Tartu University Hospital

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Comprehensive NMR metabolomic profiling reveals a pro-atherogenic signature in psoriasis

Abstract Psoriasis (PS) is a chronic inflammatory skin disease associated with cardiometabolic comorbidity. While systemic inflammation is recognized as a major driver of this risk, metabolomic signatures linking PS to cardiometabolic dysfunction remain incompletely defined. The...