Kateřina Hodaňová

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon et al. · The American Journal of Human Genetics · 2009 · 163 citations · Full text

Hypertension, Renal Function, Medicine +10

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 152 citations · Full text

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan et al. · Cell Metabolism · 2014 · 138 citations · Full text

Signal Transduction, Mendelian Disorder, G Protein-coupled Receptor +10

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Eric Olinger, Patrick Hofmann, Kendrah Kidd et al. · Kidney International · 2020 · 131 citations · Full text

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová et al. · Kidney International · 2006 · 123 citations

Urology, Mendelian Disorder, Disease Mechanism +12