Suppr超能文献

在... 中建立先天性肾脏疾病模型。

Modeling congenital kidney diseases in .

机构信息

Pediatric Research Center, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center, Houston, TX 77030, USA.

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Program in Genetics and Epigenetics, Houston, TX 77030, USA.

出版信息

Dis Model Mech. 2019 Apr 9;12(4):dmm038604. doi: 10.1242/dmm.038604.

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of new strategies aimed at reducing the incidence of CAKUT and preserving renal function. Next-generation sequencing has uncovered a significant number of putative causal genes, but a simple and efficient model system to examine the function of CAKUT genes is needed. (frog) embryos are well-suited to model congenital kidney diseases and to explore the mechanisms that cause these developmental defects. has many advantages for studying the kidney: the embryos develop externally and are easily manipulated with microinjections, they have a functional kidney in ∼2 days, and 79% of identified human disease genes have a verified ortholog in This facilitates high-throughput screening of candidate CAKUT-causing genes. In this Review, we present the similarities between and mammalian kidneys, highlight studies of CAKUT-causing genes in and describe how common kidney diseases have been modeled successfully in this model organism Additionally, we discuss several molecular pathways associated with kidney disease that have been studied in and demonstrate why it is a useful model for studying human kidney diseases.

摘要

先天性肾和尿路畸形 (CAKUT) 发生在大约 1/500 例活产儿中,是儿童肾衰竭的主要原因。由于肾脏移植的平均等待时间为 3-5 年,因此迫切需要开发新策略,以降低 CAKUT 的发病率并保护肾功能。下一代测序已经发现了大量可能的致病基因,但需要一种简单有效的模型系统来研究 CAKUT 基因的功能。(青蛙)胚胎非常适合模拟先天性肾脏疾病,并探索导致这些发育缺陷的机制。由于具有许多优势,因此非常适合研究肾脏:胚胎在外部发育,通过显微注射很容易操作,大约在 2 天内就具有功能性肾脏,并且 79%已鉴定的人类疾病基因在 中都有经过验证的同源基因。这有助于对候选 CAKUT 致病基因进行高通量筛选。在这篇综述中,我们介绍了 和哺乳动物肾脏之间的相似之处,重点介绍了在 中导致 CAKUT 的基因的研究,并描述了如何成功地在该模型生物中模拟常见的肾脏疾病。此外,我们还讨论了几种与肾脏疾病相关的分子途径,这些途径已经在 中进行了研究,并展示了为什么它是研究人类肾脏疾病的有用模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c21/6505484/d38430f4713f/dmm-12-038604-g1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验