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PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC. van de Beek I, et al. Among authors: glykofridis ie. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 Free PMC article.
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
van de Beek I, Glykofridis IE, Wagner A, den Toom DT, Bongers EMHF, van Leenders GJLH, Johannesma PC, Meijers-Heijboer HEJ, Wolthuis RMF, van Steensel MAM, Dubbink HJ, Houweling AC. van de Beek I, et al. Among authors: glykofridis ie. Mol Genet Genomic Med. 2023 Feb;11(2):e2098. doi: 10.1002/mgg3.2098. Epub 2022 Nov 16. Mol Genet Genomic Med. 2023. PMID: 36382415 Free PMC article.
Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. Glykofridis IE, et al. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. Among authors: glykofridis ie. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954