Author

H. Hartmannová

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Open access Aug 2026

Heterozygous truncating variants in BICC1 are a novel cause of autosomal-dominant tubulointerstitial kidney disease

Tuncating variants in BICC1 are a novel cause of ADTKD, segregating with the disease phenotype and upregulating BICC1 target gene expression through a dominant-negative- or a gain-of-function mode of action.

N. Eylath, K. Kidd, P. Alyea-Herman et al. · medRxiv · 0 citations

Review Open access Aug 2026

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

Findings establish the physiological relevance of the LSP2 promoter, support routine assessment of the mitochondrial genome in inherited kidney disease, and highlight mtDNA variants as an important cause of familial and sporadic tubulointerstitial kidney disease of previously unexplained etiology.

K. Svojšová, K. Kidd, Dita Mušálková et al. · medRxiv · 0 citations