Further processing options
online resource

An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21

Bibliographic Details
Journal Title: Biology Open
Authors and Corporations: Vilardell, Mireia, Civit, Sergi, Herwig, Ralf
In: Biology Open, 2, 2013, 8, p. 771-778
Type of Resource: E-Article
Language: English
published:
The Company of Biologists
Subjects:
finc.format ElectronicArticle
finc.mega_collection The Company of Biologists (CrossRef)
finc.id ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTI0Mi9iaW8uMjAxMzQ0MDg
finc.source_id 49
ris.type EJOUR
rft.atitle An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
rft.epage 778
rft.genre article
rft.issn 2046-6390
rft.issue 8
rft.jtitle Biology Open
rft.tpages 8
rft.pages 771-778
rft.pub The Company of Biologists
rft.date 2013-08-15
x.date 2013-08-15T00:00:00Z
rft.spage 771
rft.volume 2
abstract <jats:title>Summary</jats:title> <jats:p>Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics.</jats:p>
authors Array ( [rft.aulast] => Vilardell [rft.aufirst] => Mireia )
Array ( [rft.aulast] => Civit [rft.aufirst] => Sergi )
Array ( [rft.aulast] => Herwig [rft.aufirst] => Ralf )
doi 10.1242/bio.20134408
languages eng
url http://dx.doi.org/10.1242/bio.20134408
version 0.9
x.subjects General Agricultural and Biological Sciences
General Biochemistry, Genetics and Molecular Biology
x.type journal-article
x.oa 1
openURL url_ver=Z39.88-2004&ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fwww.ub.uni-leipzig.de%3Agenerator&rft.title=An+integrative+computational+analysis+provides+evidence+for+FBN1-associated+network+deregulation+in+trisomy+21&rft.date=2013-08-15&genre=article&issn=2046-6390&volume=2&issue=8&spage=771&epage=778&pages=771-778&jtitle=Biology+Open&atitle=An+integrative+computational+analysis+provides+evidence+for+FBN1-associated+network+deregulation+in+trisomy+21&aulast=Herwig&aufirst=Ralf&rft_id=info%3Adoi%2F10.1242%2Fbio.20134408&rft.language%5B0%5D=eng
SOLR
_version_ 1710348575646416900
access_facet Electronic Resources
author Vilardell, Mireia, Civit, Sergi, Herwig, Ralf
author_facet Vilardell, Mireia, Civit, Sergi, Herwig, Ralf, Vilardell, Mireia, Civit, Sergi, Herwig, Ralf
author_sort vilardell, mireia
branch_nrw Electronic Resources
container_issue 8
container_start_page 771
container_title Biology Open
container_volume 2
description <jats:title>Summary</jats:title> <jats:p>Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics.</jats:p>
facet_avail Online, Free
format ElectronicArticle
format_de105 Article, E-Article
format_de14 Article, E-Article
format_de15 Article, E-Article
format_de520 Article, E-Article
format_de540 Article, E-Article
format_dech1 Article, E-Article
format_ded117 Article, E-Article
format_degla1 E-Article
format_del152 Buch
format_del189 Article, E-Article
format_dezi4 Article
format_dezwi2 Article, E-Article
format_finc Article, E-Article
format_nrw Article, E-Article
geogr_code not assigned
geogr_code_person not assigned
id ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTI0Mi9iaW8uMjAxMzQ0MDg
imprint The Company of Biologists, 2013
imprint_str_mv The Company of Biologists, 2013
institution DE-Bn3, DE-Pl11, DE-Zwi2, DE-L229, DE-15, DE-Brt1, DE-Gla1, DE-82, DE-105, DE-Zi4, DE-Rs1, DE-14, DE-D275, DE-D161, DE-Ch1
issn 2046-6390
language English
last_indexed 2021-09-08T15:38:28.108Z
mega_collection The Company of Biologists (CrossRef)
physical 771-778
publishDate 2013
publishDateSort 2013
publisher The Company of Biologists
recordtype ai
score 18,694372
series Biology Open
source_id 49
spelling Vilardell, Mireia Civit, Sergi Herwig, Ralf 2046-6390 The Company of Biologists General Agricultural and Biological Sciences General Biochemistry, Genetics and Molecular Biology http://dx.doi.org/10.1242/bio.20134408 <jats:title>Summary</jats:title> <jats:p>Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics.</jats:p> An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 Biology Open
spellingShingle Vilardell, Mireia, Civit, Sergi, Herwig, Ralf, Biology Open, An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21, General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology
title An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
title_full An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
title_fullStr An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
title_full_unstemmed An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
title_short An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
title_sort an integrative computational analysis provides evidence for fbn1-associated network deregulation in trisomy 21
topic General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology
url http://dx.doi.org/10.1242/bio.20134408