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BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ.
Bunch H, Jeong J, Kang K, Jo DS, Cong ATQ, Kim D, Kim D, Cho DH, Lee YM, Chen BPC, Schellenberg MJ, Calderwood SK. Bunch H, et al. Among authors: cong atq. Open Biol. 2021 Oct;11(10):210221. doi: 10.1098/rsob.210221. Epub 2021 Oct 6. Open Biol. 2021. PMID: 34610268 Free PMC article.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bönnemann CG, Klee EW. Morales-Rosado JA, et al. Among authors: cong atq. Am J Hum Genet. 2023 Jun 1;110(6):989-997. doi: 10.1016/j.ajhg.2023.04.006. Epub 2023 May 10. Am J Hum Genet. 2023. PMID: 37167966 Free PMC article.