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CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin.
van Schie JJM, de Lint K, Molenaar TM, Moronta Gines M, Balk JA, Rooimans MA, Roohollahi K, Pai GM, Borghuis L, Ramadhin AR, Corazza F, Dorsman JC, Wendt KS, Wolthuis RMF, de Lange J. van Schie JJM, et al. Among authors: balk ja. Nucleic Acids Res. 2023 Oct 13;51(18):9594-9609. doi: 10.1093/nar/gkad756. Nucleic Acids Res. 2023. PMID: 37702151 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: balk ja. 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
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: balk ja. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 Free PMC article.
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D, Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis RMF, Jimenez CR. Glykofridis IE, et al. Among authors: balk ja. Mol Cell Proteomics. 2022 Sep;21(9):100263. doi: 10.1016/j.mcpro.2022.100263. Epub 2022 Jul 19. Mol Cell Proteomics. 2022. PMID: 35863698 Free PMC article.
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J. Carvalhal S, et al. Among authors: balk ja. Sci Adv. 2022 Jan 21;8(3):eabk0114. doi: 10.1126/sciadv.abk0114. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044816 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. Among authors: balk ja. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM, Faramarz A, Balk JA, Stewart GS, Cantelli E, Oostra AB, Rooimans MA, Parish JL, de Almeida Estéves C, Dumic K, Barisic I, Diderich KEM, van Slegtenhorst MA, Mahtab M, Pisani FM, Te Riele H, Ameziane N, Wolthuis RMF, de Lange J. van Schie JJM, et al. Among authors: balk ja. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
Defects in the Fanconi Anemia Pathway and Chromatid Cohesion in Head and Neck Cancer.
Stoepker C, Ameziane N, van der Lelij P, Kooi IE, Oostra AB, Rooimans MA, van Mil SE, Brink A, Dietrich R, Balk JA, Ylstra B, Joenje H, Feller SM, Brakenhoff RH. Stoepker C, et al. Among authors: balk ja. Cancer Res. 2015 Sep 1;75(17):3543-53. doi: 10.1158/0008-5472.CAN-15-0528. Epub 2015 Jun 29. Cancer Res. 2015. PMID: 26122845
15 results