MAP2K1/2基因突变黑色素瘤的免疫微环境特征 使用TCGA皮肤黑色素瘤队列(SKCM)的RNA数据,评估免疫相关细胞特征(基于TIMER工具),发现携带MAP2K1/2基因突变的肿瘤相比于MAP2K1/2基因野生型的肿瘤,有显著更高的B细胞、CD8+ T细胞、中性粒细胞的浸润水...
Specifically, 19p13.3 deletion including MAP2K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population.Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic...
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一个小玩具,在TS中用HKT实现ADT | 图 1 和图 2 是两个示例,图三是实现。我也放到 TypeScript playground 上了,可以玩一下:链接用到的库是我自己搓的轮子:- 仓库:链接- 介绍:hkt-core:类型安全的 type-... 发布于 2025-02-09 20:09・IP 属地江苏 ...
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It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF,MAP2K1,MAP2K2, andKRAS) have been associated to CFCS...
Moreover, increase in phosphorylated ERK1/2 and CREB levels and melanogenesis-specific molecules is induced by mutated SASH1 alleles. Together, our results suggest that a novel SASH1/MAP2K2 crosstalk connects ERK1/2/CREB cascade with p53-POMC-MC1R cascade to cause hyperpigmentation phenotype of ...
Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis16p13.11 microduplication19p13.3 microdeletion...