Article
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
American journal of human genetics - 5 Nov 2020
Chan Rebecca W Y, Serpas Lee, Ni Meng, Volpi Stefano, Hiraki Linda T, Tam Lai-Shan, Rashidfarrokhi Ali, Wong Priscilla C H, Tam Lydia H P, Wang Yueyang, Jiang Peiyong, Cheng Alice S H, Peng Wenlei, Han Diana S C, Tse Patty P P, Lau Pik Ki, Lee Wing-Shan, Magnasco Alberto, Buti Elisa, Sisirak Vanja, AlMutairi Nora, Chan K C Allen, Chiu Rossa W K, Reizis Boris, Lo Y M Dennis
Abstract excerpt
Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset and anti-dsDNA reactivity. In this study, we found that human patients with DNASE1L3...
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