Characterization of <i>ANGPT2</i> mutations associated with primary lymphedema
Veli‐Matti Leppänen, Pascal Brouillard, Emilia A. Korhonen, Tuomas Sipilä, Sawan Kumar Jha, Nicole Revençu, Veerle Labarque, Elodie Fastré, Matthieu J. Schlögel, Marie Ravoet, Amihood Singer, C. Luzzatto, Donatella Angelone, Giovanni Crichiutti, Angela D’Elia, Jaakko Kuurne, Harri Elamaa, Gou Young Koh, Pipsa Saharinen, Miikka Vikkula, Kari Alitalo
Abstract
Loss-of-function mutations in the TIE2-ligand angiopoietin 2 are associated with primary lymphedema in humans.
Topics & Concepts
Angiopoietin receptorMissense mutationBiologyLymphatic systemLymphedemaCancer researchLymphatic EndotheliumLymphangiogenesisCell biologyMutantMutationImmunologyGeneticsGeneAngiogenesisCancerBreast cancerMetastasisLymphatic System and DiseasesAngiogenesis and VEGF in CancerCoagulation, Bradykinin, Polyphosphates, and Angioedema