CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central
hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by …

Genome-wide association studies (GWAS) have identified loci for kidney disease, but the
causal variants, genes, and pathways remain unknown. Here we identify two kidney disease …

The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

Albumin is the main protein of blood plasma, lymph, cerebrospinal and interstitial fluid. The
protein participates in a variety of important biological functions, such as maintenance of …

Renal defects in maturity onset diabetes of the young 3 (MODY3) patients and Hnf1a-/-mice
suggest an involvement of HNF1A in kidney development and/or its function. Although …

Variants in HNF1A encoding hepatocyte nuclear factor 1α (HNF-1A) are associated with
maturity-onset diabetes of the young form 3 (MODY 3) and type 2 diabetes. We investigated …

Over decades, substantial progress has been achieved in understanding the pathogenesis
of proteinuria in diabetic kidney disease (DKD), biomarkers for DKD screening, diagnosis …

Clear cell renal cell carcinoma (ccRCC) is a complex disease with remarkable immune and
metabolic heterogeneity. Here we perform genomic, transcriptomic, proteomic, metabolomic …

Lysosomes are organelles involved in cell metabolism, waste degradation, and cellular
material circulation. They play a key role in the maintenance of cellular physiological …