A, González-Prieto, R, Wiegant, W W, Lunke, S, Flanagan, D, Pantaleo, S, Quinlan, C, Hardikar, W, van Attikum, H, Vertegaal, A C O, Wilson, B T, Wolthuis, R M F, Schärer, O D & Luijsterburg, M S 2021, ' ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients ', Journal of Experimental Medicine, vol. 218, no. 3, e20200622 . https://doi.org/10.1084/JEM.20200622
The Journal of Experimental Medicine
Journal of Experimental Medicine
Journal of Experimental Medicine, 218(3). ROCKEFELLER UNIV PRESS

Apelt et al. identify patients with inherited ERCC1 mutations that impede DNA damage repair through protein instability and reduced recruitment to DNA repair machineries. Together, this results in a phenotype comprising short stature, photosensitivit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb5c1d2202bb358ead0c79e8d76768c
https://hdl.handle.net/1887/3263777