Michael Köttgen

This study identifies biomechanical changes in the tubular basement membrane as drivers of cyst formation in ADPKD, linking cilia and polycystin-1 function.

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

The paper develops a transcriptome-based method to match bulk RNA-seq data from kidney cell lines to single-cell reference datasets, identifying accurate cell type identities and evaluating method performance.

This study identifies an extra-ciliary role for polycystins in regulating Ezrin and renal tubular morphology through phosphorylation and localization changes.

This paper develops a deep learning pipeline to quantify epithelial cell shape and tight junctions, applied to ADPKD models and Drosophila egg chambers to study morphogenetic changes.

This study investigates DNAJB11's role in atypical ADPKD, showing biallelic loss causes cystic kidney disease and identifying impaired PC1 cleavage as a potential mechanism.

This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.

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

This study shows that Eomes and Brachyury control pluripotency exit and germ layer segregation by altering chromatin states, with Tbx factors repressing pluripotency and NE gene programs while enabling ME differentiation.