Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells

Autor: Iris E Glykofridis, Jaco C Knol, Jesper A Balk, Denise Westland, Thang V Pham, Sander R Piersma, Sinéad M Lougheed, Sepide Derakhshan, Puck Veen, Martin A Rooimans, Saskia E van Mil, Franziska Böttger, Pino J Poddighe, Irma van de Beek, Jarno Drost, Fried JT Zwartkruis, Renee X de Menezes, Hanne EJ Meijers-Heijboer, Arjan C Houweling, Connie R Jimenez, Rob MF Wolthuis

Publikováno v: eLife, Vol 10 (2021)

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. FLCN is a conserved, essential gene linked to diverse cellular proc

Externí odkaz: https://doaj.org/article/afeb46d1c35540eaa522d75e244c66bd

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

Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair

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

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

Genomic landscape of retinoblastoma in Rb

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

Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes

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

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