Author(s) Brouillard P, Boon L, Vikkula M, et al.

Journal The Journal of clinical investigation. Date of publication 2014 Mar 1;volume 124(3):898-904.

Abstract 1. J Clin Invest. 2014 Mar;124(3):898-904. doi: 10.1172/JCI71614. Epub 2014 Mar 3. Genetics of lymphatic anomalies. Brouillard P, Boon L, Vikkula M. 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. DOI: 10.1172/JCI71614 PMCID: PMC3938256 PMID: 24590274 [Indexed for MEDLINE]

Source ID (e.g. PMID): 24590274