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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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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.

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The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 51 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 22%
Student > Bachelor 7 14%
Student > Ph. D. Student 7 14%
Other 6 12%
Student > Doctoral Student 3 6%
Other 9 18%
Unknown 8 16%
Readers by discipline Count As %
Medicine and Dentistry 19 37%
Agricultural and Biological Sciences 8 16%
Biochemistry, Genetics and Molecular Biology 6 12%
Nursing and Health Professions 2 4%
Engineering 2 4%
Other 3 6%
Unknown 11 22%
Attention Score in Context

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
#12,913,597
of 22,785,242 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,257
of 2,614 outputs
Outputs of similar age
#176,830
of 351,346 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#15
of 31 outputs
Altmetric has tracked 22,785,242 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 2,614 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. 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 351,346 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.