CiliaMiner:一个针对纤毛病基因和纤毛病的综合数据库
Merve Gül Turan1,2, Mehmet Emin Orhan2, Sebiha Cevik1
1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Sumer Kampusu, Kayseri 38080, Turkey.
Database : the journal of biological databases and curation
|August 5, 2023
概括
毛对于许多细胞功能至关重要,它们的缺陷导致毛病. CiliaMiner是一个新的数据库,列出了55种纤毛病及其临床特征,有助于研究这些罕见的遗传疾病.
科学领域:
- 细胞生物学 细胞生物学
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
背景情况:
- 毛是关键的真核细胞器官,参与各种细胞功能,包括信号传递和运动.
- 毛的缺陷会导致30多种罕见的遗传疾病,这些疾病被统称为毛病.
- 越来越多的确诊的纤毛病和相关基因需要一个集中,更新的资源.
研究的目的:
- 为了介绍CiliaMiner,一个手动策划的纤毛病的数据库.
- 为纤毛病研究提供全面的资源,包括疾病分类,临床表现和基因信息.
主要方法:
- 从科学文献和现有数据库中手动编制纤毛病列表.
- 对临床表现和亚细胞局部化数据进行疾病分类的分析.
- 整合关键模型生物的ortolog信息.
主要成果:
- 确定了55种可能与纤毛病相关的不同疾病,包括4000多种临床表现.
- 根据症状和局部化数据将疾病分为初级,二级和非典型的纤毛病.
- 包括有关疾病,基因,临床特征,蛋白质定位和骨科的详细信息.
结论:
- CiliaMiner为研究社区提供了一个全面和互动的平台.
- 该数据库可方便访问精选的纤毛病数据,有助于理解和诊断这些复杂的疾病.
- CiliaMiner将不断更新,以反映纤毛病研究的不断变化的景观.
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