Zobrazeno 1 - 10
of 185
pro vyhledávání: '"F. Theil"'
Autor:
Diana A. Llerena Schiffmacher, Shun-Hsiao Lee, Katarzyna W. Kliza, Arjan F. Theil, Masaki Akita, Angela Helfricht, Karel Bezstarosti, Camila Gonzalo-Hansen, Haico van Attikum, Matty Verlaan-de Vries, Alfred C. O. Vertegaal, Jan H. J. Hoeijmakers, Jurgen A. Marteijn, Hannes Lans, Jeroen A. A. Demmers, Michiel Vermeulen, Titia K. Sixma, Tomoo Ogi, Wim Vermeulen, Alex Pines
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Transcription-blocking DNA lesions are specifically targeted by transcription-coupled nucleotide excision repair (TC-NER), which removes a broad spectrum of DNA lesions to preserve transcriptional output and thereby cellular homeostasis to c
Externí odkaz:
https://doaj.org/article/ae22f3558ad948a0bf15ffe295f5314c
Autor:
Alba Muniesa-Vargas, Carlota Davó-Martínez, Cristina Ribeiro-Silva, Melanie van der Woude, Karen L. Thijssen, Ben Haspels, David Häckes, Ülkem U. Kaynak, Roland Kanaar, Jurgen A. Marteijn, Arjan F. Theil, Maayke M. P. Kuijten, Wim Vermeulen, Hannes Lans
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Congenital nucleotide excision repair (NER) deficiency gives rise to several cancer-prone and/or progeroid disorders. It is not understood how defects in the same DNA repair pathway cause different disease features and severity. Here, we sho
Externí odkaz:
https://doaj.org/article/93db3bf48b4e441887ae6a50279dcc97
Autor:
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 11, Pp 1-27 (2023)
Abstract The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD‐associate
Externí odkaz:
https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8b
Autor:
Barbara Steurer, Roel C. Janssens, Marit E. Geijer, Fernando Aprile-Garcia, Bart Geverts, Arjan F. Theil, Barbara Hummel, Martin E. van Royen, Bastiaan Evers, René Bernards, Adriaan B. Houtsmuller, Ritwick Sawarkar, Jurgen Marteijn
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
DNA damage inhibits elongating RNA polymerase II, but also initiates genome-wide transcriptional responses. Here the authors reveal that particularly promoter-bound Pol II is degraded upon DNA damage in a GSK3 signaling-mediated response.
Externí odkaz:
https://doaj.org/article/8ae0ddc4ec8841d3a8a8b7435095a252
Autor:
Namrata Kumar, Arjan F. Theil, Vera Roginskaya, Yasmin Ali, Michael Calderon, Simon C. Watkins, Ryan P. Barnes, Patricia L. Opresko, Alex Pines, Hannes Lans, Wim Vermeulen, Bennett Van Houten
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Nucleotide excision repair proteins are involved in the repair of UV-induced DNA damage. Here, the authors show that NER proteins, DDB2, XPC, and XPA play a vital role in the 8-oxoguanine repair by coordinating with base excision repair protein OGG1.
Externí odkaz:
https://doaj.org/article/677d2112db5041e7bd30b5fcd641a24a
Autor:
Cristina Ribeiro-Silva, Mariangela Sabatella, Angela Helfricht, Jurgen A. Marteijn, Arjan F. Theil, Wim Vermeulen, Hannes Lans
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
DNA damage sensors DDB2 and XPC are fundamental factors to initiate global genome nucleotide excision repair and protect DNA from mutagenesis. Here the authors reveal that ubiquitin and TFIIH-stimulated DDB2 dissociation promotes DNA damage handover
Externí odkaz:
https://doaj.org/article/22a70086ef524db897815d6000e52c4e
Autor:
Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslin
Externí odkaz:
https://doaj.org/article/93c4b2d6ae9b43e6ab30e0d0bb56dc55
Autor:
Amytice Mirchi, Alexa Derksen, Luan T. Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F. Theil, Geneviève Bernard
Publikováno v:
Neurogenetics, 23(4), 271-274. Springer-Verlag
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05b9edab3fd45f39698927ab6c0a5f6
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
https://pure.eur.nl/en/publications/fb0e0138-77c5-4359-9b50-404b096b26cc
Autor:
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Publikováno v:
Pediatric Neurology, 141, 79-86. Elsevier Inc.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. Methods: We ascertained five individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64ad
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
Autor:
Marvin van Toorn, Yasemin Turkyilmaz, Sueji Han, Di Zhou, Hyun-Suk Kim, Irene Salas-Armenteros, Mihyun Kim, Masaki Akita, Franziska Wienholz, Anja Raams, Eunjin Ryu, Sukhyun Kang, Arjan F. Theil, Karel Bezstarosti, Maria Tresini, Giuseppina Giglia-Mari, Jeroen A. Demmers, Orlando D. Schärer, Jun-Hyuk Choi, Wim Vermeulen, Jurgen A. Marteijn
Publikováno v:
Molecular Cell
Molecular Cell, 2022, 82 (7), pp.1343-1358.e8. ⟨10.1016/j.molcel.2022.02.020⟩
Molecular Cell, 82(7), 1343-1358.e8. Cell Press
Mol Cell
Molecular Cell, 2022, 82 (7), pp.1343-1358.e8. ⟨10.1016/j.molcel.2022.02.020⟩
Molecular Cell, 82(7), 1343-1358.e8. Cell Press
Mol Cell
International audience; Nucleotide excision repair (NER) counteracts the onset of cancer and aging by removing helix-distorting DNA lesions via a "cut-and-patch"-type reaction. The regulatory mechanisms that drive NER through its successive damage re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42fa9320b2050be0af7fd2f09dc7ffc
https://doi.org/10.1016/j.molcel.2022.02.020
https://doi.org/10.1016/j.molcel.2022.02.020