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

Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells

针对常染色体显性多囊肾病(ADPKD)的转化阅读疗法可诱导多囊蛋白1(polycystin1)表达,并部分挽救PKD1突变细胞的功能缺陷。

Torban, Elena; Canaff, Lucie; Babayeva, Sima; Kachurina, Nadezda; Chung, Chen-Fang; Ong, Albert C M; Alam, Ahsan; Goodyer, Paul R

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis

使用患者来源的细胞模型来表征孤立性肾痨患者的复合杂合低等位基因 C2CD3 变异

Zachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, Sima Babayeva, Marc Henein, Lee Lee Chu, Murielle M Akpa, Chen-Fang Chung, Jean-Baptiste Rivière, Mihaela Pupavac, Rui Li, David S Rosenblatt, Jacek Majewski, Paul R Goodyer, Elena Torban, Thomas M Kitzler

Infections caused by extended-spectrum beta-lactamase-producing Enterobacterales in hospitalized neonatal foals: Can colonization predict infection?

住院新生驹中产超广谱β-内酰胺酶肠杆菌科细菌引起的感染:定植能否预测感染?

Shnaiderman-Torban, Anat; Meltzer, Lilac; Zilberman-Daniels, Tal; Navon-Venezia, Shiri; Cohen, Adar; Sutton, Gila Abells; Blum, Shlomo E; Amit, Sharon; Steinman, Amir

Emerging therapeutic strategies for cystinosis

胱氨酸病的新兴治疗策略

Goodyer, Paul; Torban, Elena

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

扩展CC2D2A相关纤毛病的表型谱:一例疑似肾痨患者的罕见纯合无义变异

Sentell, Zachary T; Nurcombe, Zachary W; Mougharbel, Lina; Anastasio, Natascia; Rivière, Jean-Baptiste; Babayeva, Sima; Goodyer, Paul R; Torban, Elena; Kitzler, Thomas M

The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP

CPLANE 蛋白 Fuzzy 通过 p190A RhoGAP 抑制初级纤毛基部的肌动蛋白聚合,从而调节纤毛发生

Rhythm Sharma, Rita Kalot, Yossef Levin, Sima Babayeva, Nadezda Kachurina, Chen-Feng Chung, Karen J Liu, Maxime Bouchard, Elena Torban

Primary cilia and actin regulatory pathways in renal ciliopathies

肾纤毛病中的原发性纤毛和肌动蛋白调节通路

Kalot, Rita; Sentell, Zachary; Kitzler, Thomas M; Torban, Elena

Prevalence and Molecular Characterization of Extended-Spectrum β-Lactamase Producing Enterobacterales in Healthy Community Dogs in Israel

以色列健康社区犬中产超广谱β-内酰胺酶肠杆菌科细菌的流行情况及分子特征

Shnaiderman-Torban, Anat; Navon-Venezia, Shiri; Baron, Hadar; Abu-Ahmad, Wiessam; Arielly, Haya; Zizelski Valenci, Gal; Nissan, Israel; Paitan, Yossi; Steinman, Amir

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

鉴定与颅缝早闭相关的纤毛病基因 FUZZY 的新变异

William B Barrell, Hadeel Adel Al-Lami, Jacqueline A C Goos, Sigrid M A Swagemakers, Marieke van Dooren, Elena Torban, Peter J van der Spek, Irene M J Mathijssen, Karen J Liu

Advancing Discovery Research in Nephrology in Canada: A Conference Report From the 2021 Molecules and Mechanisms Mediating Kidney Health and Disease (M3K) Scientific Meeting and Investigator Summit

推进加拿大肾脏病学发现研究:2021年肾脏健康与疾病分子及机制(M3K)科学会议暨研究者峰会会议报告

Burger, Dylan; Abdelrasoul, Amira; Alexander, R Todd; Ballermann, Barbara; Bridgewater, Darren; Chan, John S D; Cunanan, Joanna; Cybulsky, Andrey V; Gerarduzzi, Casimiro; Gunaratnam, Lakshman; Hartwig, Sunny; Kapus, Andras; Kennedy, Christopher R J; Lamarche, Caroline; Myette, Robert L; Nmecha, Ifeanyi Kennedy; Stalker, Leanne; Szaszi, Katalin; Torban, Elena; Zhang, Shao Ling; Takano, Tomoko