Padvitski, Unger Avila, Chen et al. introduce a single-cell transcriptomic framework that quantifies progressive cellular damage across degenerative disease models. Applied to kidney and liver injury,...

Padvitski, Unger Avila, Chen et al. introduce a single-cell transcriptomic framework that quantifies progressive cellular damage across degenerative disease models. Applied to kidney and liver injury,...

The authors use a Caenorhabditis elegans model of Verheij syndrome, caused by mutations in the splicing factor PUF60, and show that Vitamin B12 can rescue the phenotype.

Conducting innovative research in line with the above-mentioned project. Collecting, analyzing, and interpreting data using various OMICs techniques. Conducting in vitro and in vivo experiments. Colla...

AbstractBackground. Up to 8% of renal tumors have a monogenic cause, yet hereditary renal cell carcinoma (hRCC) syndromes such as Von Hippel–Lindau (VHL),

Abstract. The 2025 KDIGO Clinical Practice Guideline for Autosomal Dominant Polycystic Kidney Disease (ADPKD) addresses intracranial aneurysms (ICAs) and o

Comment on Halbritter et al. „Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA

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Abstract. Adolescents and young adults with chronic kidney disease (CKD), particularly those with genetic kidney diseases, face unique challenges as they t

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Abstract. The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal

Emilie Cornec-Le Gall, Jan Halbritter, Roman Ulrich Müller; CKDx: Simplicity matters, implementation is key, Nephrology Dialysis Transplantation, , gfaf137

Abstract. Patients with chronic kidney disease (CKD) often present with a family burden of disease. However, efficient collection and documentation of fami

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