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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Among authors: saintome c. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
A multi-approach analysis highlights the relevance of RPA-1 as a telomere end-binding protein (TEBP) in Leishmania amazonensis.
Fernandes CAH, Morea EGO, Dos Santos GA, da Silva VL, Vieira MR, Viviescas MA, Chatain J, Vadel A, Saintomé C, Fontes MRM, Cano MIN. Fernandes CAH, et al. Among authors: saintome c. Biochim Biophys Acta Gen Subj. 2020 Jul;1864(7):129607. doi: 10.1016/j.bbagen.2020.129607. Epub 2020 Mar 25. Biochim Biophys Acta Gen Subj. 2020. PMID: 32222548
21 results