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PubMed for id: 1519312906

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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS. Abu-Libdeh B, et al. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301. J Clin Invest. 2022. PMID: 35025765 Free PMC article.
The RECQL helicase prevents replication fork collapse during replication stress.
Benedict B, van Bueren MA, van Gemert FP, Lieftink C, Guerrero Llobet S, van Vugt MA, Beijersbergen RL, Te Riele H. Benedict B, et al. Life Sci Alliance. 2020 Aug 20;3(10):e202000668. doi: 10.26508/lsa.202000668. Print 2020 Oct. Life Sci Alliance. 2020. PMID: 32820027 Free PMC article.