Uromodulin: from physiology to rare and complex kidney disorders O Devuyst, E Olinger, L Rampoldi Nature Reviews Nephrology 13 (9), 525-544, 2017 | 314 | 2017 |
Autosomal dominant tubulointerstitial kidney disease O Devuyst, E Olinger, S Weber, KU Eckardt, S Kmoch, L Rampoldi, ... Nature Reviews Disease Primers 5 (1), 60, 2019 | 220 | 2019 |
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin M Brunati, S Perucca, L Han, A Cattaneo, F Consolato, A Andolfo, ... Elife 4, e08887, 2015 | 124 | 2015 |
Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC N Tokonami, T Takata, J Beyeler, I Ehrbar, A Yoshifuji, EI Christensen, ... Kidney international 94 (4), 701-715, 2018 | 122 | 2018 |
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 E Olinger, P Hofmann, K Kidd, I Dufour, H Belge, C Schaeffer, A Kipp, ... Kidney international 98 (3), 717-731, 2020 | 113 | 2020 |
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype SR Senum, YSM Li, KA Benson, G Joli, E Olinger, S Lavu, CD Madsen, ... The American Journal of Human Genetics 109 (1), 136-156, 2022 | 109 | 2022 |
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome S Hadj-Rabia, G Brideau, Y Al-Sarraj, RC Maroun, ML Figueres, ... Genetics in Medicine 20 (2), 190-201, 2018 | 98 | 2018 |
Common elements in rare kidney diseases: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference S Aymé, D Bockenhauer, S Day, O Devuyst, LM Guay-Woodford, ... Kidney international 92 (4), 796-808, 2017 | 70 | 2017 |
Uromodulin and nephron mass E Pivin, B Ponte, S de Seigneux, D Ackermann, I Guessous, G Ehret, ... Clinical Journal of the American Society of Nephrology 13 (10), 1556-1557, 2018 | 64 | 2018 |
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis H Lemoine, L Raud, F Foulquier, JA Sayer, B Lambert, E Olinger, ... The American Journal of Human Genetics 109 (8), 1484-1499, 2022 | 52 | 2022 |
Hepsin-mediated processing of uromodulin is crucial for salt-sensitivity and thick ascending limb homeostasis E Olinger, J Lake, S Sheehan, G Schiano, T Takata, N Tokonami, ... Scientific reports 9 (1), 12287, 2019 | 50 | 2019 |
Parvalbumin: calcium and magnesium buffering in the distal nephron E Olinger, B Schwaller, J Loffing, P Gailly, O Devuyst Nephrology Dialysis Transplantation 27 (11), 3988-3994, 2012 | 47 | 2012 |
A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress SE Piret, E Olinger, AAC Reed, MA Nesbit, TA Hough, L Bentley, ... Disease models & mechanisms 10 (6), 773-786, 2017 | 45 | 2017 |
Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule S Terryn, K Tanaka, JP Lengelé, E Olinger, D Dubois-Laforgue, S Garbay, ... Kidney international 89 (5), 1075-1089, 2016 | 41 | 2016 |
Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease B Ponte, MC Sadler, E Olinger, P Vollenweider, M Bochud, ... Kidney international 100 (6), 1282-1291, 2021 | 40 | 2021 |
The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism JJ Stanisich, DS Zyla, P Afanasyev, J Xu, A Kipp, E Olinger, O Devuyst, ... Elife 9, e60265, 2020 | 39 | 2020 |
Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations K Kidd, P Vylet’al, C Schaeffer, E Olinger, M Živná, K Hodaňová, V Robins, ... Kidney international reports 5 (9), 1472-1485, 2020 | 38 | 2020 |
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations J Devane, E Ott, EG Olinger, D Epting, E Decker, A Friedrich, ... The American Journal of Human Genetics 109 (5), 928-943, 2022 | 37 | 2022 |
What does uromodulin do? A Kipp, E Olinger Clinical Journal of the American Society of Nephrology 16 (1), 150-153, 2021 | 36 | 2021 |
Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up M Siegenthaler, U Huynh-Do, P Krayenbuehl, E Pollock, U Widmer, ... International journal of cardiology 249, 261-267, 2017 | 35 | 2017 |