Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Saskia E. van Mil"'
Autor:
Khashayar Roohollahi, MSc, Yvonne de Jong, PhD, Saskia E. van Mil, MSc, Armida W.M. Fabius, PhD, Annette C. Moll, MD, PhD, Josephine C. Dorsman, PhD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 3, Pp 100188- (2022)
Purpose: Retinoblastomas are malignant eye tumors diagnosed in young children. Most retinoblastomas are genetically characterized by biallelic inactivation of the RB1 gene. However, 1.5% of tumors demonstrate high-level amplification of the proto-onc
Externí odkaz:
https://doaj.org/article/36815c91e88c45a296a9cb8c60f24a20
Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression
Autor:
Irsan E. Kooi, Berber M. Mol, Annette C. Moll, Paul van der Valk, Marcus C. de Jong, Pim de Graaf, Saskia E. van Mil, Antoinette Y.N. Schouten-van Meeteren, Hanne Meijers-Heijboer, Gertjan L. Kaspers, Hein te Riele, Jacqueline Cloos, Josephine C. Dorsman
Publikováno v:
EBioMedicine, Vol 2, Iss 7, Pp 660-670 (2015)
Background: Retinoblastoma is a pediatric eye cancer associated with RB1 loss or MYCN amplification (RB1+/+MYCNA). There are controversies concerning the existence of molecular subtypes within RB1−/− retinoblastoma. To test whether these molecula
Externí odkaz:
https://doaj.org/article/db54bfbc068f4183bfb31b53cfcb3035
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:
Khashayar, Roohollahi, Yvonne, de Jong, Saskia E, van Mil, Armida W M, Fabius, Annette C, Moll, Josephine C, Dorsman
Publikováno v:
Ophthalmology science. 2(3)
Retinoblastomas are malignant eye tumors diagnosed in young children. Most retinoblastomas are genetically characterized by biallelic inactivation of theCohort study.Forty-seven retinoblastoma tumors, comprising 36Integrated analysis, based on gene e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c143cfd30285b4f59032f26ab17133a4
https://pubmed.ncbi.nlm.nih.gov/36245757
https://pubmed.ncbi.nlm.nih.gov/36245757
Autor:
Georgina Alexantya, Joey Riepsaame, Josephine C. Dorsman, Rob M. F. Wolthuis, Rahmen Bin Ali, Tim Harmsen, Yne de Vries, Ivo J. Huijbers, Hein te Riele, Saskia E. van Mil, Henri J van de Vrugt
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports
van de Vrugt, H J, Harmsen, T, Riepsaame, J, Alexantya, G, van Mil, S E, de Vries, Y, Bin Ali, R, Huijbers, I J, Dorsman, J C, Wolthuis, R M F & te Riele, H 2019, ' Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair ', Scientific Reports, vol. 9, no. 1, 768 . https://doi.org/10.1038/s41598-018-36506-w
Scientific Reports, 9(1):768. Nature Publishing Group
Scientific Reports
van de Vrugt, H J, Harmsen, T, Riepsaame, J, Alexantya, G, van Mil, S E, de Vries, Y, Bin Ali, R, Huijbers, I J, Dorsman, J C, Wolthuis, R M F & te Riele, H 2019, ' Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair ', Scientific Reports, vol. 9, no. 1, 768 . https://doi.org/10.1038/s41598-018-36506-w
Scientific Reports, 9(1):768. Nature Publishing Group
Fanconi anemia (FA) is a cancer predisposition syndrome characterized by congenital abnormalities, bone marrow failure, and hypersensitivity to aldehydes and crosslinking agents. For FA patients, gene editing holds promise for therapeutic application
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9baca3f6229ec55854905ae120850500
http://link.springer.com/article/10.1038/s41598-018-36506-w
http://link.springer.com/article/10.1038/s41598-018-36506-w
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c318dc7a734f524573728d55ffea5d63
https://elifesciences.org/articles/61630
https://elifesciences.org/articles/61630
Autor:
Josephine C. Dorsman, Gertjan J.L. Kaspers, Saskia E. van Mil, Jacqueline Cloos, Berber M. Mol, David MacPherson, Annette C. Moll, Hanne Meijers-Heijboer, Irsan E. Kooi, Hein te Riele
Publikováno v:
Genes, Chromosomes and Cancer. 56:231-242
Several murine retinoblastoma models have been generated by deleting the genes encoding for retinoblastoma susceptibility protein pRb and one of its family members p107 or p130. In Rb-/- p107-/- retinoblastomas, somatic copy number alterations (SCNAs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94e8ad957eb4212854804e565137a9f6
https://doi.org/10.1002/gcc.22429
https://doi.org/10.1002/gcc.22429
Autor:
Irsan E, Kooi, Saskia E, van Mil, David, MacPherson, Berber M, Mol, Annette C, Moll, Hanne, Meijers-Heijboer, Gertjan J L, Kaspers, Jacqueline, Cloos, Hein, Te Riele, Josephine C, Dorsman
Publikováno v:
Genes, chromosomescancer. 56(3)
Several murine retinoblastoma models have been generated by deleting the genes encoding for retinoblastoma susceptibility protein pRb and one of its family members p107 or p130. In Rb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88a7dadd790c178445a1067b9ce8fc09
https://pubmed.ncbi.nlm.nih.gov/27750399
https://pubmed.ncbi.nlm.nih.gov/27750399
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
Autor:
Gertjan J.L. Kaspers, Charlotte J. Dommering, Annette C. Moll, Annemarie H. van der Hout, Najim Ameziane, Saskia E. van Mil, Josephine C. Dorsman, Yne de Vries, Jacqueline Cloos, Hanne Meijers-Heijboer, Hein te Riele, Maarten P.G. Massink, Berber M. Mol, Irsan E. Kooi
Publikováno v:
Scientific Reports
Kooi, I E, Mol, B M, Massink, M P G, Ameziane, N, Meijers-Heijboer, H, Dommering, C J, van Mil, S E, de Vries, Y, van der Hout, A H, Kaspers, G J L, Moll, A C, te Riele, H, Cloos, J & Dorsman, J C 2016, ' Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes ', Scientific Reports, vol. 6 . https://doi.org/10.1038/srep25264
Scientific Reports, 6:25264. Nature Publishing Group
Scientific Reports, 6. Nature Publishing Group
Kooi, I E, Mol, B M, Massink, M P G, Ameziane, N, Meijers-Heijboer, H, Dommering, C J, van Mil, S E, de Vries, Y, van der Hout, A H, Kaspers, G J L, Moll, A C, te Riele, H, Cloos, J & Dorsman, J C 2016, ' Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes ', Scientific Reports, vol. 6 . https://doi.org/10.1038/srep25264
Scientific Reports, 6:25264. Nature Publishing Group
Scientific Reports, 6. Nature Publishing Group
Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotide variants is very limited. To better understand oncog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7fd3e3b000531f75dee7970e41e6bc8
http://europepmc.org/articles/PMC4850475
http://europepmc.org/articles/PMC4850475
Autor:
Bauke Ylstra, Daphne M. van Beek, Maarten P.G. Massink, John W.M. Martens, Ewald van Dyk, Hanne Meijers-Heijboer, Ans M.W. van den Ouweland, Irsan E. Kooi, John A. Foekens, Carolien H.M. van Deurzen, Saskia E. van Mil, Josephine C. Dorsman, Anieta M. Sieuwerts, Daoud Sie, Ekaterina S. Jordanova, J. Patrick van der Voorn, Quinten Waisfisz, Vanja de Weerd, Marcel Smid, Najim Ameziane, Petra M. Nederlof
Publikováno v:
Molecular oncology, 9(4), 877-888. Elsevier
Molecular Oncology, 9(4), 877-888. John Wiley & Sons Ltd.
Massink, M P G, Kooi, E I, van Mil, S E, Jordanova, E S, Ameziane, N, Dorsman, J C, van Beek, D M, van der Voorn, J P, Sie, D L S, Ylstra, B, van Deurzen, C L H M, Martens, J W, Smid, M, Sieuwerts, A M, de Weerd, V, Foekens, J A, van den Ouweland, A M W, van Dyk, E, Nederlof, P M, Waisfisz, Q & Meijers-Heijboer, H 2015, ' Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes ', Molecular oncology, vol. 9, no. 4, pp. 877-888 . https://doi.org/10.1016/j.molonc.2014.12.012
Molecular Oncology, 9(4), 877-888. John Wiley & Sons Ltd.
Massink, M P G, Kooi, E I, van Mil, S E, Jordanova, E S, Ameziane, N, Dorsman, J C, van Beek, D M, van der Voorn, J P, Sie, D L S, Ylstra, B, van Deurzen, C L H M, Martens, J W, Smid, M, Sieuwerts, A M, de Weerd, V, Foekens, J A, van den Ouweland, A M W, van Dyk, E, Nederlof, P M, Waisfisz, Q & Meijers-Heijboer, H 2015, ' Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes ', Molecular oncology, vol. 9, no. 4, pp. 877-888 . https://doi.org/10.1016/j.molonc.2014.12.012
Introduction: BRCA1-mutated breast carcinomas may have distinct biological features, suggesting the involvement of specific oncogenic pathways in tumor development. The identification of genomic aberrations characteristic for BRCA1-mutated breast car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f482c2c213d2f78b9e25169f34ba06
https://pure.amc.nl/en/publications/proper-genomic-profiling-of-brca1mutated-basallike-breast-carcinomas-requires-prior-removal-of-tumor-infiltrating-lymphocytes(0a6098db-e8b5-4792-bdf4-e4b7eb20de71).html
https://pure.amc.nl/en/publications/proper-genomic-profiling-of-brca1mutated-basallike-breast-carcinomas-requires-prior-removal-of-tumor-infiltrating-lymphocytes(0a6098db-e8b5-4792-bdf4-e4b7eb20de71).html