Martina Živná

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

Moran Dvela‐Levitt, Maria Kost‐Alimova, Maheswarareddy Emani et al. · Cell · 2019 · 201 citations · Full text

Life Sciences, Molecular Biology, Pathology +13

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 · 167 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 · 159 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 146 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac et al. · Clinical Journal of the American Society of Nephrology · 2014 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +14