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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Overview of attention for article published in Genes, August 2018
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Title
Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression
Published in
Genes, August 2018
DOI 10.3390/genes9090421
Pubmed ID
Authors

Louise Benarroch, Mélodie Aubart, Marie-Sylvie Gross, Marie-Paule Jacob, Pauline Arnaud, Nadine Hanna, Guillaume Jondeau, Catherine Boileau

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed that fibrillin-1 (FBN1) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity. Therefore, an expression quantitative trait loci (eQTL) analysis was performed to identify trans-acting regulators of FBN1 expression, and a significant signal reached genome-wide significant threshold on chromosome 11. This signal delineated a region comprising one expressed gene, SLN (encoding sarcolipin), and a single pseudogene, SNX7-ps1 (CTD-2651C21.3). We first investigated the region and then looked for association between the genes in the region and FBN1 expression. For the first time, we showed that the SLN gene is weakly expressed in skin fibroblasts. There is no direct correlation between SLN and FBN1 gene expression. We showed that calcium influx modulates FBN1 gene expression. Finally, SLN gene expression is highly correlated to that of the neighboring SNX7-ps1. We were able to confirm the impact of calcium influx on FBN1 gene expression but we could not conclude regarding the role of sarcolipin and/or the eQTL locus in this regulation.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 21 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 29%
Student > Master 3 14%
Other 2 10%
Student > Ph. D. Student 2 10%
Student > Doctoral Student 1 5%
Other 1 5%
Unknown 6 29%
Readers by discipline Count As %
Medicine and Dentistry 8 38%
Biochemistry, Genetics and Molecular Biology 4 19%
Agricultural and Biological Sciences 2 10%
Psychology 1 5%
Engineering 1 5%
Other 0 0%
Unknown 5 24%
Attention Score in Context

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 24 August 2018.
All research outputs
#17,987,988
of 23,100,534 outputs
Outputs from Genes
#3,784
of 5,582 outputs
Outputs of similar age
#239,623
of 333,760 outputs
Outputs of similar age from Genes
#79
of 119 outputs
Altmetric has tracked 23,100,534 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 5,582 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 27th percentile – i.e., 27% of its peers scored the same or lower than it.
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We're also able to compare this research output to 119 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.