Defining the role of GATA2 in lymphatic vascular development as a means to understanding how GATA2 mutations predispose to human lymphedema.

定义 GATA2 在淋巴血管发育中的作用，作为了解 GATA2 突变如何诱发人类淋巴水肿的一种手段。

• 批准号: nhmrc : 1061365
• 负责人: A/Pr Natasha Harvey
• 金额: $ 47.94万
• 依托单位: University of South Australia
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/defining-role-gata2-human-lymphedema/454888
• 关键词: Defining; role; GATA2; lymphatic; vascular

We have discovered that mutations in the transcription factor GATA2 result in human primary lymphedema, a debilitating disorder resulting from the failure of lymphatic vessels to return tissue fluid to the bloodstream. The goal of this application is to define the role of GATA2 in lymphatic vessels, in order to understand how GATA2 mutations cause lymphedema. Ultimately, we aim to identify targets to which desperately needed therapeutics for the treatment of lymphedema could be generated.

我们发现转录因子 GATA2 的突变会导致人类原发性淋巴水肿，这是一种因淋巴管无法将组织液返回血液而导致的衰弱性疾病。本申请的目的是明确 GATA2 在淋巴管中的作用，以了解 GATA2 突变如何导致淋巴水肿。最终，我们的目标是确定可以产生急需的淋巴水肿治疗药物的靶标。