Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
Beek, Irma, Glykofridis, Iris E., Wagner, Anja, Toom, Dorine T., Bongers, Ernie M. H. F., Leenders, Geert J. L. H., Johannesma, Paul C., Meijers‐Heijboer, Hanne E. J., Wolthuis, Rob M. F., Steensel, Maurice A. M., Dubbink, Hendrikus J., Houweling, Arjan C.
Published in Molecular genetics & genomic medicine (01.02.2023)
Published in Molecular genetics & genomic medicine (01.02.2023)
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Journal Article
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis
van de Beek, Irma, Glykofridis, Iris E, Oosterwijk, Jan C, van den Akker, Peter C, Diercks, Gilles F H, Bolling, Maria C, Waisfisz, Quinten, Mensenkamp, Arjen R, Balk, Jesper A, Zwart, Rob, Postma, Alex V, Meijers-Heijboer, Hanne E J, van Moorselaar, R Jeroen A, Wolthuis, Rob M F, Houweling, Arjan C
Published in Human molecular genetics (20.03.2023)
Published in Human molecular genetics (20.03.2023)
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Journal Article
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines
Glykofridis, Iris E., Henneman, Alex A., Balk, Jesper A., Goeij-de Haas, Richard, Westland, Denise, Piersma, Sander R., Knol, Jaco C., Pham, Thang V., Boekhout, Michiel, Zwartkruis, Fried J.T., Wolthuis, Rob M.F., Jimenez, Connie R.
Published in Molecular & cellular proteomics (01.09.2022)
Published in Molecular & cellular proteomics (01.09.2022)
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Journal Article
No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome
van de Beek, Irma, Glykofridis, Iris E., Wolthuis, Rob M. F., Gille, Hans J. J. P., Johannesma, Paul C., Meijers-Heijboer, Hanne E. J., Moorselaar, R. Jeroen A. van, Houweling, Arjan C.
Published in British journal of cancer (01.02.2020)
Published in British journal of cancer (01.02.2020)
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Journal Article
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten
Published in Journal of human genetics (01.04.2023)
Published in Journal of human genetics (01.04.2023)
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Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells
Glykofridis, Iris E, Knol, Jaco C, Balk, Jesper A, Westland, Denise, Pham, Thang V, Piersma, Sander R, Lougheed, Sinéad M, Derakhshan, Sepide, Veen, Puck, Rooimans, Martin A, van Mil, Saskia E, Böttger, Franziska, Poddighe, Pino J, van de Beek, Irma, Drost, Jarno, Zwartkruis, Fried Jt, de Menezes, Renee X, Meijers-Heijboer, Hanne Ej, Houweling, Arjan C, Jimenez, Connie R, Wolthuis, Rob Mf
Published in eLife (18.01.2021)
Published in eLife (18.01.2021)
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