Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Arjan F Theil"'
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 n/a-n/a (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:
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:
Arjan F Theil, Julie Nonnekens, Barbara Steurer, Pierre-Olivier Mari, Jan de Wit, Charlène Lemaitre, Jurgen A Marteijn, Anja Raams, Alex Maas, Marcel Vermeij, Jeroen Essers, Jan H J Hoeijmakers, Giuseppina Giglia-Mari, Wim Vermeulen
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003431 (2013)
The ten-subunit transcription factor IIH (TFIIH) plays a crucial role in transcription and nucleotide excision repair (NER). Inactivating mutations in the smallest 8-kDa TFB5/TTDA subunit cause the neurodevelopmental progeroid repair syndrome trichot
Externí odkaz:
https://doaj.org/article/7d60226eb215453780f9c39c8c311231
Autor:
Anwaar Ahmad, Jacqueline H Enzlin, Nikhil R Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F Theil, Jan H J Hoeijmakers, Wim Vermeulen, Nicolaas G J Jaspers, Orlando D Schärer, Laura J Niedernhofer
Publikováno v:
PLoS Genetics, Vol 6, Iss 3, p e1000871 (2010)
Xeroderma pigmentosum (XP) is caused by defects in the nucleotide excision repair (NER) pathway. NER removes helix-distorting DNA lesions, such as UV-induced photodimers, from the genome. Patients suffering from XP exhibit exquisite sun sensitivity,
Externí odkaz:
https://doaj.org/article/23d8c4741f94406fa1db9037dc83848e
Autor:
Giuseppina Giglia-Mari, Arjan F Theil, Pierre-Olivier Mari, Sophie Mourgues, Julie Nonnekens, Lise O Andrieux, Jan de Wit, Catherine Miquel, Nils Wijgers, Alex Maas, Maria Fousteri, Jan H J Hoeijmakers, Wim Vermeulen
Publikováno v:
PLoS Biology, Vol 7, Iss 10, p e1000220 (2009)
Studies based on cell-free systems and on in vitro-cultured living cells support the concept that many cellular processes, such as transcription initiation, are highly dynamic: individual proteins stochastically bind to their substrates and disassemb
Externí odkaz:
https://doaj.org/article/160090cf6284440485cf525de1a43c07
Autor:
Giuseppina Giglia-Mari, Catherine Miquel, Arjan F Theil, Pierre-Olivier Mari, Deborah Hoogstraten, Jessica M Y Ng, Christoffel Dinant, Jan H J Hoeijmakers, Wim Vermeulen
Publikováno v:
PLoS Biology, Vol 4, Iss 6, p e156 (2006)
Transcription/repair factor IIH (TFIIH) is essential for RNA polymerase II transcription and nucleotide excision repair (NER). This multi-subunit complex consists of ten polypeptides, including the recently identified small 8-kDa trichothiodystrophy
Externí odkaz:
https://doaj.org/article/9b5cec00a6f2471d8895e60b61883ddf
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
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
Autor:
Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers
Publikováno v:
Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms exhibits in