CyFidb: A Molecular Atlas for Cystic Fibrosis.

IF 5.4 2区医学 Q1 RESPIRATORY SYSTEM

Journal of Cystic Fibrosis Pub Date : 2025-03-26 DOI:10.1016/j.jcf.2025.03.011

Catarina Pereira, Margarida D Amaral, Andre O Falcao

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引用次数: 0

Abstract

Background: Cystic fibrosis (CF) is a disease triggered by more than 2,100 variants in a single gene encoding for the CF Transmembrane Conductance Regulator (CFTR) protein, which is expressed in epithelial cells, where it functions an anion channel. A new era of high-throughput technologies ('omics') enabled the production and exploration of large CF-related datasets with unprecedented detail. However, this knowledge is scattered among different resources thus requiring a significant amount of time and training to collect and exploit. The objective of this work is to build a resource (CyFidb) that concentrates CF-related information in a single repository.

Methods: This tool results from the intense manual curation of 407 scientific articles, including studies with CFTR variants in distinct conditions, drug treatments and cells/tissues.

Results: CyFidb is divided into three levels of information: protein-protein interactions, gene expression and functional studies, from which it is possible to search and extract information.

Conclusions: CyFidb is an open-access resource (https://cyfidb.di.fc.ul.pt) designed to provide continuously updated, curated information on CFTR variants and their associated biological data.

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CyFidb：囊性纤维化的分子图谱。

背景：囊性纤维化（CF）是一种由编码CF跨膜传导调节蛋白（CFTR）的单个基因的2100多种变异引发的疾病，CFTR蛋白在上皮细胞中表达，在上皮细胞中起负离子通道的作用。高通量技术（“组学”）的新时代使生产和探索具有前所未有细节的大型cf相关数据集成为可能。然而，这些知识分散在不同的资源中，因此需要大量的时间和培训来收集和利用。这项工作的目标是构建一个资源（CyFidb），将cf相关的信息集中在单个存储库中。方法：该工具来自407篇科学文章的密集人工管理，包括不同条件下CFTR变异、药物治疗和细胞/组织的研究。结果：CyFidb分为蛋白-蛋白相互作用、基因表达和功能研究三个层次的信息，可以从中搜索和提取信息。CyFidb是一个开放获取的资源（https://cyfidb.di.fc.ul.pt），旨在提供CFTR变异及其相关生物学数据的持续更新、精心策划的信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Cystic Fibrosis 医学-呼吸系统

CiteScore

10.10

自引率

13.50%

发文量

1361

审稿时长

50 days

期刊介绍： The Journal of Cystic Fibrosis is the official journal of the European Cystic Fibrosis Society. The journal is devoted to promoting the research and treatment of cystic fibrosis. To this end the journal publishes original scientific articles, editorials, case reports, short communications and other information relevant to cystic fibrosis. The journal also publishes news and articles concerning the activities and policies of the ECFS as well as those of other societies related the ECFS.