Endothelial
Adolescent
Adult
Aged
Angiopoietin-2
/ genetics
Animals
Capillaries
/ abnormalities
Cells, Cultured
Child
Child, Preschool
Endothelial Progenitor Cells
/ metabolism
Female
GTP-Binding Protein alpha Subunits, Gq-G11
/ genetics
Human Umbilical Vein Endothelial Cells
/ metabolism
Humans
Infant
Infant, Newborn
Male
Mice, Nude
Mutation
Neovascularization, Pathologic
Phenotype
Phospholipase C beta
/ genetics
Protein Kinase C
/ metabolism
Signal Transduction
Sturge-Weber Syndrome
/ genetics
Up-Regulation
GTP-binding protein alpha subunits
Sturge-Weber syndrome
angiopoietin-2
endothelial cells
port wine stain
Journal
Arteriosclerosis, thrombosis, and vascular biology
ISSN: 1524-4636
Titre abrégé: Arterioscler Thromb Vasc Biol
Pays: United States
ID NLM: 9505803
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
pubmed:
22
10
2021
medline:
18
1
2022
entrez:
21
10
2021
Statut:
ppublish
Résumé
Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome. The somatic mosaic mutation in Gαq-R183Q, when expressed in ECs, establishes constitutively active PLCβ3 signaling that leads to increased ANGPT2 and a proangiogenic, proinflammatory phenotype. EC-R183Q are sufficient to form enlarged CM-like vessels in mice, and suppression of ANGPT2 prevents the enlargement. Our study provides the first evidence that endothelial Gαq-R183Q is causative for CM and identifies ANGPT2 as a contributor to CM vascular phenotype.
Identifiants
pubmed: 34670408
doi: 10.1161/ATVBAHA.121.316651
pmc: PMC8702487
mid: NIHMS1747158
doi:
Substances chimiques
ANGPT2 protein, human
0
Angiopoietin-2
0
GNAQ protein, human
0
Protein Kinase C
EC 2.7.11.13
PLCB3 protein, human
EC 3.1.4.11
Phospholipase C beta
EC 3.1.4.11
GTP-Binding Protein alpha Subunits, Gq-G11
EC 3.6.5.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27-e43Subventions
Organisme : NINDS NIH HHS
ID : P30 NS045776
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL127030
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL141917
Pays : United States
Commentaires et corrections
Type : CommentIn
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