Characterization of genetic interactions with RFA1: the role of RPA in DNA replication and telomere maintenance - PubMed (original) (raw)

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. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.