The 4th International Conference on GATA Factors and Human Disease

描述(由申请人提供)： GATA转录因子家族的六个成员现在已经被证明对许多 对于不同的发育事件以及多个器官和细胞谱系的分化，包括脂肪、血液、心血管、神经、皮肤、肝脏和泌尿生殖系统。这是一个非常活跃的研究领域，直接与对发育过程中基因表达调控的一般询问有关。这一领域也具有直接的医学意义，因为已经证明，一种GATA因子导致唐氏综合征患者一种形式的白血病发病率增加(GATA1突变)，而另一种GATA因子(GATA3)的突变导致人类HDR综合征，这是一种单倍体不足的疾病，导致听力损失、肾脏畸形和甲状旁腺内分泌功能障碍。最近，GATA4的突变被证明与先天性心脏病有关。我们相信，这些每三年举行一次的关于GATA因素的高度集中的会议在阐明许多对理解人类疾病具有直接重要性的发展途径方面发挥了开创性的作用，我们预计这次会议将同样导致新的合作，并对无效基因如何产生更深的理解 这些蛋白质的调节会导致人类疾病。

DESCRIPTION (provided by applicant): The six members of the GATA transcription factor family have now been shown to be vital for numerous distinct developmental events and for the differentiation of multiple organs and cell lineages, including the fat, blood, cardiovascular, nervous, skin, liver and urogenital systems. This is a very active field of research that relates directly to the general inquiry of regulation of gene expression during development. This field is also of immediate medical importance, since it has been shown that a GATA factor is responsible for the increased incidence in one form of leukemia among Downs' syndrome patients (mutations in GATA1) and mutation of a different GATA factor (GATA3) leads to human HDR syndrome, a haploinsufficient disorder resulting in hearing loss, kidney malformation and parathyroid endocrine dysfunction. Even more recently, mutations in GATA4 have been shown to be associated with congenital heart disease. We believe that these highly focused conferences on the GATA factors held every three years have played a seminal role in illuminating numerous developmental pathways of immediate importance in understanding human disease, and we anticipate that this conference will similarly lead to new collaborations and an even deeper understanding of how ineffective gene regulation by these proteins lead to human disorders.