↓ Skip to main content

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

Overview of attention for article published in Biology Open, June 2013
Altmetric Badge

Mentioned by

twitter
1 tweeter

Readers on

mendeley
10 Mendeley
Title
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
Published in
Biology Open, June 2013
DOI 10.1242/bio.20134408
Pubmed ID
Authors

M. Vilardell, S. Civit, R. Herwig

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.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 30%
Student > Ph. D. Student 3 30%
Other 2 20%
Student > Bachelor 1 10%
Unspecified 1 10%
Other 0 0%
Readers by discipline Count As %
Agricultural and Biological Sciences 3 30%
Biochemistry, Genetics and Molecular Biology 2 20%
Mathematics 1 10%
Unspecified 1 10%
Psychology 1 10%
Other 1 10%
Unknown 1 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 March 2014.
All research outputs
#11,083,649
of 12,465,602 outputs
Outputs from Biology Open
#820
of 911 outputs
Outputs of similar age
#159,694
of 190,877 outputs
Outputs of similar age from Biology Open
#9
of 14 outputs
Altmetric has tracked 12,465,602 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 911 research outputs from this source. They receive a mean Attention Score of 4.2. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 190,877 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.