日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

等位基因对尿调节蛋白聚集体的影响导致常染色体显性肾小管间质肾病

Guglielmo Schiano #, Jennifer Lake #, Marta Mariniello #, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

单等位基因致病性 ALG5 变异导致非典型多囊肾病和间质纤维化

Hugo Lemoine, Loann Raud, François Foulquier, John A Sayer, Baptiste Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C Harris, Pascal Trouvé, Aurore Desprès, Gabrielle Duneau, Marie Matignon, Anais Poyet, Noémie Jourde-Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Seret, 

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

CEP120 和 CC2D2A 基因变异的更新——重点关注基因型-表型相关性、组织特异性转录本以及探索突变特异性外显子跳跃疗法

Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom, Elisa Molinari, Colin G Miles, John A Sayer

The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism

人类尿调节蛋白丝核心的低温电子显微镜结构揭示了一种独特的组装机制

Jessica J Stanisich #, Dawid S Zyla #, Pavel Afanasyev, Jingwei Xu, Anne Kipp, Eric Olinger, Olivier Devuyst, Martin Pilhofer, Daniel Boehringer, Rudi Glockshuber

The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK

尿调节蛋白的尿液排泄受钾通道 ROMK 的调节

Guglielmo Schiano, Bob Glaudemans, Eric Olinger, Nadine Goelz, Michael Müller, Dominique Loffing-Cueni, Georges Deschenes, Johannes Loffing, Olivier Devuyst

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis

Hepsin 介导的尿调节素加工对于盐敏感性和粗上升支稳态至关重要

Eric Olinger, Jennifer Lake, Susan Sheehan, Guglielmo Schiano, Tomoaki Takata, Natsuko Tokonami, Huguette Debaix, Francesco Consolato, Luca Rampoldi, Ron Korstanje, Olivier Devuyst

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

与内质网应激相关的遗传性肾纤维化小鼠模型

Sian E Piret, Eric Olinger, Anita A C Reed, M Andrew Nesbit, Tertius A Hough, Liz Bentley, Olivier Devuyst, Roger D Cox, Rajesh V Thakker

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

一种新的纯合 UMOD 突变揭示了基因剂量对尿调节蛋白加工和尿液排泄的影响

Noel Edwards, Eric Olinger, Jennifer Adam, Michael Kelly, Guglielmo Schiano, Simon A Ramsbottom, Richard Sandford, Olivier Devuyst, John A Sayer

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

丝氨酸蛋白酶 hepsin 介导尿液分泌和透明带结构域蛋白尿调节蛋白的聚合

Martina Brunati, Simone Perucca, Ling Han, Angela Cattaneo, Francesco Consolato, Annapaola Andolfo, Céline Schaeffer, Eric Olinger, Jianhao Peng, Sara Santambrogio, Romain Perrier, Shuo Li, Marcel Bokhove, Angela Bachi, Edith Hummler, Olivier Devuyst, Qingyu Wu, Luca Jovine, Luca Rampoldi