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DNA methylation abnormalities in congenital heart disease

Overview of attention for article published in Epigenetics, January 2015
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  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

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Title
DNA methylation abnormalities in congenital heart disease
Published in
Epigenetics, January 2015
DOI 10.1080/15592294.2014.998536
Pubmed ID
Authors

Clara Serra-Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán, Luis A Pérez-Jurado

Abstract

ABSTRACT Congenital heart defects represent the most common malformation at birth, occurring also in ˜50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 121 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 <1%
Hong Kong 1 <1%
Canada 1 <1%
Unknown 118 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 18 15%
Student > Bachelor 18 15%
Student > Ph. D. Student 17 14%
Student > Master 16 13%
Student > Doctoral Student 7 6%
Other 13 11%
Unknown 32 26%
Readers by discipline Count As %
Medicine and Dentistry 29 24%
Biochemistry, Genetics and Molecular Biology 27 22%
Agricultural and Biological Sciences 16 13%
Nursing and Health Professions 5 4%
Engineering 3 2%
Other 8 7%
Unknown 33 27%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 April 2015.
All research outputs
#7,206,491
of 22,778,347 outputs
Outputs from Epigenetics
#446
of 1,205 outputs
Outputs of similar age
#101,098
of 353,651 outputs
Outputs of similar age from Epigenetics
#16
of 42 outputs
Altmetric has tracked 22,778,347 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 1,205 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one has gotten more attention than average, scoring higher than 61% of its peers.
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 353,651 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 70% of its contemporaries.
We're also able to compare this research output to 42 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.