| Title |
An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures
|
|---|---|
| Published in |
PLOS ONE, September 2010
|
| DOI | 10.1371/journal.pone.0012817 |
| Pubmed ID | |
| Authors |
Hannah L. Bader, Alison L. Ruhe, Lauren W. Wang, Aaron K. Wong, Kari F. Walsh, Rebecca A. Packer, Jonathan Mitelman, Kathryn R. Robertson, Dennis P. O'Brien, Karl W. Broman, G. Diane Shelton, Suneel S. Apte, Mark W. Neff |
| Abstract |
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a major component of tissue microfibrils. The objective of this work was to determine the genetic basis of MLS and the molecular consequence of the identified mutation. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 3% |
| Portugal | 1 | 3% |
| Italy | 1 | 3% |
| Unknown | 35 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 10 | 26% |
| Researcher | 5 | 13% |
| Other | 4 | 11% |
| Professor > Associate Professor | 3 | 8% |
| Lecturer | 2 | 5% |
| Other | 5 | 13% |
| Unknown | 9 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 26% |
| Agricultural and Biological Sciences | 7 | 18% |
| Veterinary Science and Veterinary Medicine | 6 | 16% |
| Biochemistry, Genetics and Molecular Biology | 3 | 8% |
| Social Sciences | 2 | 5% |
| Other | 3 | 8% |
| Unknown | 7 | 18% |