.png){kind=icon}
返回
Capillary malformations
.png){kind=icon}
OA
AI
DOI：10.1172/JCI172842.png)
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
摘要
En 中文
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit alpha (G alpha q) in CM and SWS patient tissues. In this Review, we discuss the disease phenotype, the causative GNAQ mutations, and their cellular origin. We also present the endothelial G alpha q- related signaling pathways, the current animal models to study CM and its complications, and future options for therapeutic treatment. Further work remains to fully elucidate the cellular and molecular mechanisms underlying the formation and maintenance of the abnormal vessels.
Keyword:
ENDOTHELIAL GROWTH-FACTOR
SOMATIC GNAQ MUTATION
STURGE-WEBER SYNDROME
PORT-WINE STAIN
PULSED DYE-LASER
UVEAL MELANOMA
VASCULAR-PERMEABILITY
ACTIVATING MUTATIONS
ALPHA-SUBUNITS
MOUSE MODEL
AI总结
对已上传原文的论文进行重点信息的提取，主要内容包括：简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。
期刊
IF:
13.6
论文数:
1.5W
被引数:
11.5W
机构
引用论文
分享收藏分享收藏Dual inhibition of β-adrenergic and angiotensin II receptors by a single antagonist -: A functional role for receptor-receptor interaction in vivo.png)
CIRCULATIONOAAI
CIRCULATIONIF38.6
OAAI分享收藏
查看更多内容