GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models.
GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models.
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DOI：
10.3389/fnhum.2022.1006027
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发表时间：
2022
影响因子：
2.9
通讯作者：
中科院分区：
文献类型：
--
作者：
葡萄酒胎记（PWB）是由G蛋白鸟嘌呤核苷酸结合蛋白α亚基q（GNAQ）中的体细胞嵌合突变引起的，其特征在于真皮、眼睛和/或大脑中扩张的功能障碍性血管的形成。皮肤PWB可以通过目前的皮肤病学治疗（如激光介入）来治疗，以减轻病变并减少病变中出现的结节。眼睛和/或大脑的参与可能导致严重的并发症，这种变异被称为Sturge-Weber综合征（SWS）。阻止新疗法开发的一些最大障碍是关于疾病生物学的未回答的问题和缺乏药物筛选模型。在这篇综述中，我们讨论了目前对GNAQ信号传导的理解，患者的护理标准，与其他GNAQ相关或表型相似疾病的重叠，以及目前体内和体外血管畸形模型的缺陷。
Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current in vivo and in vitro vascular malformation models.
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影响因子：
16.2
作者：
Chen Y;Granger AJ;Tran T;Saulnier JL;Kirkwood A;Sabatini BL
通讯作者：
Sabatini BL
影响因子：
3.2
作者：
Bichsel C;Bischoff J
通讯作者：
Bischoff J
毛细血管畸形的内皮细胞富含体细胞 GNAQ 突变。
影响因子：
3.6
作者：
Couto JA;Huang L;Vivero MP;Kamitaki N;Maclellan RA;Mulliken JB;Bischoff J;Warman ML;Greene AK
通讯作者：
Greene AK
影响因子：
3
作者：
Frederick AL;Saborido TP;Stanwood GD
通讯作者：
Stanwood GD
影响因子：
8.3
作者：
Cordonnier, Charlotte;Klijn, Catharina J. M.;Salman, Rustam Al-Shahi
通讯作者：
Salman, Rustam Al-Shahi