Dnase1l3 Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
598119438	Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.	Al-Mayouf SM, etal., Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.	Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a ... (more) null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.	22019780	2011-10-23