Investigating Mechanisms of Alport Syndrome

阿尔波特综合征的机制研究

• 批准号: 486167
• 负责人: Ricardo Samantha A
• 金额: $ 1.27万
• 依托单位: University of Toronto
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-12-01 至 2023-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=486167&lang=en
• 关键词: Alport Syndrome; Dna Pronuclear Injection; Genetic Disorders; Genetics; Glomerular Basement Membrane; Kidney Disease; Kidney Failure; Post-Translational Modifications; Transgenesis; Type Iv Collagen

Alport syndrome (AS) is a rare monogenic disorder and an understated cause of chronic kidney disease. Symptoms include vision loss, hearing loss, and kidney disease manifesting as hematuria, albuminuria, and organ failure. AS results from variants in COL4

Alport综合征（AS）是一种罕见的单基因疾病，是慢性肾脏疾病的一个被低估的原因。症状包括视力丧失、听力丧失和肾脏疾病，表现为血尿、蛋白尿和器官衰竭。COL4变异导致AS