Article
Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus.
Genes - 19 Aug 2021
Kiener Sarah, Ribi Camillo, Keller Irene, Chizzolini Carlo, Trendelenburg Marten, Huynh-Do Uyen, von Kempis Johannes, On Behalf Of Swiss Sle Cohort Study Sscs, Leeb Tosso
Abstract excerpt
Systemic lupus erythematosus (SLE) is a heterogeneous multifactorial disease. Upregulated TLR7 signaling is a known risk factor for SLE. Recently, it was shown that specific genetic variants in UNC93B1 affect the physiological regulation of TLR7 signaling and cause characteristic autoimmune phenotypes with monogenic autosomal recessive inheritance in mutant mice and dogs. We therefore hypothesized that homologous...
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