Title |
A novel mutation in CELSR1 is associated with hereditary lymphedema
|
---|---|
Published in |
Vascular Cell, February 2016
|
DOI | 10.1186/s13221-016-0035-5 |
Pubmed ID | |
Authors |
M. L. Gonzalez-Garay, M. B. Aldrich, J. C. Rasmussen, R. Guilliod, P. E. Lapinski, P. D. King, E. M. Sevick-Muraca |
Abstract |
Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans. In this report, a rare early inactivating mutation in CELSR1 is found to be causal for non-syndromic, lower extremity lymphedema in a family across three generations. Near-infrared fluorescence lymphatic imaging shows that instead of being propelled within the lumen of well-defined lymphatic vessels, lymph moved in regions of both legs in an unusual fashion and within sheet-like structures. CELSRI may be responsible for primary, non-syndromic lymphedema in humans. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 39 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 14 | 36% |
Researcher | 4 | 10% |
Student > Doctoral Student | 2 | 5% |
Student > Bachelor | 2 | 5% |
Student > Master | 2 | 5% |
Other | 5 | 13% |
Unknown | 10 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 9 | 23% |
Medicine and Dentistry | 5 | 13% |
Agricultural and Biological Sciences | 3 | 8% |
Engineering | 3 | 8% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 4 | 10% |
Unknown | 14 | 36% |