基本信息
浏览量:0
职业迁徙
个人简介
My research is focused on defining the molecular underpinnings of podocyte injury and dysfunction in nephrotic syndrome (NS) with a primary focus on focal segmental glomerulosclerosis (FSGS). FSGS is the most common primary glomerular disease that causes end-stage kidney disease in the US and is caused by injury or loss of glomerular visceral epithelial cells (i.e. podocytes). My scientific contributions in the field include the identification of a novel heterozygous missense mutation in Wilms’ Tumor 1 (WT1) that caused non-syndromic familial FSGS (1), the identification of a dominant negative effect of the LIM Homeobox Transcription Factor 1ß R246Q mutation on expression of WT1 (-KTS) isoforms that contributes to the renal-specific phenotype associated with Nail Patella-like Renal Disease (2), and the identification of impaired autophagy and ER stress pathway activation as the cause of podocyte dysfunction and apoptosis induced by the human FSGS-causing ANLN R431C mutation (3). The goal of my research program is to translate novel discoveries in renal genetics into rational therapies and diagnostic tools for patients with NS.
研究兴趣
论文共 33 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSIONno. 2 (2024): 174-180
Marharyta Semenikhina,Mykhailo Fedoriuk, Mariia Stefanenko,Christine A Klemens,Alena Cherezova, Brendan Marshall,Gentzon Hall,Vladislav Levchenko, Ashish K Solanki,Joshua H Lipschutz,Daria V Ilatovskaya,Alexander Staruschenko,
Clinical science (London, England : 1979)no. 24 (2023): 1789-1804
Linda Wang, Bayle Smith-Salzberg,Kevin EC Meyers,Dorey A. Glenn,Katherine R. Tuttle,Vimal K. Derebail,Tammy M. Brady,Keisha Gibson,Abigail R. Smith,Michelle M. O’Shaughnessy,Tarak Srivastava,Gentzon Hall,
American Journal of Kidney Diseasesno. 6 (2022): 783-784
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn