| First Author | Brouillard P | Year | 2014 |
| Journal | J Clin Invest | Volume | 124 |
| Issue | 3 | Pages | 898-904 |
| PubMed ID | 24590274 | Mgi Jnum | J:209628 |
| Mgi Id | MGI:5568197 | Doi | 10.1172/JCI71614 |
| Citation | Brouillard P, et al. (2014) Genetics of lymphatic anomalies. J Clin Invest 124(3):898-904 |
| abstractText | Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors. |
