Eric Olinger

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Sarah R. Senum, Ying Li, Katherine A. Benson et al. · The American Journal of Human Genetics · 2021 · 168 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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

Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC

Natsuko Tokonami, Tomoaki Takata, Jan Beyeler et al. · Kidney International · 2018 · 130 citations · Full text

Medicine, Cell Biology, Physiology +16

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

Martina Brunati, Simone Perucca, Ling Han et al. · eLife · 2015 · 118 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

S. Hadj‐Rabia, Gaëlle Brideau, Yasser Al‐Sarraj et al. · Genetics in Medicine · 2017 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4