日期 影响因子
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

期刊:EMBO Molecular Medicine
影响因子:9
doi:10.15252/emmm.202318242
Guglielmo Schiano #, Jennifer Lake #, Marta Mariniello #, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst
信号转导
发表日期：2023
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Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin

Meta-GWAS 揭示与尿调节蛋白尿液排泄相关的新型遗传变异

期刊:Journal of the American Society of Nephrology
影响因子:10.3
doi:10.1681/ASN.2021040491
Christina B Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E Huffman, Archie Campbell, Sarah E Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sébastien Thériault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, 
信号转导
发表日期：2022
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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

KCNJ16 缺陷导致一种新型小管病，伴有低钾血症、盐流失、酸碱平衡紊乱和神经性耳聋

期刊:Journal of the American Society of Nephrology
影响因子:10.3
doi:10.1681/ASN.2020111587
Karl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, Anna-Lena Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stephanie
神经
耳聋耳鸣
发表日期：2021
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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

期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-019-48300-3
Eric Olinger, Jennifer Lake, Susan Sheehan, Guglielmo Schiano, Tomoaki Takata, Natsuko Tokonami, Huguette Debaix, Francesco Consolato, Luca Rampoldi, Ron Korstanje, Olivier Devuyst
信号转导
ELISA
发表日期：2019
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