RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape.

IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Database: The Journal of Biological Databases and Curation Pub Date : 2024-10-16 DOI:10.1093/database/baae109
Nico Cillari, Giuseppe Neri, Nadia Pisanti, Paolo Milazzo, Ugo Borello
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Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females and leading to a variety of impairments and disabilities from mild to severe. In >95% cases, RTT is due to mutations in the X-linked gene MECP2, but the molecular mechanisms determining RTT are unknown at present, and the complexity of the system is challenging. To facilitate and provide guidance to the unraveling of those mechanisms, we developed a database resource for the visualization and analysis of the genomic landscape in the context of wild-type or mutated Mecp2 gene in the mouse model. Our resource allows for the exploration of differential dynamics of gene expression and the prediction of new potential MECP2 target genes to decipher the RTT disorder molecular mechanisms. Database URL: https://biomedinfo.di.unipi.it/rett-database/.

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RettDb:Rett 综合征组学数据库,用于浏览 Rett 综合征基因组图谱。
雷特综合征(RTT)是一种神经发育障碍性疾病,几乎只发生在女性身上,会导致从轻度到重度的各种损伤和残疾。在超过 95% 的病例中,RTT 是由 X 连锁基因 MECP2 的突变引起的,但目前决定 RTT 的分子机制尚不清楚,该系统的复杂性也极具挑战性。为了促进和指导这些机制的揭示,我们开发了一个数据库资源,用于可视化和分析小鼠模型中野生型或突变型 Mecp2 基因的基因组图谱。我们的资源可用于探索基因表达的不同动态,并预测新的潜在 MECP2 靶基因,以破译 RTT 紊乱的分子机制。数据库网址:https://biomedinfo.di.unipi.it/rett-database/。
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来源期刊
Database: The Journal of Biological Databases and Curation
Database: The Journal of Biological Databases and Curation MATHEMATICAL & COMPUTATIONAL BIOLOGY-
CiteScore
9.00
自引率
3.40%
发文量
100
审稿时长
>12 weeks
期刊介绍: Huge volumes of primary data are archived in numerous open-access databases, and with new generation technologies becoming more common in laboratories, large datasets will become even more prevalent. The archiving, curation, analysis and interpretation of all of these data are a challenge. Database development and biocuration are at the forefront of the endeavor to make sense of this mounting deluge of data. Database: The Journal of Biological Databases and Curation provides an open access platform for the presentation of novel ideas in database research and biocuration, and aims to help strengthen the bridge between database developers, curators, and users.
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