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Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2014
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  • Above-average Attention Score compared to outputs of the same age (59th percentile)
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Citations

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Title
Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency
Published in
Orphanet Journal of Rare Diseases, July 2014
DOI 10.1186/s13023-014-0103-y
Pubmed ID
Authors

Alberto López-Lera, Olga Pernia, Margarita López-Trascasa, Inmaculada Ibanez de Caceres

Abstract

SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. To further investigate mechanisms for its reduced expression, we analyzed the promoter DNA methylation status of SERPING1 and its influence on C1-INH expression. Global epigenetic reactivation correlated with C1-INH mRNA synthesis and protein secretion in Huh7 hepatoma cells. However, PBMCs extracted from controls, HAE-I and HAE-II patients presented identical methylation status of the SERPING1 promoter when analyzed by bisulphite sequencing; the proximal CpG island (exon 2) is constitutively unmethylated, while the most distant one (5.7Kb upstream the transcriptional start site) is fully methylated. These results correlate with the methylation profile observed in Huh7 cells and indicate that there is not a direct epigenetic regulation of C1-INH expression in PBMCs specific for each HAE type. Other indirect modes of epigenetic regulation cannot be excluded.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters 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 134 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Turkey 1 <1%
Unknown 133 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 4%
Student > Bachelor 4 3%
Student > Ph. D. Student 4 3%
Professor 2 1%
Student > Master 2 1%
Other 2 1%
Unknown 114 85%
Readers by discipline Count As %
Medicine and Dentistry 8 6%
Biochemistry, Genetics and Molecular Biology 3 2%
Agricultural and Biological Sciences 3 2%
Veterinary Science and Veterinary Medicine 2 1%
Immunology and Microbiology 2 1%
Other 1 <1%
Unknown 115 86%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 01 October 2015.
All research outputs
#6,844,028
of 12,378,406 outputs
Outputs from Orphanet Journal of Rare Diseases
#749
of 1,338 outputs
Outputs of similar age
#79,556
of 200,448 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#24
of 46 outputs
Altmetric has tracked 12,378,406 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,338 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one is in the 43rd percentile – i.e., 43% 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 200,448 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.