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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Overview of attention for article published in BMC Medical Genetics, January 2016
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  • Good Attention Score compared to outputs of the same age (68th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

Mentioned by

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5 tweeters

Citations

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15 Dimensions

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25 Mendeley
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Title
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
Published in
BMC Medical Genetics, January 2016
DOI 10.1186/s12881-016-0267-5
Pubmed ID
Authors

Zuhair N. Al-Hassnan, Zarghuna MA. Shinwari, Salma M. Wakil, Sahar Tulbah, Shamayel Mohammed, Zuhair Rahbeeni, Mohammed Alghamdi, Monther Rababh, Dilek Colak, Namik Kaya, Majid Al-Fayyadh, Jehad Alburaiki

Abstract

Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessive mutations is rarely observed. In consanguineous families, homozygosity mapping and whole exome sequencing (WES) can be utilized to identify the genetic defects in recessively inherited DCM. In a consanguineous family with four affected siblings with severe DCM, we combined homozygosity mapping, linkage analysis and WES, to uncover the genetic defect. A region of homozygosity (ROH) on chromosome 8q24.13-24.23 was found to be shared by all of the four affected siblings. WES detected ~47,000 variants that were filtered to a homozygous mutation (p.Gly243Arg) in the FBXO32 gene, located within the identified ROH. The mutation segregated with the phenotype, replaced a highly-conserved amino acid, and was not detected in 1986 ethnically-matched chromosomes. FBXO32, which encodes a muscle-specific ubiquitin ligase, has been implicated in the pathogenesis of cardiomyopathy through the ubiquitin proteasome system (UPS). In addition, FBXO32-knockout mice manifest with cardiomyopathy. Screening the index patient for all of the WES variants in 48 genes known to be implicated in hypertrophic and dilated cardiomyopathy was negative. Our data suggest that FBXO32 is a candidate gene for recessive DCM. Acting as a cardiac ubiquitin ligase, mutated FBXO32 could perturb the degradation of target proteins in the UPS, the impairment of which has been observed in cardiomyopathy. Our work proposes that genes encoding other ubiquitin ligases could also be implicated in familial cardiomyopathy.

Twitter Demographics

The data shown below were collected from the profiles of 5 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 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 24%
Researcher 6 24%
Student > Ph. D. Student 3 12%
Student > Bachelor 2 8%
Other 1 4%
Other 1 4%
Unknown 6 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 28%
Agricultural and Biological Sciences 4 16%
Medicine and Dentistry 4 16%
Computer Science 1 4%
Earth and Planetary Sciences 1 4%
Other 1 4%
Unknown 7 28%

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 04 June 2016.
All research outputs
#7,083,564
of 22,034,959 outputs
Outputs from BMC Medical Genetics
#196
of 1,025 outputs
Outputs of similar age
#128,665
of 407,902 outputs
Outputs of similar age from BMC Medical Genetics
#22
of 95 outputs
Altmetric has tracked 22,034,959 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 1,025 research outputs from this source. They receive a mean Attention Score of 3.8. This one has done well, scoring higher than 80% 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 407,902 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 68% of its contemporaries.
We're also able to compare this research output to 95 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.