Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Rob M.F. Wolthuis"'
Autor:
Kavish A.V. Kohabir, Lars O. Nooi, Arjen Brink, Ruud H. Brakenhoff, Erik A. Sistermans, Rob M.F. Wolthuis
Publikováno v:
Kohabir, KAV, Nooi, L, Brink, A, Brakenhoff, RH, Sistermans, EA & Wolthuis, RMF 2023, ' In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region ', The CRISPR Journal, vol. 6, no. 2, pp. 127-139 . https://doi.org/10.1089/crispr.2022.0077
The CRISPR Journal, 6(2), 127-139. Mary Ann Liebert Inc.
The CRISPR Journal, 6(2), 127-139. Mary Ann Liebert Inc.
Cost-effective and time-efficient detection of oncogenic mutations supports improved presymptomatic cancer diagnostics and post-treatment disease monitoring. Clustered regularly interspaced short palindromic repeats (CRISPR)-Cas12a is an RNA-guided e
Autor:
Lore van Riel, Philip R. Jansen, Bart G. Boerrigter, R. Jeroen A. van Moorselaar, Mieke M. van Haelst, Rob M.F. Wolthuis, Irma van de Beek, Arjan C. Houweling
Publikováno v:
Genetics in Medicine, 25(1), 158-160. Lippincott Williams and Wilkins
Genetics in medicine, 25(1), 158-160. Lippincott Williams and Wilkins
van Riel, L, Jansen, P R, Boerrigter, B G, van Moorselaar, R J A, van Haelst, M M, Wolthuis, R M F, van de Beek, I & Houweling, A C 2023, ' Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al ', Genetics in Medicine, vol. 25, no. 1, pp. 158-160 . https://doi.org/10.1016/j.gim.2022.08.033
Genetics in medicine, 25(1), 158-160. Lippincott Williams and Wilkins
van Riel, L, Jansen, P R, Boerrigter, B G, van Moorselaar, R J A, van Haelst, M M, Wolthuis, R M F, van de Beek, I & Houweling, A C 2023, ' Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al ', Genetics in Medicine, vol. 25, no. 1, pp. 158-160 . https://doi.org/10.1016/j.gim.2022.08.033
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e801a411e0355514049c3a20c80e3bf7
https://research.vumc.nl/en/publications/bdee3bed-8058-441e-9215-a2bf71ff0bfc
https://research.vumc.nl/en/publications/bdee3bed-8058-441e-9215-a2bf71ff0bfc
Autor:
Janne J.M. van Schie, Klaas de Lint, Thom M. Molenaar, Macarena Moronta Gines, Jesper A. Balk, Martin A. Rooimans, Khashayar Roohollahi, Govind M. Pai, Lauri Borghuis, Anisha R. Ramadhin, Josephine C. Dorsman, Kerstin S. Wendt, Rob M.F. Wolthuis, Job de Lange
The cohesin complex regulates higher order chromosome architecture through maintaining sister chromatid cohesion and folding chromatin by active DNA loop extrusion. Impaired cohesin function underlies a heterogeneous group of genetic syndromes and is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c6e041a48df0e13e5f4d4f39f963111
https://doi.org/10.1101/2022.12.23.521474
https://doi.org/10.1101/2022.12.23.521474
Autor:
Iris E. Glykofridis, Alex A. Henneman, Jesper A. Balk, Richard Goeij-de Haas, Denise Westland, Sander R. Piersma, Jaco C. Knol, Thang V. Pham, Michiel Boekhout, Fried J.T. Zwartkruis, Rob M.F. Wolthuis, Connie R. Jimenez
Publikováno v:
Molecular and Cellular Proteomics, 21(9):100263. American Society for Biochemistry and Molecular Biology Inc.
Glykofridis, I E, Henneman, A A, Balk, J A, Haas, R G-D, Westland, D, Piersma, S R, Knol, J C, Pham, T V, Boekhout, M, Zwartkruis, F J T, Wolthuis, R M F & Jimenez, C R 2022, ' Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines ', Molecular and Cellular Proteomics, vol. 21, no. 9, 100263 . https://doi.org/10.1016/j.mcpro.2022.100263
Glykofridis, I E, Henneman, A A, Balk, J A, Haas, R G-D, Westland, D, Piersma, S R, Knol, J C, Pham, T V, Boekhout, M, Zwartkruis, F J T, Wolthuis, R M F & Jimenez, C R 2022, ' Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines ', Molecular and Cellular Proteomics, vol. 21, no. 9, 100263 . https://doi.org/10.1016/j.mcpro.2022.100263
In Birt–Hogg–Dubé (BHD) syndrome, germline loss-of-function mutations in the Folliculin (FLCN) gene lead to an increased risk of renal cancer. To address how FLCN inactivation affects cellular kinase signaling pathways, we analyzed comprehensive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b908ef344a0b2797fe5f7a36d8e4b7
https://research.vumc.nl/en/publications/faabaa8c-6e5c-4216-84b1-79771870307d
https://research.vumc.nl/en/publications/faabaa8c-6e5c-4216-84b1-79771870307d
Autor:
Iris E. Glykofridis, Irma van de Beek, Wim Vos, Pim C. Kortman, Paul van de Valk, Raimundo Freire, Arjan C. Houweling, Rob M.F. Wolthuis
Germline inactivating mutations in folliculin (FLCN) cause Birt–Hogg–Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing to kidney tumors. Kidney tumors associated with BHD typically lack FLCN expression due to loss of heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b053e324f0b42f976e7f82c0fa00931
https://doi.org/10.1101/2022.06.01.494402
https://doi.org/10.1101/2022.06.01.494402
Autor:
van de Beek, Irma1 (AUTHOR), Glykofridis, Iris E.2 (AUTHOR), Wagner, Anja3 (AUTHOR), den Toom, Dorine T.4 (AUTHOR), Bongers, Ernie M. H. F.5 (AUTHOR), van Leenders, Geert J. L. H.4 (AUTHOR), Johannesma, Paul C.6 (AUTHOR), Meijers‐Heijboer, Hanne E. J.1 (AUTHOR), Wolthuis, Rob M. F.2 (AUTHOR), van Steensel, Maurice A. M.7,8 (AUTHOR), Dubbink, Hendrikus J.4 (AUTHOR), Houweling, Arjan C.1 (AUTHOR) a.houweling@amsterdamumc.nl
Publikováno v:
Molecular Genetics & Genomic Medicine. Feb2023, Vol. 11 Issue 2, p1-10. 10p.
Autor:
Voets, Erik, Wolthuis, Rob M. F.
Publikováno v:
Cell Cycle; Sep2010, Vol. 9 Issue 17, p3591-3601, 11p