Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.

Brian SkaugXinjian GuoYuanteng Jeff LiJulio CharlesKay T PhamJacob CouturierDorothy E LewisClaudia BracagliaIvan CaielloMaureen D MayesShervin Assassi

Published in: Rheumatology (Oxford, England) (2023)

Our results confirm that circulating gDNA is a physiologic DNASE1L3 substrate and show that its digestion is reduced in SSc patients with the DNASE1L3 R206C variant.

Keyphrases

systemic sclerosis
interstitial lung disease
circulating tumor
cell free
single molecule
copy number
rheumatoid arthritis
gene expression
structural basis