Dimitra Papaioannou

This paper evaluates base editing strategies for treating ADTKD-UMOD by correcting pathogenic UMOD variants and inactivating mutant alleles, showing efficient correction and expression modulation in cell models.

This study shows that kidney-specific deletion of Wdr72 causes incomplete distal renal tubular acidosis by reducing V-ATPase B1 subunit localization and impairing intercalated cell function.

This study shows that CRISPR base editing can correct pathogenic PKD1 variants in mice, reducing liver cysts and increasing polycystin-1 expression.

The paper develops an isogenic cell line model to study the effects of the DNASE1L3 p.Arg206Cys variant on cell-free DNA fragmentation and shows how wildtype DNASE1L3 can enrich for mononucleosomal fragments.