Characterization of
Journal
Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086
Informations de publication
Date de publication:
09 09 2020
09 09 2020
Historique:
received:
24
04
2019
revised:
31
12
2019
accepted:
14
08
2020
entrez:
10
9
2020
pubmed:
11
9
2020
medline:
24
6
2021
Statut:
ppublish
Résumé
Primary lymphedema is caused by developmental and functional defects of the lymphatic vascular system that result in accumulation of protein-rich fluid in tissues, resulting in edema. The 28 currently known genes causing primary lymphedema can explain <30% of cases. Angiopoietin 1 (ANGPT1) and ANGPT2 function via the TIE1-TIE2 (tyrosine kinase with immunoglobulin-like and epidermal growth factor-like domains 1 and 2) receptor complex and α5β1 integrin to form an endothelial cell signaling pathway that is critical for blood and lymphatic vessel formation and remodeling during embryonic development, as well as for homeostasis of the mature vasculature. By screening a cohort of 543 individuals affected by primary lymphedema, we identified one heterozygous de novo
Identifiants
pubmed: 32908006
pii: 12/560/eaax8013
doi: 10.1126/scitranslmed.aax8013
pii:
doi:
Substances chimiques
ANGPT2 protein, human
0
Angiopoietin-1
0
Angiopoietin-2
0
Receptor, TIE-2
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.