Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Jesper A. Balk"'
Autor:
Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk, Grant S. Stewart, Erika Cantelli, Anneke B. Oostra, Martin A. Rooimans, Joanna L. Parish, Cynthia de Almeida Estéves, Katja Dumic, Ingeborg Barisic, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mohammad Mahtab, Francesca M. Pisani, Hein te Riele, Najim Ameziane, Rob M. F. Wolthuis, Job de Lange
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
WABS patient derived cells display loss of sister chromatid cohesion. Here the authors by analyzing WABS patient derived cells, reveal a role of the DDX11 helicase in resolving G-Quadruplex structures to support sister chromatid cohesion.
Externí odkaz:
https://doaj.org/article/d1dd653aad8b4232927aa9fceeb46e31
Publikováno v:
Emerging Infectious Diseases, Vol 17, Iss 5, Pp 936-938 (2011)
Externí odkaz:
https://doaj.org/article/125f77d198b54416955cfe9c8ab3f787
Autor:
Ruud H. Brakenhoff, Stephan M. Feller, Hans Joenje, Bauke Ylstra, Jesper A. Balk, Ralf Dietrich, Arjen Brink, Saskia E. van Mil, Martin A. Rooimans, Anneke B. Oostra, Irsan E. Kooi, Petra van der Lelij, Najim Ameziane, Chantal Stoepker
Supplemental Material and Methods. Supplemental Figure S1. Cell cycle analysis in FA and sporadic HNSCC cell lines upon ICL treatment. Supplemental Figure S2. FANCM protein expression is absent in FaDu cells. Supplemental Figure S3. Overview of possi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3787e8371329b3552a21a7e7c61e5949
https://doi.org/10.1158/0008-5472.22405466
https://doi.org/10.1158/0008-5472.22405466
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
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
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
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
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
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:
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:
Journal of human genetics.
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
Autor:
Sara, Carvalhal, Ingrid, Bader, Martin A, Rooimans, Anneke B, Oostra, Jesper A, Balk, René G, Feichtinger, Christine, Beichler, Michael R, Speicher, Johanna M, van Hagen, Quinten, Waisfisz, Mieke, van Haelst, Martijn, Bruijn, Alexandra, Tavares, Johannes A, Mayr, Rob M F, Wolthuis, Raquel A, Oliveira, Job, de Lange
Publikováno v:
Science Advances
Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-speci
Autor:
Sepide Derakhshan, Saskia E. van Mil, Arjan C. Houweling, Puck Veen, Irma van de Beek, Iris E. Glykofridis, Jaco C. Knol, Jesper A. Balk, Rob M. F. Wolthuis, Thang V. Pham, Martin A. Rooimans, Pino J Poddighe, Jarno Drost, Franziska Böttger, Sander R. Piersma, Fried J. T. Zwartkruis, Denise Westland, Sinéad M. Lougheed, Hanne Meijers-Heijboer, Renee X. de Menezes, Connie R. Jimenez
Publikováno v:
eLife, Vol 10 (2021)
Glykofridis, I E, Knol, J C, Balk, J A, Westland, D, Pham, T V, Piersma, S R, Lougheed, S M, Derakhshan, S, Veen, P, Rooimans, M A, van Mil, S E, Böttger, F, Poddighe, P J, van de Beek, I, Drost, J, Zwartkruis, F J T, de Menezes, R X, Meijers-Heijboer, H E J, Houweling, A C, Jimenez, C R & Wolthuis, R M F 2021, ' Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells ', eLife, vol. 10, e61630, pp. 1-71 . https://doi.org/10.7554/eLife.61630
eLife, 10:e61630, 1-71. eLife Sciences Publications Limited
eLife
eLife, 10:e61630, 1-71. eLife Sciences Publications
Glykofridis, I E, Knol, J C, Balk, J A, Westland, D, Pham, T V, Piersma, S R, Lougheed, S M, Derakhshan, S, Veen, P, Rooimans, M A, van Mil, S E, Böttger, F, Poddighe, P J, van de Beek, I, Drost, J, Zwartkruis, F J T, de Menezes, R X, Meijers-Heijboer, H E J, Houweling, A C, Jimenez, C R & Wolthuis, R M F 2021, ' Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells ', eLife, vol. 10, e61630, pp. 1-71 . https://doi.org/10.7554/eLife.61630
eLife, 10:e61630, 1-71. eLife Sciences Publications Limited
eLife
eLife, 10:e61630, 1-71. eLife Sciences Publications
Germline mutations in the Folliculin (FLCN) tumor suppressor gene cause Birt–Hogg–Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing carriers to kidney tumors.FLCNis a conserved, essential gene linked to diverse cellular proces