Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Niels de Wind"'
Autor:
Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen
Publikováno v:
Experimental and Molecular Pathology, Vol 140, Iss , Pp 104940- (2024)
Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains unclear for many variants because of conflicting results between clinical, molecular, and fun
Externí odkaz:
https://doaj.org/article/495ee08f0dc6450c81f1b9f564d08794
Autor:
Sharath Anugula, Zhiquan Li, Yuan Li, Alexander Hendriksen, Peter Bjarn Christensen, Lin Wang, Jonathan M. Monk, Niels de Wind, Vilhelm A. Bohr, Claus Desler, Robert K. Naviaux, Lene Juel Rasmussen
Publikováno v:
Heliyon, Vol 9, Iss 6, Pp e17392- (2023)
Replication stress, caused by Rev1 deficiency, is associated with mitochondrial dysfunction, and metabolic stress. However, the overall metabolic alterations and possible interventions to rescue the deficits due to Rev1 loss remain unclear. Here, we
Externí odkaz:
https://doaj.org/article/c97fbe219a0b4f4aba53cc5c825abbed
Autor:
Peng Song, Shaojun Liu, Dekang Liu, Guido Keijzers, Daniela Bakula, Shunlei Duan, Niels de Wind, Zilu Ye, Sergey Y. Vakhrushev, Morten Scheibye-Knudsen, Lene Juel Rasmussen
Publikováno v:
Cells, Vol 11, Iss 3, p 521 (2022)
DNA mismatch repair (MMR) is a highly conserved pathway that corrects both base–base mispairs and insertion-deletion loops (IDLs) generated during DNA replication. Defects in MMR have been linked to carcinogenesis and drug resistance. However, the
Externí odkaz:
https://doaj.org/article/ee9708c0af6a4ec8b6d76963285d4ab2
Autor:
Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contrib
Externí odkaz:
https://doaj.org/article/9cc3036b8517473a900b9588e8069c13
Autor:
Susanne R Bruekner, Wietske Pieters, Alexander Fish, A Manuel Liaci, Serge Scheffers, Emily Rayner, Daphne Kaldenbach, Lisa Drost, Marleen Dekker, Sandrine van Hees-Stuivenberg, Elly Delzenne-Goette, Charlotte de Konink, Hellen Houlleberghs, Hendrikus Jan Dubbink, Abeer AlSaegh, Niels de Wind, Friedrich Förster, Hein te Riele, Titia K Sixma
Publikováno v:
Nucleic Acids Research, 51(3), 1173-1188. Oxford University Press
Bruekner, S R, Pieters, W, Fish, A, Liaci, A M, Scheffers, S, Rayner, E, Kaldenbach, D, Drost, L, Dekker, M, van Hees-Stuivenberg, S, Delzenne-Goette, E, de Konink, C, Houlleberghs, H, Dubbink, H J, Alsaegh, A, de Wind, N, Förster, F, te Riele, H & Sixma, T K 2023, ' Unexpected moves : a conformational change in MutSα enables high-affinity DNA mismatch binding ', Nucleic Acids Research, vol. 51, no. 3, pp. 1173-1188 . https://doi.org/10.1093/nar/gkad015
Bruekner, S R, Pieters, W, Fish, A, Liaci, A M, Scheffers, S, Rayner, E, Kaldenbach, D, Drost, L, Dekker, M, van Hees-Stuivenberg, S, Delzenne-Goette, E, de Konink, C, Houlleberghs, H, Dubbink, H J, Alsaegh, A, de Wind, N, Förster, F, te Riele, H & Sixma, T K 2023, ' Unexpected moves : a conformational change in MutSα enables high-affinity DNA mismatch binding ', Nucleic Acids Research, vol. 51, no. 3, pp. 1173-1188 . https://doi.org/10.1093/nar/gkad015
The DNA mismatch repair protein MutSα recognizes wrongly incorporated DNA bases and initiates their correction during DNA replication. Dysfunctions in mismatch repair lead to a predisposition to cancer. Here, we study the homozygous mutation V63E in
Autor:
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind
Publikováno v:
Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.
The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to classify most V
Autor:
Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool
Fluorescent In Situ Hybridization of Pole on metaphase spreads of Pole-mutant cell line
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044b4b8295f206f03b8a3dc975cc00e9
https://doi.org/10.1158/1078-0432.22470657
https://doi.org/10.1158/1078-0432.22470657
Autor:
Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool
Sensitivity to nucleoside analogs gemcitabine, cladribine and clofarabine conferred by Pole proofreading domain mutations in a cell-based model
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad10449ec5f10e40ad7485228070f3df
https://doi.org/10.1158/1078-0432.22470630.v1
https://doi.org/10.1158/1078-0432.22470630.v1
Autor:
Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool
Supplementary Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2637e9a03f1e89994544481db9b9c9d9
https://doi.org/10.1158/1078-0432.22470648
https://doi.org/10.1158/1078-0432.22470648
Autor:
Mark Drost, Tjalling Bosse, Niels de Wind, Vincent T.H.B.M. Smit, David N. Church, Ian P.M. Tomlinson, Carien L. Creutzberg, Remi A. Nout, Elisabeth M. Osse, Emily Rayner, Inge C. Van Gool
Purpose: Pathogenic POLE proofreading domain mutations are found in many malignancies where they are associated with ultramutation and favorable prognosis. The extent to which this prognosis depends on their sensitivity to adjuvant treatment is unkno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c0e21cd4a7fb2290586a887ec0348e
https://doi.org/10.1158/1078-0432.c.6527640
https://doi.org/10.1158/1078-0432.c.6527640