Kai‐Uwe Eckardt

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 identifies IL-17A as a mediator of oxalate-induced cardiorenal injury in CKD, showing its role in inflammation and cardiac dysfunction.

This study identifies a microbiome-AhR-IL-17A axis that drives CKD-associated cardiac fibrosis and shows that AhR inhibition prevents remodeling.

The paper identifies three epithelial cyst types in ADPKD using single-nucleus RNA sequencing and machine learning, showing their association with therapeutic response.

This study performs GWAS on the human urine proteome, identifying genetic associations with 20 proteins and linking them to disease risk and gene expression.

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

The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.

The paper assesses if a polygenic score for reduced kidney function predicts adverse outcomes in chronic kidney disease patients, finding significant associations but no improvement in prediction over existing risk equations.

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

This study uses urinary single-cell RNA sequencing to analyze injury and repair processes in acute kidney injury, identifying distinct cellular and molecular dynamics.

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

This study uses single-nuclei transcriptomics to analyze human kidney injury responses, identifying four injury-associated cell states and showing similar gene expression changes between AKI patients with and without COVID-19.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.