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

Vilardell, M., Civit, S., & Herwig, R. (2013). An integrative computational analysis provides evidence for FBN1-associated network de-regulation in trisomy 21. Biology Open, 2(8), 771-778. doi:10.1242/bio.20134408.

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Vilardell.pdf (Verlagsversion), 390KB
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© 2013. Published by The Company of Biologists Ltd

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 Urheber:
Vilardell, Mireia1, Autor           
Civit, Sergi , Autor
Herwig, Ralf2, Autor           
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479648              

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Schlagwörter: Bioinformatics; Cardiovascular; Down Syndrome; Heart; Marfan Syndrome
 Zusammenfassung: 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.

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Sprache(n): eng - English
 Datum: 2013-06-202013-08-15
 Publikationsstatus: Erschienen
 Seiten: 8
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 Inhaltsverzeichnis: -
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 Identifikatoren: DOI: 10.1242/bio.20134408
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Titel: Biology Open
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Cambridge, UK : The Company of Biologists
Seiten: - Band / Heft: 2 (8) Artikelnummer: - Start- / Endseite: 771 - 778 Identifikator: ISSN: 2046-6390 (online)