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Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma.
Berta DG, Kuisma H, Välimäki N, Räisänen M, Jäntti M, Pasanen A, Karhu A, Kaukomaa J, Taira A, Cajuso T, Nieminen S, Penttinen RM, Ahonen S, Lehtonen R, Mehine M, Vahteristo P, Jalkanen J, Sahu B, Ravantti J, Mäkinen N, Rajamäki K, Palin K, Taipale J, Heikinheimo O, Bützow R, Kaasinen E, Aaltonen LA. Berta DG, et al. Among authors: kuisma h. Nature. 2021 Aug;596(7872):398-403. doi: 10.1038/s41586-021-03747-1. Epub 2021 Aug 4. Nature. 2021. PMID: 34349258
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas.
Välimäki N, Jokinen V, Cajuso T, Kuisma H, Taira A, Dagnaud O, Ilves S, Kaukomaa J, Pasanen A, Palin K, Heikinheimo O, Bützow R, Aaltonen LA, Karhu A. Välimäki N, et al. Among authors: kuisma h. Am J Hum Genet. 2023 Mar 2;110(3):460-474. doi: 10.1016/j.ajhg.2023.01.009. Epub 2023 Feb 10. Am J Hum Genet. 2023. PMID: 36773604 Free PMC article.
Parity associates with chromosomal damage in uterine leiomyomas.
Kuisma H, Bramante S, Rajamäki K, Sipilä LJ, Kaasinen E, Kaukomaa J, Palin K, Mäkinen N, Sjöberg J, Sarvilinna N, Taipale J, Kauppi L, Tumiati M, Hassinen A, Pitkäniemi J, Jalkanen J, Heikkinen S, Pasanen A, Heikinheimo O, Bützow R, Välimäki N, Aaltonen LA. Kuisma H, et al. Nat Commun. 2021 Sep 14;12(1):5448. doi: 10.1038/s41467-021-25806-x. Nat Commun. 2021. PMID: 34521855 Free PMC article.
Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability.
Välimäki N, Kuisma H, Pasanen A, Heikinheimo O, Sjöberg J, Bützow R, Sarvilinna N, Heinonen HR, Tolvanen J, Bramante S, Tanskanen T, Auvinen J, Uimari O, Alkodsi A, Lehtonen R, Kaasinen E, Palin K, Aaltonen LA. Välimäki N, et al. Among authors: kuisma h. Elife. 2018 Sep 18;7:e37110. doi: 10.7554/eLife.37110. Elife. 2018. PMID: 30226466 Free PMC article.