Thanh Nhàn、Sanjay Ganesh、Daniel E. Maidana、Michael J. Heiferman 和 Kaori H. Yamada 等研究人员,在《Signal Transduction and Targeted Therapy》期刊上发表了题为 “Uveal melanoma with a GNA11/GNAQ mutation secretes VEGF for systemic spread” 的论文。这一研究成果对于深入理解葡萄膜黑色素瘤(UM)的...
A GNA11 mutation was found in 8/11 cases and a GNAQ mutation in 1 case. Seven of 11 cases showed loss of nuclear BAP1 immunohistochemical (IHC) expression in the malignant component, sparing the adjacent nevus. Array comparative genomic hybridization revealed recurrent deletions of chromosom...
GNA11 GNA11基因所编码的蛋白属于鸟嘌呤核苷酸结合蛋白(G蛋白)的家族,它在不同的跨膜信号系统中作为调节器或传感器。这个基因突变与II型高钙血症型和常染色体显性低血钙症。GNA11与GNAQ形成的复合物为G蛋白α亚基,这两个基因调控细胞分裂,增强MEK(有丝分裂原活化蛋白激酶的激酶)蛋白活性,在80%的葡萄膜黑色素瘤病...
Conclusions : The type of mutation (Q209P/Q209L) and location of mutation (GNA11/GNAQ) did not have a significant effect on HLA Class I expression or survival, which was opposite to our hypothesis. These early mutations therefore do not explain the difference in inflammation or development ...
(Sigma) as human UM cell lines. Note: UM are usually initiated by a mutation in GNAQ or GNA11, thus, almost all UM carry a mutation in GNAQ or GNA11.1The leakage areas were visualized by Alexa555-labeled streptavidin, which is trapped in the biotinylated gelatin at the site of the ...
SHORT COMMUNICATION British Journal of Cancer (2017) 117, 884–887 | doi: 10.1038/bjc.2017.259 Keywords: choroidal nevi; uveal melanoma; GNAQ; GNA11; YAP; droplet digital PCR; mutation GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi M J C Vader1,2, M C Madigan2,...
MUTATION Q209关于我们 “基因医生”项目,可以为肿瘤患者提供全流程逐级的治疗方案与治疗手段。本项目创始科学家团队在基础医学研究领域拥有丰厚实战经验,以NGS及RNA-SEQ基因检测技术为基础,通过对海量研究文献深入整理,归纳,再挖掘,再分析;依靠研究团队多年来对细胞信号通路,肿瘤免疫,细胞治疗等研究领域的深刻理解,全面...
A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue. Conclusions and Relevance These findings support a unifying diagnosis of congenital hemangioma for these vascular tumors. To date, this is the first-reported case of a hemangiomatosis pres...
GNA11蛋白GNA14蛋白内皮细胞类风湿关节炎类风湿关节炎(Rheumatoid arthritis, RA)是风湿科常见疾病,其以多种自身抗体阳性,骨,软骨破坏以及多器官系统受累为特征,其... 赵颖杰 - 《山东大学》 被引量: 1发表: 2014年 Identification of a VPS13A founder mutation in French Canadian families with chorea-acantho...
Postzygotic GNA11 mutationCutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease ...