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CyFi-MAP: an interactive pathway-based resource for cystic fibrosis

Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the...

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Autores principales: Pereira, Catarina, Mazein, Alexander, Farinha, Carlos M., Gray, Michael A., Kunzelmann, Karl, Ostaszewski, Marek, Balaur, Irina, Amaral, Margarida D., Falcao, Andre O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8592983/
https://www.ncbi.nlm.nih.gov/pubmed/34782688
http://dx.doi.org/10.1038/s41598-021-01618-3
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author Pereira, Catarina
Mazein, Alexander
Farinha, Carlos M.
Gray, Michael A.
Kunzelmann, Karl
Ostaszewski, Marek
Balaur, Irina
Amaral, Margarida D.
Falcao, Andre O.
author_facet Pereira, Catarina
Mazein, Alexander
Farinha, Carlos M.
Gray, Michael A.
Kunzelmann, Karl
Ostaszewski, Marek
Balaur, Irina
Amaral, Margarida D.
Falcao, Andre O.
author_sort Pereira, Catarina
collection PubMed
description Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/. This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.
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spelling pubmed-85929832021-11-16 CyFi-MAP: an interactive pathway-based resource for cystic fibrosis Pereira, Catarina Mazein, Alexander Farinha, Carlos M. Gray, Michael A. Kunzelmann, Karl Ostaszewski, Marek Balaur, Irina Amaral, Margarida D. Falcao, Andre O. Sci Rep Article Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/. This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research. Nature Publishing Group UK 2021-11-15 /pmc/articles/PMC8592983/ /pubmed/34782688 http://dx.doi.org/10.1038/s41598-021-01618-3 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Pereira, Catarina
Mazein, Alexander
Farinha, Carlos M.
Gray, Michael A.
Kunzelmann, Karl
Ostaszewski, Marek
Balaur, Irina
Amaral, Margarida D.
Falcao, Andre O.
CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_full CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_fullStr CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_full_unstemmed CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_short CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_sort cyfi-map: an interactive pathway-based resource for cystic fibrosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8592983/
https://www.ncbi.nlm.nih.gov/pubmed/34782688
http://dx.doi.org/10.1038/s41598-021-01618-3
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