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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: wolthuis rmf. Nucleic Acids Res. 2023 Oct 13;51(18):9594-9609. doi: 10.1093/nar/gkad756. Nucleic Acids Res. 2023. PMID: 37702151 Free PMC article.
Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma.
Pai G, Roohollahi K, Rockx D, de Jong Y, Stoepker C, Pennings C, Rooimans M, Vriend L, Piersma S, Jimenez CR, De Menezes RX, Van Beusechem VW, Brakenhoff RH, Te Riele H, Wolthuis RMF, Dorsman JC. Pai G, et al. Among authors: wolthuis rmf. Commun Biol. 2023 Jan 13;6(1):37. doi: 10.1038/s42003-022-04389-3. Commun Biol. 2023. PMID: 36639418 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: wolthuis rmf. 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.
Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al.
van Riel L, Jansen PR, Boerrigter BG, van Moorselaar RJA, van Haelst MM, Wolthuis RMF, van de Beek I, Houweling AC. van Riel L, et al. Among authors: wolthuis rmf. Genet Med. 2023 Jan;25(1):158-160. doi: 10.1016/j.gim.2022.08.033. Epub 2022 Nov 16. Genet Med. 2023. PMID: 36383210 Free article. No abstract available.
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: wolthuis rmf. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 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: wolthuis rmf. 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
Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.
van Riel L, van Hulst RA, van Hest L, van Moorselaar R, Boerrigter BG, Franken SM, Wolthuis R, Dubbink HJ, Marciniak SJ, Gupta N, van de Beek I, Houweling AC. van Riel L, et al. Among authors: wolthuis r. Expert Rev Respir Med. 2023 Jul-Dec;17(11):1003-1008. doi: 10.1080/17476348.2023.2284375. Epub 2023 Dec 26. Expert Rev Respir Med. 2023. PMID: 37991821 Free PMC article. Review.
44 results