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The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2016
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (55th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (56th percentile)

Mentioned by

twitter
5 tweeters

Citations

dimensions_citation
47 Dimensions

Readers on

mendeley
46 Mendeley
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Title
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases
Published in
Orphanet Journal of Rare Diseases, June 2016
DOI 10.1186/s13023-016-0459-2
Pubmed ID
Authors

Beth G. Gibson, Michael D. Briggs

Abstract

The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation. However, very little is currently known about the disease pathways that underlie these aggrecanopathies, although they are likely to be a combination of haploinsufficiency and dominant-negative (neomorphic) mechanisms. This review discusses the known human and animal aggrecanopathies in the context of clinical presentation and potential disease mechanisms.

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 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 46 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 24%
Student > Bachelor 6 13%
Student > Ph. D. Student 6 13%
Other 5 11%
Student > Doctoral Student 3 7%
Other 9 20%
Unknown 6 13%
Readers by discipline Count As %
Medicine and Dentistry 18 39%
Agricultural and Biological Sciences 7 15%
Biochemistry, Genetics and Molecular Biology 6 13%
Engineering 2 4%
Pharmacology, Toxicology and Pharmaceutical Science 1 2%
Other 3 7%
Unknown 9 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 30 December 2021.
All research outputs
#12,154,181
of 21,436,792 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,158
of 2,413 outputs
Outputs of similar age
#121,370
of 276,652 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#9
of 23 outputs
Altmetric has tracked 21,436,792 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,413 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 50% 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 276,652 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 55% of its contemporaries.
We're also able to compare this research output to 23 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 56% of its contemporaries.