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CiliaMiner:纤毛病相关基因和纤毛病的综合数据库。

CiliaMiner: an integrated database for ciliopathy genes and ciliopathies.

机构信息

Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Sumer Kampusu, Kayseri 38080, Turkey.

Department of Bioengineering, School of Life and Natural Sciences, Abdullah Gul University, Sumer Kampusu, Kayseri 38080, Turkey.

出版信息

Database (Oxford). 2023 Jul 26;2023. doi: 10.1093/database/baad047.

Abstract

Cilia are found in eukaryotic species ranging from single-celled organisms, such as Chlamydomonas reinhardtii, to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation and differentiation and provide cellular mobility are just a few examples of how crucial cilia are to cells and organisms. Over 30 distinct rare disorders generally known as ciliopathy are caused by abnormalities or functional impairments in cilia and cilia-related compartments. Because of the complexity of ciliopathies and the rising number of ciliopathies and ciliopathy genes, a ciliopathy-oriented and up-to-date database is required. Here, we present CiliaMiner, a manually curated ciliopathy database that includes ciliopathy lists collected from articles and databases. Analysis reveals that there are 55 distinct disorders likely related to ciliopathy, with over 4000 clinical manifestations. Based on comparative symptom analysis and subcellular localization data, diseases are classified as primary, secondary or atypical ciliopathies. CiliaMiner provides easy access to all of these diseases and disease genes, as well as clinical features and gene-specific clinical features, as well as subcellular localization of each protein. Additionally, the orthologs of disease genes are also provided for mice, zebrafish, Xenopus, Drosophila, Caenorhabditis elegans and Chlamydomonas reinhardtii. CiliaMiner (https://kaplanlab.shinyapps.io/ciliaminer) aims to serve the cilia community with its comprehensive content and highly enriched interactive heatmaps, and will be continually updated. Database URL: https://kaplanlab.shinyapps.io/ciliaminer/.

摘要

纤毛存在于真核生物物种中,从单细胞生物,如莱茵衣藻,到人类,但不存在于植物中。对排斥剂和/或吸引剂作出反应、调节细胞增殖和分化以及提供细胞迁移能力等只是纤毛对细胞和生物体至关重要的几个例子。超过 30 种不同的罕见疾病通常被称为纤毛病,是由纤毛和纤毛相关隔室的异常或功能障碍引起的。由于纤毛病的复杂性以及纤毛病和纤毛病基因的数量不断增加,需要一个面向纤毛病的最新数据库。在这里,我们展示了 CiliaMiner,这是一个手动整理的纤毛病数据库,其中包括从文章和数据库中收集的纤毛病列表。分析表明,有 55 种不同的疾病可能与纤毛病有关,有超过 4000 种临床表现。根据比较症状分析和亚细胞定位数据,疾病被分为原发性、继发性或非典型纤毛病。CiliaMiner 提供了对所有这些疾病和疾病基因的便捷访问,以及临床特征和基因特异性临床特征,以及每个蛋白质的亚细胞定位。此外,还为小鼠、斑马鱼、非洲爪蟾、果蝇、秀丽隐杆线虫和莱茵衣藻提供了疾病基因的同源物。CiliaMiner(https://kaplanlab.shinyapps.io/ciliaminer)旨在通过其全面的内容和高度丰富的交互式热图为纤毛社区提供服务,并将不断更新。数据库网址:https://kaplanlab.shinyapps.io/ciliaminer/。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6f7b/10403755/4bf9b3b800e6/baad047f1.jpg

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