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DC Field | Value | Language |
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dc.contributor.author | Vilardell, Mireia | - |
dc.contributor.author | Civit Vives, Sergi | - |
dc.contributor.author | Herwig, R. | - |
dc.date.accessioned | 2014-03-26T10:59:56Z | - |
dc.date.available | 2014-03-26T10:59:56Z | - |
dc.date.issued | 2013-06-25 | - |
dc.identifier.issn | 1874-1967 | - |
dc.identifier.uri | http://hdl.handle.net/2445/52997 | - |
dc.description.abstract | 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. | - |
dc.format.extent | 8 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Bentham Open | - |
dc.relation.isformatof | Reproducció del document publicat a: http://dx.doi.org/10.1242/bio.20134408 | - |
dc.relation.ispartof | The Open Biology Journal, 2013, vol. 2, p. 771-778 | - |
dc.relation.uri | http://dx.doi.org/10.1242/bio.20134408 | - |
dc.rights | cc-by-nc (c) Vilardell, M. et al., 2013 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Síndrome de Down | - |
dc.subject.classification | Genètica | - |
dc.subject.classification | Malalties coronàries | - |
dc.subject.classification | Bioinformàtica | - |
dc.subject.other | Down syndrome | - |
dc.subject.other | Genetics | - |
dc.subject.other | Coronary diseases | - |
dc.subject.other | Bioinformatics | - |
dc.title | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 | eng |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 636913 | - |
dc.date.updated | 2014-03-26T10:59:56Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 23951402 | - |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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