纤毛相关基因优先排序工具及其体内资源为纤毛病研究开辟了新途径。

IF 4 3区 医学 Q2 CELL BIOLOGY
Robert E Van Sciver,Tamara Caspary
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引用次数: 0

摘要

纤毛信号的缺陷或定位在初级纤毛上的蛋白质的突变会导致一类被称为纤毛疾病的人类疾病。哺乳动物中约有 10% 的基因编码纤毛相关蛋白,而纤毛研究领域的一个主要空白是确定哪些基因需要优先研究,以及寻找可用于研究的脊椎动物体内突变等位基因和试剂。在这里,我们提供了一个统一的资源,列出了与纤毛相关的人类基因、小鼠和斑马鱼突变等位基因、它们的相关表型以及在肾脏中的表达数据和脊椎动物刺猬信号转导的功能数据。该资源使研究人员能够根据自己的专长和优先事项轻松分类和筛选基因,与新生成的组学数据集进行交叉引用,并快速找到与感兴趣的基因相关的体内资源和表型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A prioritization tool for cilia-associated genes and their in vivo resources unveil new avenues for ciliopathy research.
Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. About 10% of mammalian genes encode cilia-associated proteins and a major gap in the cilia research field is prioritizing which genes to study and finding the in vivo vertebrate mutant alleles and reagents available for their study. Here we present a unified resource listing the cilia-associated human genes cross-referenced to available mouse and zebrafish mutant alleles, their associated phenotypes as well as expression data in kidney and functional data for vertebrate Hedgehog signaling. This resource empowers researchers to easily sort and filter genes based on their own expertise and priorities, cross-reference with newly-generated -omics datasets, and quickly find in vivo resources and phenotypes associated with a gene of interest.
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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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