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PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.
Madsen MS, Broekema MF, Madsen MR, Koppen A, Borgman A, Gräwe C, Thomsen EGK, Westland D, Kranendonk MEG, Koerkamp MG, Hamers N, Bonvin AMJJ, Pittol JMR, Natarajan KN, Kersten S, Holstege FCP, Monajemi H, van Mil SWC, Vermeulen M, Kragelund BB, Cassiman D, Mandrup S, Kalkhoven E. Madsen MS, et al. Among authors: broekema mf. Nat Commun. 2022 Nov 19;13(1):7090. doi: 10.1038/s41467-022-34766-9. Nat Commun. 2022. PMID: 36402763 Free PMC article.
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Schreurs MAC, Schmidt MK, Hollestelle A, Schaapveld M; Hereditary Breast and Ovarian Cancer Research Group Netherlands; van Asperen CJ, Ausems MGEM, van de Beek I, Broekema MF, Collée JM, van der Hout AH, van Kaam KJAF, Komdeur FL, Mensenkamp AR, Adank MA, Hooning M. Schreurs MAC, et al. Among authors: broekema mf. Genet Med. 2024 May 31:101171. doi: 10.1016/j.gim.2024.101171. Online ahead of print. Genet Med. 2024. PMID: 38828701
Prospective functional classification of all possible missense variants in PPARG.
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S; UK Monogenic Diabetes Consortium; Kathiresan S; Myocardial Infarction Genetics Consortium; O'Rahilly S; UK Congenital Lipodystrophy Consortium; Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. Majithia AR, et al. Among authors: broekema mf. Nat Genet. 2016 Dec;48(12):1570-1575. doi: 10.1038/ng.3700. Epub 2016 Oct 17. Nat Genet. 2016. PMID: 27749844 Free PMC article.
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E. Broekema MF, et al. Front Physiol. 2018 Sep 26;9:1363. doi: 10.3389/fphys.2018.01363. eCollection 2018. Front Physiol. 2018. PMID: 30319454 Free PMC article.
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.
Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Broekema MF, et al. Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. Epub 2018 Dec 16. Mol Metab. 2019. PMID: 30595551 Free PMC article.