Blanka Stibůrková

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

Functional non-synonymous variants of ABCG2 and gout risk

Blanka Stibůrková, Kateřina Pavelcová, Jakub Závada et al. · Lara D. Veeken · 2017 · 82 citations · Full text

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

Blanka Stibůrková, Kateřina Pavelcová, Markéta Pavlı́ková et al. · Arthritis Research & Therapy · 2019 · 68 citations · Full text

Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort

Yu Toyoda, Andrea Mančíková, Vladimír Krylov et al. · Cells · 2019 · 63 citations · Full text

A genome-wide association analysis reveals new pathogenic pathways in gout

Tanya J. Major, Riku Takei, Hirotaka Matsuo et al. · Nature Genetics · 2024 · 63 citations · Full text