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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 40% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
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Scientists | 3 | 60% |
Members of the public | 1 | 20% |
Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
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% |