Jan Halbritter

Base Editing as a Therapeutic Strategy for Autosomal Dominant Tubulointerstitial Kidney Disease caused by Pathogenic UMOD Variants

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.

Kidney-specific Wdr72 deletion leads to incomplete distal renal tubular acidosis through impaired V-ATPase B1 subunit localization

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.

Cyst-type epithelial heterogeneity shapes therapeutic responsiveness in ADPKD

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

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease

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

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

KidneyNetwork predicts kidney-specific gene functions and disease phenotypes using co-expression networks, identifying ALG6 as a candidate gene for kidney and liver cysts in undiagnosed patients.