Výsledky vyhledávání - "Rob M F Wolthuis"

Akademický článek

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Polo-like kinase-1 controls Aurora A destruction by activating APC/C-Cdh1.

Autor: Renske van Leuken, Linda Clijsters, Wouter van Zon, Dan Lim, XueBiao Yao, Rob M F Wolthuis, Michael B Yaffe, René H Medema, Marcel A T M van Vugt

Publikováno v: PLoS ONE, Vol 4, Iss 4, p e5282 (2009)

Polo-like kinase-1 (Plk1) is activated before mitosis by Aurora A and its cofactor Bora. In mitosis, Bora is degraded in a manner dependent on Plk1 kinase activity and the E3 ubiquitin ligase SCF-betaTrCP. Here, we show that Plk1 is also required for

Externí odkaz: https://doaj.org/article/5bdd7095f17b43e5addb2cbe505d25b1

Zobrazit plný text záznamu

Akademický článek

Cyclin B1-Cdk1 activation continues after centrosome separation to control mitotic progression.

Autor: Arne Lindqvist, Wouter van Zon, Christina Karlsson Rosenthal, Rob M F Wolthuis

Publikováno v: PLoS Biology, Vol 5, Iss 5, p e123 (2007)

Activation of cyclin B1-cyclin-dependent kinase 1 (Cdk1), triggered by a positive feedback loop at the end of G2, is the key event that initiates mitotic entry. In metaphase, anaphase-promoting complex/cyclosome-dependent destruction of cyclin B1 ina

Externí odkaz: https://doaj.org/article/feffe305d0a946218115ba6a77e14554

Zobrazit plný text záznamu

Akademický článek

ShrinkCRISPR: a flexible method for differential fitness analysis of CRISPR-Cas9 screen data

Autor: Renaud L. M. Tissier, Janne J. M. van Schie, Rob M. F. Wolthuis, Job de Lange, Renée de Menezes

Publikováno v: BMC Bioinformatics, Vol 24, Iss 1, Pp 1-21 (2023)

Abstract Background CRISPR screens provide large-scale assessment of cellular gene functions. Pooled libraries typically consist of several single guide RNAs (sgRNAs) per gene, for a large number of genes, which are transduced in such a way that ever

Externí odkaz: https://doaj.org/article/aae7e52e22ba42efa7783aa38dc7a984

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma

Autor: Govind Pai, Khashayar Roohollahi, Davy Rockx, Yvonne de Jong, Chantal Stoepker, Charlotte Pennings, Martin Rooimans, Lianne Vriend, Sander Piersma, Connie R. Jimenez, Renee X. De Menezes, Victor W. Van Beusechem, Ruud H. Brakenhoff, Hein Te Riele, Rob M. F. Wolthuis, Josephine C. Dorsman

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)

A genome-wide siRNA screen on patient-derived Fanconi anemia pathway-deficient head-and-neck squamous-cell-carcinoma (HNSCC) cell lines identifies RBBP9 as a candidate therapeutic target.

Externí odkaz: https://doaj.org/article/d4abaadf82fc4ce89a966aaa06a906bf

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

Autor: Irma van deBeek, Iris E. Glykofridis, Anja Wagner, Dorine T. denToom, Ernie M. H. F. Bongers, Geert J. L. H. vanLeenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. vanSteensel, Hendrikus J. Dubbink, Arjan C. Houweling

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)

Abstract Background We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in a

Externí odkaz: https://doaj.org/article/a9c2044213784ddca0ff837106d44238

Zobrazit plný text záznamu

Plný text ve formátu HTML

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis

Autor: Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling

Publikováno v: van de Beek, I, Glykofridis, I E, Oosterwijk, J C, van den Akker, P C, Diercks, G F H, Bolling, M C, Waisfisz, Q, Mensenkamp, A R, Balk, J A, Zwart, R, Postma, A V, Meijers-Heijboer, H E J, van Moorselaar, R J A, Wolthuis, R M F & Houweling, A C 2023, ' PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis ', Human Molecular Genetics, vol. 32, no. 7, pp. 1223-1235 . https://doi.org/10.1093/hmg/ddac288
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235

Contains fulltext : 291515.pdf (Publisher’s version ) (Open Access) Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bee29415900ea2982a28cc3469f7db
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091

Zobrazit plný text záznamu

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Autor: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz

Publikováno v: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group

Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2dc04d649ec5fe2082f5e11c601c87
http://www.scopus.com/inward/record.url?scp=85145610461&partnerID=8YFLogxK

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání