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MSL2 ensures biallelic gene expression in mammals.
Sun Y, Wiese M, Hmadi R, Karayol R, Seyfferth J, Martinez Greene JA, Erdogdu NU, Deboutte W, Arrigoni L, Holz H, Renschler G, Hirsch N, Foertsch A, Basilicata MF, Stehle T, Shvedunova M, Bella C, Pessoa Rodrigues C, Schwalb B, Cramer P, Manke T, Akhtar A. Sun Y, et al. Among authors: shvedunova m. Nature. 2023 Dec;624(7990):173-181. doi: 10.1038/s41586-023-06781-3. Epub 2023 Nov 29. Nature. 2023. PMID: 38030723 Free PMC article.
Epigenetic Regulators as the Gatekeepers of Hematopoiesis.
Rodrigues CP, Shvedunova M, Akhtar A. Rodrigues CP, et al. Among authors: shvedunova m. Trends Genet. 2020 Oct 21:S0168-9525(20)30251-1. doi: 10.1016/j.tig.2020.09.015. Online ahead of print. Trends Genet. 2020. PMID: 34756331 Free article. Review.
The NSL complex is required for piRNA production from telomeric clusters.
Iyer SS, Sun Y, Seyfferth J, Manjunath V, Samata M, Alexiadis A, Kulkarni T, Gutierrez N, Georgiev P, Shvedunova M, Akhtar A. Iyer SS, et al. Among authors: shvedunova m. Life Sci Alliance. 2023 Jun 30;6(9):e202302194. doi: 10.26508/lsa.202302194. Print 2023 Sep. Life Sci Alliance. 2023. PMID: 37399316 Free PMC article.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: shvedunova m. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
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